"uuid"	"gene_curie"	"gene_symbol"	"disease_curie"	"disease_title"	"disease_original_curie"	"disease_original_title"	"classification_curie"	"classification_title"	"moi_curie"	"moi_title"	"submitter_curie"	"submitter_title"	"submitted_as_hgnc_id"	"submitted_as_hgnc_symbol"	"submitted_as_disease_id"	"submitted_as_disease_name"	"submitted_as_moi_id"	"submitted_as_moi_name"	"submitted_as_submitter_id"	"submitted_as_submitter_name"	"submitted_as_classification_id"	"submitted_as_classification_name"	"submitted_as_date"	"submitted_as_public_report_url"	"submitted_as_notes"	"submitted_as_pmids"	"submitted_as_assertion_criteria_url"	"submitted_as_submission_id"	"submitted_run_date"
"GENCC_000101-HGNC_10896-OMIM_182212-HP_0000006-GENCC_100001"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"OMIM:182212"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10896"	"SKI"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 13:31:56"	""	""	""	"PMID: 28106320"	"1034"	"2020-12-24"
"GENCC_000101-HGNC_16636-OMIM_171300-HP_0000006-GENCC_100003"	"HGNC:16636"	"KIF1B"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"OMIM:171300"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16636"	"KIF1B"	"OMIM:171300"	"Pheochromocytoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-04 13:30:43"	""	""	""	"PMID: 28106320"	"69237"	"2020-12-24"
"GENCC_000101-HGNC_16636-OMIM_118210-HP_0000006-GENCC_100004"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"OMIM:118210"	"OMIM:118210"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16636"	"KIF1B"	"OMIM:118210"	"Charcot-Marie-Tooth disease, type 2A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61327"	"2023-08-19"
"GENCC_000101-HGNC_17939-OMIM_617532-HP_0000007-GENCC_100004"	"HGNC:17939"	"SLC45A1"	"MONDO:0044322"	"intellectual developmental disorder with neuropsychiatric features"	"OMIM:617532"	"OMIM:617532"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17939"	"SLC45A1"	"OMIM:617532"	"Intellectual developmental disorder with neuropsychiatric features"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-26 13:32:00"	""	""	""	"PMID: 28106320"	"72178"	"2020-12-24"
"GENCC_000101-HGNC_11071-OMIM_616291-HP_0000007-GENCC_100004"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"OMIM:616291"	"OMIM:616291"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11071"	"SLC9A1"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:02"	""	""	""	"PMID: 28106320"	"1705"	"2020-12-24"
"GENCC_000101-HGNC_406-OMIM_239510-HP_0000007-GENCC_100004"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"OMIM:239510"	"OMIM:239510"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:406"	"ALDH4A1"	"OMIM:239510"	"Hyperprolinemia, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-19 13:29:20"	""	""	""	"PMID: 28106320"	"5173"	"2020-12-24"
"GENCC_000101-HGNC_18806-OMIM_614756-HP_0000006-GENCC_100001"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"OMIM:614756"	"OMIM:614756"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18806"	"CAMTA1"	"OMIM:614756"	"Cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61555"	"2023-08-19"
"GENCC_000101-HGNC_16369-OMIM_606324-HP_0000007-GENCC_100003"	"HGNC:16369"	"PARK7"	"MONDO:0011658"	"autosomal recessive early-onset Parkinson disease 7"	"OMIM:606324"	"OMIM:606324"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16369"	"PARK7"	"OMIM:606324"	"Parkinson disease 7, autosomal recessive early-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:17"	""	""	""	"PMID: 28106320"	"88987"	"2020-12-24"
"GENCC_000101-HGNC_4286-OMIM_617524-HP_0000007-GENCC_100004"	"HGNC:4286"	"GJB4"	"MONDO:0033012"	"erythrokeratodermia variabilis et progressiva 2"	"OMIM:617524"	"OMIM:617524"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4286"	"GJB4"	"OMIM:617524"	"Erythrokeratodermia variabilis et progressiva 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-15 13:30:22"	""	""	""	"PMID: 28106320"	"864790"	"2020-12-24"
"GENCC_000101-HGNC_10866-OMIM_615006-HP_0000007-GENCC_100004"	"HGNC:10866"	"ST3GAL3"	"MONDO:0014003"	"developmental and epileptic encephalopathy, 15"	"OMIM:615006"	"OMIM:615006"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10866"	"ST3GAL3"	"OMIM:615006"	"Developmental and epileptic encephalopathy 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-28 13:32:07"	""	""	""	"PMID: 28106320"	"1054"	"2020-12-24"
"GENCC_000101-HGNC_30563-OMIM_618437-HP_0000007-GENCC_100003"	"HGNC:30563"	"PARS2"	"MONDO:0032752"	"developmental and epileptic encephalopathy, 75"	"OMIM:618437"	"OMIM:618437"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30563"	"PARS2"	"OMIM:618437"	"Epileptic encephalopathy, early infantile, 75"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-18 13:31:17"	""	""	""	"PMID: 28106320"	"67349"	"2020-12-24"
"GENCC_000101-HGNC_15469-OMIM_615528-HP_0000007-GENCC_100003"	"HGNC:15469"	"DNAJC6"	"MONDO:0014231"	"juvenile onset Parkinson disease 19A"	"OMIM:615528"	"OMIM:615528"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15469"	"DNAJC6"	"OMIM:615528"	"Parkinson disease 19a, juvenile-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:58"	""	""	""	"PMID: 28106320"	"3563"	"2020-12-24"
"GENCC_000104-HGNC_23336-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"24939586, 25862627, 27942422"	""	"000104.pa48.v1.73.hgnc23336.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_613707-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013380"	"LEOPARD syndrome 3"	"OMIM:613707"	"OMIM:613707"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:613707"	"LEOPARD syndrome 3 613707"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"OMIM:115150"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"Cardiofaciocutaneous syndrome 115150"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"OMIM:613706"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7 613706"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p3"	"2020-10-08"
"GENCC_000104-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100002"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"OMIM:613563"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1541"	"CBL"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"20619386, 20543203, 19571318"	""	"000104.pa48.v1.73.hgnc1541.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100002"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"OMIM:218040"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"16170316, 16969868, 16443854, 21396583"	""	"000104.pa48.v1.73.hgnc5173.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"OMIM:609942"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3 609942"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583"	""	"000104.pa48.v1.73.hgnc6407.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"OMIM:615278"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2 615278"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583"	""	"000104.pa48.v1.73.hgnc6407.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"OMIM:616564"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10 616564"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_615670-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014299"	"schwannomatosis 2"	"OMIM:615670"	"OMIM:615670"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:615670"	"Schwannomatosis-2, susceptibility to 615670"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_605275-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0011531"	"Noonan syndrome 2"	"OMIM:605275"	"OMIM:605275"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:605275"	"Noonan syndrome 2, 605275"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m2.p3"	"2020-10-08"
"GENCC_000104-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100002"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"OMIM:615279"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23321623"	""	"000104.pa48.v1.73.hgnc6840.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6840-MONDO_0007893-HP_0000006-GENCC_100002"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23321623"	""	"000104.pa48.v1.73.hgnc6840.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100002"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"OMIM:615280"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4 615280"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23379592"	""	"000104.pa48.v1.73.hgnc6842.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100002"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"OMIM:618499"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome 11, 618499"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"28289718, 31173466, 31108500, 31173466 "	""	"000104.pa48.v1.73.hgnc7227.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7765-OMIM_601321-HP_0000006-GENCC_100002"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"OMIM:601321"	"OMIM:601321"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7765"	"NF1"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome 601321"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"16380919, 19845691, 12707950"	""	"000104.pa48.v1.73.hgnc7765.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100002"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"OMIM:162200"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7765"	"NF1"	"OMIM:162200"	"NEUROFIBROMATOSIS, TYPE 1 162200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:31"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7765.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7989-OMIM_613224-HP_0000006-GENCC_100002"	"HGNC:7989"	"NRAS"	"MONDO:0013186"	"Noonan syndrome 6"	"OMIM:613224"	"OMIM:613224"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7989"	"NRAS"	"OMIM:613224"	"Noonan syndrome 6 613224"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19966803, 19775298"	""	"000104.pa48.v1.73.hgnc7989.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7989-MONDO_0015280-HP_0000006-GENCC_100002"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"Cardio-Facio-cutanenous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19966803, 19775298"	""	"000104.pa48.v1.73.hgnc7989.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_9282-OMIM_617506-HP_0000006-GENCC_100002"	"HGNC:9282"	"PPP1CB"	"MONDO:0054588"	"Noonan syndrome-like disorder with loose anagen hair 2"	"OMIM:617506"	"OMIM:617506"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9282"	"PPP1CB"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2, 617506"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"27264673, 28211982, 27681385"	""	"000104.pa48.v1.73.hgnc9282.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9644-OMIM_151100-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0100082"	"LEOPARD syndrome 1"	"OMIM:151100"	"OMIM:151100"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9644"	"PTPN11"	"OMIM:151100"	"LEOPARD syndrome 1 151100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287"	""	"000104.pa48.v1.73.hgnc9644.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"OMIM:163950"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1 163950"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287"	""	"000104.pa48.v1.73.hgnc9644.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_9829-OMIM_611554-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012691"	"LEOPARD syndrome 2"	"OMIM:611554"	"OMIM:611554"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9829"	"RAF1"	"OMIM:611554"	"LEOPARD syndrome 2 611554"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 17603482"	""	"000104.pa48.v1.73.hgnc9829.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"OMIM:611553"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5 611553"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 17603482"	""	"000104.pa48.v1.73.hgnc9829.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100002"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"OMIM:615355"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"Noonan syndrome 8 615355"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"23791108, 25124994, 24939608"	""	"000104.pa48.v1.73.hgnc10023.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_10447-MONDO_0018997-HP_0000006-GENCC_100003"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"24705357"	""	"000104.pa48.v1.73.hgnc10447.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100002"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"OMIM:618624"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"Noonan syndrome 12, 618624"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"31130282, 31130285"	""	"000104.pa48.v1.73.hgnc17271.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_15454-OMIM_607721-HP_0000006-GENCC_100002"	"HGNC:15454"	"SHOC2"	"MONDO:0054637"	"Noonan syndrome-like disorder with loose anagen hair 1"	"OMIM:607721"	"OMIM:607721"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15454"	"SHOC2"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1, 607721"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19684605, 22528146, 23918763"	""	"000104.pa48.v1.73.hgnc15454.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_11187-OMIM_610733-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0012547"	"Noonan syndrome 4"	"OMIM:610733"	"OMIM:610733"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11187"	"SOS1"	"OMIM:610733"	"Noonan syndrome 4 610733"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19438935, 17143285, 17143282, 17586837"	""	"000104.pa48.v1.73.hgnc11187.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100002"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"OMIM:616559"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9 616559"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 26173643"	""	"000104.pa48.v1.73.hgnc11188.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100002"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"OMIM:611431"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome 611431"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17704776, 19366998, 19443465, 21649642, 21548021"	""	"000104.pa48.v1.73.hgnc20249.m1.p1"	"2020-10-08"
"GENCC_000105-HGNC_31042-MONDO_0024520-HP_0000006-GENCC_100001"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-30 00:00:00"	""	"The GREB1L gene is located on chromosome 18 at q11.1-11.2 and encodes the GREB1 like retinoic acid receptor coactivator protein, which is involved with retinoic acid signaling and is essential for early metanephros and genital development. GREB1L was first reported in relation to autosomal dominant renal agenesis and hypodysplasia (RHD) in 2017 (28739660; Brophy et al. 2017).  At least seven unique variants including missense and loss-of-function variants have been reported in the literature. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least nine probands from three publications (28739660; Brophy et al. 2017; 29100091; Tomasi et al. 2017; 29100090; Sanna-Cherchi et al. 2017). Although segregation was observed in six families, incomplete penetrance was also noted. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by animal models and expression studies (Tomasi et al. 2017). In summary, GREB1L is definitively associated with autosomal dominant renal agenesis and hypodysplasia (RHD)."	"28739660, 29100090, 29100091, 31424080"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100001"	"2020-10-15"
"GENCC_000105-HGNC_11916-MONDO_0007727-HP_0000006-GENCC_100001"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"familial periodic fever"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-01 00:00:00"	""	"The TNFRSF1A gene is located on chromosome 12 at 12p13.31 and encodes the TNF receptor superfamily member 1A protein, which is one of two membrane receptors bound by the proinflammatory cytokine TNF. TNFRSF1A was first reported in relation to familial periodic fever in 1999 (10199409: McDermott et al. 1999). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least 19 unique missense variants have been reported in 20 cases from eight publications (10199409: McDermott et al. 1999; 10902757: Dode et al. 2000; 13130484: Aganna et al. 2003; 16508982: D'Osualdo et al. 2006; 22566169: Jesus et al. 2012; 23322460: Havla et al. 2013; 22343913: Lee et al. 2013; 25888769: Greco et al. 2015). More evidence is available in the literature, but the maximum score for probands with other variant type with some evidence of gene impact (7 pts) has been reached. This gene-disease relationship is supported by the biochemical function of TNFR1 signaling via two opposing pathways that lead to either apoptosis via caspase activation or to cellular survival and inflammation via the activation of NF-κB, functional alteration in patient and non-patient cells demonstrating reduced soluble TNFR1 impaired binding and intracellular signaling downstream of TNFR1, resulting in enhanced production of cytokines and chemokines (17666110: Kimberley et al. 2007; 16684962: Lobito et al. 2006; 20457915: Simon et al. 2010).  In two different knock-in mouse lines with TRAPS-associated variants in TNFRSF1A, TNFR1 accumulated intracellularly and there was enhanced activation of proinflammatory signaling. Heterozygous mice were hypersensitive to lipopolysaccharide (LPS), an endotoxin, which was also observed in TRAPS patient cells (20457915: Simon et al. 2010). In summary, TNFRSF1A is definitively associated with familial periodic fever. This has been repeatedly demonstrated in both research and clinical diagnostic settings, and has been upheld over time."	"10199409, 10902757, 13130484, 16508982, 22566169, 23322460, 22343913, 25888769, 17666110, 20457915, 16684962"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100002"	"2020-10-15"
"GENCC_000105-HGNC_1463-MONDO_0032795-HP_0000006-GENCC_100004"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"MONDO:0032795"	"intellectual developmental disorder 59"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"CAMK2G-related syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-28 00:00:00"	""	""	"23033978, 30184290"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100003"	"2020-10-15"
"GENCC_000105-HGNC_15456-MONDO_0032721-HP_0000007-GENCC_100003"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-09-25 00:00:00"	""	"The MBTPS1 gene is located on chromosome 16 at 16q23.3-q24.1 and encodes membrane bound transcription factor peptidase, site 1. The site-1 protease, which is also referred to as S1P, is ubiquitously expressed in the Golgi and functions in cholesterol homeostasis, collagen trafficking, SREBP activation, lysosome biogenesis, and lysosomal enzyme trafficking. MBTPS1 was first reported in relation to autosomal recessive spondyloepiphyseal dysplasia, kondo-fu type in 2018 (30046013: Kondo et al. 2018). To date, two unique variants, a missense and a stop-gained, have been reported in two probands from two publications (30046013: Kondo et al. 2018; 32857899: Meyer et al. 2020). Clinical features reported in common in these individuals included poor growth, inguinal hernia, protruding ears, kyphosis, skeletal abnormalities involving the chest, and elevated plasma levels of lysosomal enzymes. Additional features observed in at least one of the cases included spondyloepiphyseal dysplasia, scoliosis, skeletal abnormalities involving the feet, motor delay, reduced bone density, failure to thrive with gastronomy tube, cataract, relative macrocephaly, triangular face, and prominent forehead and cheekbones.Evidence supporting this gene-disease relationship includes case-level data and experimental data. Loss of function (LOF) has been implicated as the mechanism of disease. This gene-disease relationship is also supported by strong expression in chondrocytes and skeletal tissue; the gene's functions in cholesterol homeostasis, collagen trafficking, SREBP activation, lysosome biogenesis, and lysosomal enzyme trafficking which are shared with other genes associated with overlapping phenotypes (e.g., MBTPS2, SREBP1, GNPTAB); a compound heterozygous zebrafish LOF mutant that shows skeletal, cartilage, collagen, and lipid abnormalities; morpholino-mediated knockdown in zebrafish that recapitulates the skeletal, chondrocyte, and cartilage abnormalities observed in the mutant; mice with chondrocyte-specific KO show skeletal abnormalities, chondrodysplasia, and signs of collagen abnormalities and ER stress; and patient fibroblasts and chondrocytes from patient iPSC-derived teratomas show defects in collagen trafficking and the unfolded protein response pathway in addition to increases in ER stress, lysosomes, and apoptosis (Schlombs et al. 2003; Patra et al. 2007; Kondo et al. 2018). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. Of note, heterozygous gain of function in this gene has also been implicated in a distinct phenotype in a single case (31070020: Schweitzer et al. 2019); this relationship will be assessed separately. "	"30046013, 32420688, 18025304, 14612568"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100004"	"2020-10-15"
"GENCC_000105-HGNC_7785-MONDO_0032658-HP_0000006-GENCC_100002"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"acquired macrocephaly with impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-25 00:00:00"	""	"The NFIB gene is located on chromosome 9 at 9p23-p22.3 and encodes nuclear factor 1 B, a transcription factor that regulates adenovirus DNA replication and transcription throughout mammalian development. It has been specifically implicated in brain and lung development. NFIB was first reported in association with autosomal dominant acquired macrocephaly with impaired intellectual development in 2018 (30388402: Schanze et al. 2018). In addition to the primary features of intellectual disability and macrocephaly, additional features include motor and speech delay, behavioral abnormalities, corpus callosum abnormalities, seizures, hypotonia, genital anomalies, and other brain malformations. Variants in this gene have been reported in at least eight indviduals from two publications, including four predicted null and four missense variants (30388402: Schanze et al. 2018; 30315573: Kahrizi et al. 2019). Six of the variants occurred de novo, while one was identified in an affected parent-child pair. The maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. This gene-disease relationship is also supported by high expression in developing the brain, particularly in the cortical plate; a shared function as a transcriptional regulator that is shared with members of the same protein family that result in similar, overlapping phenotypes (e.g., NFIX, NFIA); and partial recapitulation of the human phenotype, including macrocephaly and callosal and other brain defects, in conventional and telencephalon-specific knockout mice (15632069: Steele-Perkins et al. 2005; 26021864: Bunt et al. 2015; 30388402: Schanze et al. 2018). In addition, in vitro analyses of patient-identified missense variants demonstrated disrupted transcriptional regulation in a luciferase assay (Schanze et al. 2018). In summary, there is strong evidence to support the relationship between NFIB and acquired macrocephaly with impaired intellectual development, autosomal dominant. Additional reports in humans published three years since the first proposal of the association are needed to reach a definitive classification."	"26021864, 15632069, 30388402, 30315573"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100005"	"2020-10-15"
"GENCC_000105-HGNC_5044-MONDO_0014700-HP_0000006-GENCC_100002"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"MONDO:0014700"	"Au-Kline syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-25 00:00:00"	""	"The HNRNPK gene is located on chromosome 9 at 9q21.32 and encodes the heterogeneous nuclear ribonucleoprotein K protein, which is one of the major pre-mRNA-binding proteins. HNRNPK was first reported in association with Au Kline syndrome in 2015 (26173930: Au et al. 2015).  Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight de novo heterozygous variants have been reported in the literature, including fives loss-of-function variants, two missense variants, and one intron variant predicted to result in an inframe insertion, in six publications (26173930: Au et al. 2015; 26954065: Lange et al. 2016; 28771707: Miyake et al. 2017; 28374925: Dentici et al. 2017; 29904177: Au et al. 2018; 32588992: Yamada et al. 2020). The mechanism for disease is loss-of-function. The hnRNP K protein was shown to be expressed in rat hippocampal neuron and colocalized with VGLUT1 (a presynaptic protein) and PSD-95 (a postsynaptic scaffolding protein), and in mouse leukemic monocyte macrophage RAW264.7 cells, a significant increase in GSK3β-hnRNPK interaction was observed (24990929: Folci et al. 2014; 26638989: Fan et al. 2015). In summary, there is strong evidence to support the relationship between HNRNPK and Au Kline syndrome (autosomal dominant)."	"26173930, 26954065, 28771707, 28374925, 29904177, 32588992, 26638989, 24990929"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100006"	"2020-10-15"
"GENCC_000105-HGNC_16466-MONDO_0007187-HP_0000006-GENCC_100001"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-08 00:00:00"	""	"The SUFU gene is located on chromosome 10 at 10q24.32 and encodes the suppressor of fused homolog protein, which is a negative regulator for the hedgehog/smoothened signaling pathway. The SUFU gene was first reported in relation to Gorlin syndrome (known as nevoid basal cell carcinoma syndrome) and atypical Gorlin syndrome, in 2009 (19533801; Pastorino et al. 2009). Evidence supporting this gene-disease relationship includes case-level data and experimental data. From a selection of literature, at least seven variants have been reported in a heterozygous state in eight affected individuals in six publications (19533801: Pastorino et al. 2009; 22829011: Kijima et al. 2012; 25403219: Smith et al. 2014; 29892665: Ogden et al. 2018; 29356994: Huq et al. 2018; 31485359: Askaner et al. 2019). The mechanism for disease is loss of function. Experimental evidence demonstrates that a splice donor variant was unable to interact with GLI transcription factors, resulting in activation of SHH pathway target genes (12068298: Taylor et al. 2002; 16459298: Svard et al. 2006). In a mouse model, in which mice were heterozygous for functional Sufu, a skin phenotype similar to Gorlin syndrome was observed (16459298: Svard et al. 2006). In summary, SUFU is definitively associated with autosomal dominant nevoid basal cell carcinoma syndrome."	"19533801, 22829011, 25403219, 29892665, 29356994, 31485359, 12068298, 16459298"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100007"	"2020-10-15"
"GENCC_000105-HGNC_16050-MONDO_0030030-HP_0000006-GENCC_100003"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-16 00:00:00"	""	"MED12L was first reported in relation to autosomal dominant Nizon-Isidor syndrome in 2019 (31155615: Nizon et al. 2019). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least four probands in one publication (31155615: Nizon et al. 2019). The four variants were all predicted loss of function and included a frameshift, a stop gained and two splice variants and at least two occurred de novo. This gene-disease relationship is supported by expression data and protein interaction data; MED12L is a component of the kinase module of the Mediator complex, other subunits of the kinase module have also been implicated in intellectual disability, including MED12, MED13L, MED13 and CDK19 (28778422: Jeronimo et al. 2017). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"31155615, 28778422"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100008"	"2020-10-15"
"GENCC_000105-HGNC_18169-MONDO_0012592-HP_0000007-GENCC_100001"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-17 00:00:00"	""	"The FKBP10 gene is located on chromosome 17 at 17q21.2 and encodes the FKBP prolyl isomerase 10 protein, which is a member of the immunophilins group of proteins. FKBP prolyl isomerase 10 protein has peptidyl prolyl cis-trans isomerase activity (PPIase) that accelerates protein folding, and it may also enable collagen folding by acting as a collagen chaperon. FKBP10 was first reported in relation to autosomal recessive osteogenesis imperfecta with or without joint contractures in 2010 (20362275: Alanay et al. (2010). At least six unique loss-of-function variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from four publications (20362275: Alanay et al. 2010; 21567934: Shaheen et al. 2011; 20839288: Kelley et al. 2011; 27762305: Xu et al. 2017). Segregation was noted in four families but with insufficient evidence to score. More genetic evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by expression studies and animal models. In summary, FKBP10 is definitively associated with autosomal recessive osteogenesis imperfecta with or without joint contractures.
Lumping and Splitting: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism(s) underlying the disease entities (Marini et al. 2014): Bruck syndrome 1 (MIM:259450) and Osteogenesis imperfecta, type XI (MIM:610968).
"	"20362275, 21567934 , 20839288, 27762305, 24777781"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100009"	"2020-10-15"
"GENCC_000105-HGNC_10597-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-15 00:00:00"	""	""	"7720699, 7479931, 19763161"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100010"	"2020-10-15"
"GENCC_000105-HGNC_18801-MONDO_0014606-HP_0000006-GENCC_100001"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"POGZ-related neurodevelopmental disorders"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-14 00:00:00"	""	"The POGZ gene is located on chromsome 1 at 1q21.3 and encodes the pogo transposable element derived with ZNF domain protein. The complete function of this protein have not yet been characterized, but it is known to play a role in mitosis, including kinetochore assembly and cohesion of sister chromatids. It has also been proposed to function in chromatin remodelling. POGZ was first reported in relation to autosomal dominant neurodevelopmental disorders in 2012 (22495311: Neale et al. 2012). At least 50 unique variants, including frameshift, stop-gained, splice, and missense variants, have been reported in humans (26942287: Stessman et al. 2016). POGZ-related neurodevelopmental disorders include autism spectrum disorder, intellectual disability, and White-Sutton syndrome, which includes additional features of obesity tendency, hypotonia, microcephaly, feeding problems, visual impairment, and characteristic facial features.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included seven cases from three publications (25533962: Deciphering Developmental Disorders Study 2015; 26739615: White et al. 2016; 26942287: Stessman et al. 2016). In many cases, variants were confirmed to have occurred de novo. Predicted null or truncating variants are most common, but a smaller number of missense variants have also been reported. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease in haploinsufficiency. This gene-disease relationship is supported by the gene's expression in the brain, where it localizes to neuronal nuclei and chromosomes; disrupted DNA binding activity by a missense variant in vitro; and impaired non-associative learning in a Drosophila knockdown model (27103995: Matsumura et al. 2016; 26942287: Stessman et al. 2016). In summary, POGZ is definitively associated with autosomal dominant POGZ-related neurodevelopmental disorders. This relationship has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. "	"25533962, 26739615, 26942287, 20562864, 27103995"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100011"	"2020-10-15"
"GENCC_000105-HGNC_3363-MONDO_0014303-HP_0000007-GENCC_100004"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"spastic paraplegia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-14 00:00:00"	""	""	"24482476, 19922813"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100012"	"2020-10-15"
"GENCC_000105-HGNC_3373-MONDO_0019188-HP_0000006-GENCC_100001"	"HGNC:3373"	"EP300"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3373"	"EP300"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-11-07 00:00:00"	""	""	"19353645, 27648933, 15706485, 9590171, 18853439, 19822209"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100013"	"2020-10-15"
"GENCC_000105-HGNC_9801-MONDO_0030913-HP_0000006-GENCC_100002"	"HGNC:9801"	"RAC1"	"MONDO:0030913"	"intellectual disability, autosomal dominant 48"	"MONDO:0030913"	"intellectual disability, autosomal dominant 48"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9801"	"RAC1"	"MONDO:0030913"	"RAC1-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong "	"2020-09-10 00:00:00"	""	"The RAC1 gene is located on chromosome 7 at 7p22.1 and encodes the Rac family small GTPase 1 protein, a plasma membrane bound GTPase which is a modulator of the cytoskeleton, involved in the growth and differentiation of many cell types. The RAC1 gene was first reported in relation to autosomal dominant RAC1-related intellectual disability in 2017 (28886345; Reijnders et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Seven missense variants, which occurred de novo, in seven affected individuals were reported by Reijnders et al. 2017. This gene-disease association is supported by experimental data; RAC1 interacts with and is activated by the guanine exchange factor TRIO, variants in TRIO, located within its GEF domain are also associated with an intellectual disability syndrome (28928363: Sadybekov et al. 2017). Similarly, to some pathogenic TRIO variants, the RAC1 Cys18Tyr variant, associated with a severe clinical phenotype, has an inhibitory effect on AMPAR-mediated synaptic transmission and consequently suppresses LTP induction in a rat organotypic hippocampal slice culture model (30042656: Tian et al. 2018). Data from animal models also support the gene disease association; zebrafish overexpressing pathogenic RAC1 variants showed altered neuronal proliferation and head size compared to wildtype and conditional forebrain-specific Rac1-knockout mice (homozygous) recapitulate some key features of the disease including impaired neuronal migration, reduced neuronal proliferation and microcephaly (28886345; Reijnders et al. 2017); 19007770; Chen et al. 2009). In summary, there is strong evidence to support the relationship between RAC1 and RAC1 related intellectual disability (autosomal dominant). Additional clinical reports are needed to reach a definitive classification. "	"28886345, 28928363, 19007770, 30042656"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100015"	"2020-10-15"
"GENCC_000105-HGNC_7882-MONDO_0007318-HP_0000006-GENCC_100003"	"HGNC:7882"	"NOTCH2"	"MONDO:0007318"	"Alagille syndrome"	"MONDO:0007318"	"Alagille syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7882"	"NOTCH2"	"MONDO:0007318"	"Alagille syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	" Moderate"	"2019-05-19 00:00:00"	""	"The NOTCH2 gene is located on chromosome 1 at 1p12 and encodes the notch receptor 2 protein, a single transmembrane domain protein integral to the conserved notch signalling pathway. Notch signalling occurs via cell to cell communication and is involved in determining the cellular fate of diverse cell types, which in turn regulates the homeostatsis of many tissue types. NOTCH2 was first reported in relation to autosomal dominant Alagille syndrome in 2006 (16773578; McDaniell et al. 2006). At least eight unique variants, including seven missense variants and one stop gained variant have been reported. Evidence supporting this gene-disease relationship includes case-level data, and experimental data. Variants in this gene have been reported in at least eight probands in three publications (16773578: McDaniell et al. 2006; 22209762: Kamath et al. 2012; 22488849; Lin et al. 2012). Variants in two cases occurred de novo. Mechanism of disease unclear, where variant level functional data is available, missense variants disrupted the Notch signalling pathway (NSP). This gene-disease relationship is supported by functional and animal model experimental data. The NOTCH1 ligand, JAG1 is associated with autosomal dominant Alagille syndrome (28794168: Siebel et al. 2017). NOTCH 2 is expressed in tissues consistent with the disease phenotype and is localised to cells adjacent to those expressing JAG1 (11171333: McCright et al. 2001) . Mice expressing a hypomorphic Notch2 allele recapitulate some features of Alagille syndrome, as do mice which a heterozygous for both the Notch2 hypomorphic allele and a JAG1 null allele (11171333: McCright et al. 2001; 11861489: McCright et al. 2002). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"16773578, 22209762, 22488849, 11861489, 28794168, 11171333"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100016"	"2020-10-15"
"GENCC_000105-HGNC_30782-MONDO_0030916-HP_0000006-GENCC_100002"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"NAA15-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-03 00:00:00"	""	""	"28191889, 29656860, 12888564"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100017"	"2020-10-15"
"GENCC_000105-HGNC_11976-MONDO_0011670-HP_0000007-GENCC_100001"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin X deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-29 00:00:00"	""	"TNXB was first reported in relation to autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency in 1997 (9288108: Burch et al. 1997). At least 10 unique variants, both missense and loss of function, have been reported in humans. Evidence ​supporting​​ this gene-disease relationship includes case-level data and experimental data​​. Variants in this gene have been reported in at least seven probands in three publications (26799614: Mackenroth et al. 2015; 27297501: Chen et al. 2016; Demirdas et al. 2017). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by ​an animal model (11925569: Mao et al. 2002) and rescue experiments (30605228: Aktar et al. 2019). In summary, the TNXB gene​​ is definitively associated with ​autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency."	"27582382, 27297501, 26799614, 11925569, 30605228"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100018"	"2020-10-15"
"GENCC_000105-HGNC_13030-MONDO_0012869-HP_0000006-GENCC_100001"	"HGNC:13030"	"ZBTB18"	"MONDO:0012869"	"intellectual disability, autosomal dominant 22"	"MONDO:0012869"	"intellectual disability, autosomal dominant 22"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13030"	"ZBTB18"	"MONDO:0012869"	"ZBTB18-related intellectual disablity, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-31 00:00:00"	""	""	"24193349, 27598823, 23020937, 26740508, 25613900, 22095278"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100019"	"2020-10-15"
"GENCC_000105-HGNC_5331-MONDO_0008523-HP_0000006-GENCC_100001"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"MONDO:0008523"	"Blau syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-21 00:00:00"	""	"The NOD2 gene is located on chromosome 16 at 16q12.1 and encodes the nucleotide-binding oligomerization domain-containing protein 2, a member of the NOD-like receptor family. NOD2 is a cytoplasmic pattern recognition receptor and plays an important role in regulating the innate immune response. The NOD2 gene was first reported in relation to autosomal dominant Blau syndrome in 2001 (11528384: Miceli-Richard et al. 2001). At least 20 unique missense variants have been reported in clinical cases, with up to 80% of Blau syndrome associated with two recurrent NOD2 variants; p.Arg334Trp and p.Arg334Gln (25182201: Caso et al. 2014). Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. Variants in this gene have been reported in at least nineteen probands in twelve publications (11528384; 15459013; 19116920; 19479837; 28721627; 28721627; 12428248; 17916199; 20084402; 31543536; 31803699; 17207093). Wang et al. (12428248: Wang et al. 2002) performed linkage analysis on ten families with Blau syndrome and reported a combined LOD score of 5.67. De novo variants have also been reported. The mechanism of disease is unknown, in vitro experiments suggest variants lead to a gain of function and ligand independent activation of NOD2 (25093298), however patient cell and mouse model data suggest a downregulation of NOD2 signalling pathways. This gene-disease relationship is supported by data from patient cells which point to a disruption of NOD2 signalling pathways (21296813; 20052476; 20052476; 20052476; 28587749). Mouse models also showed partial recapitulation of aspects of disease (25429073; 21296813). In summary, NOD2 is definitively associated with autosomal dominant Blau syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"31543536, 31803699, 11528384, 15459013, 19116920, 19479837, 28721627, 28587749, 25429073, 21296813"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100020"	"2020-10-15"
"GENCC_000105-HGNC_18188-MONDO_0008952-HP_0000007-GENCC_100001"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"TMCO1-related cerebrofaciothoracic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-18 00:00:00"	""	""	"30556256, 23320496, 24194475, 24424126, 29682451, 30962442, 27212239"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100021"	"2020-10-15"
"GENCC_000105-HGNC_8127-MONDO_0030907-HP_0001417-GENCC_100003"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"OGT-related X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-08-20 00:00:00"	""	""	"28584052, 31296563, 31627256, 28302723, 29769320"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100022"	"2020-10-15"
"GENCC_000105-HGNC_2514-MONDO_0014035-HP_0000006-GENCC_100002"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-08-03 00:00:00"	""	"CTNNB1 was first reported in relation to autosomal dominant CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrom in 2012 (23033978: de Ligt et al. 2012). At least six unique loss of function variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene have been reported in at least six probands from three publications (23033978: de Ligt et al. 2012; 25326669: Kuechler et al. 2015; 27915094: Kharbanda et al. 2017). Only de novo variants have been reported in literature. More evidence is available in the literature, but the maximum score for genetic evidence has been reached (12 pts.). The mechanism for disease is haploinsufficiency. This gene-disease association is supported by an animal model and in vitro functional assays (24614104: Tucci et al. 2014). In summary,  there is strong evidence to support the relationship between CTNNB1 and CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrome (autosomal dominant). Additional experimental evidence is required to reach a definitive classification."	"23033978, 25326669, 27915094, 24614104"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100023"	"2020-10-15"
"GENCC_000105-HGNC_26270-MONDO_0014941-HP_0000007-GENCC_100001"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"distal arthrogryposis with impaired proprioception and touch"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-07-28 00:00:00"	""	"The PIEZO2 gene is located on chromosome 18 at p11.22-p11.21 and encodes the piezo type mechanosensitive ion channel component 2 protein, a rapidly adapting mechanically-activated cation channel that is required for touch sensation and proprioception (25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). PIEZO2 was first reported in association with autosomal recessive distal arthrogryposis with impaired proprioception and touch in 2016 (27653382: Chesler et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included eight unique variants reported in seven cases from four publications (27653382: Chesler et al. 2016; 27843126: Delle Vedove et al. 2016; 27607563: Mahmud et al. 2017; 30941898: Yamaguchi et al. 2019). One variant was a missense with experimental evidence of a loss-of-function effect; the remainder were predicted null variants. No segregation evidence was scored, but variants in this gene co-segregated with disease in additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. Biallelic loss of function is implicated as the mechanism of disease. This gene-disease relationship is supported by tissue-specific expression in mechanoreceptors that sense mechanical stimuli relevant to touch sensation and in all types of proprioceptive peripheral endings (20813920: Coste et al. 2010; 25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). Conditional knockout of PIEZO2 in sensory neurons and epidermal Merkel cells causes impaired touch sensation, and conditional knockout in proprioceptors resulted in impaired proprioception and difficulty walking (25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). In summary, PIEZO2 is definitively associated with autosomal recessive distal arthrogryposis with impaired proprioception and touch. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"27653382, 27843126, 27607563, 30941898, 25471886, 26551544"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100024"	"2020-10-15"
"GENCC_000105-HGNC_1392-MONDO_0032657-HP_0000006-GENCC_100002"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"CACNA1E-related developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-30 00:00:00"	""	"The CACNA1E gene is located on chromosome 1 at 1q25.3 and encodes calcium voltage-gated channel subunit alpha1 E. This subunit is part of the CaV2.3 calcium channel. CaV2.3 channels are widely expressed throughout the central nervous system and conduct voltage-activated, rapidly inactivating R-type calcium currents, which are used to initiate rapid synaptic transmission. CACNA1E was first reported in relation to autosomal dominant developmental and epileptic encephalopathy in 2018 (30343943: Helbig et al. 2018). At least 14 unique missense variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene have been reported in at least 30 probands in a single multi-institutional publication (30343943: Helbig et al. 2018). In the majority of cases, variants were demonstrated to have occurred de novo. The reported missense variants are also highly clustered in the cytoplasmic ends of all four S6 transmembrane segments, which line the inner pore of the channel and form the activation gate. The mechanism of disease is gain of function; a small number of cases with predicted null variants of uncertain significance have also been reported (30343943: Helbig et al. 2018). This gene-disease relationship is supported by enriched expression in the brain, a shared biochemical function with another gene, CACNA1A, that is associated with a similar early onset epileptic encephalopathy, and in vitro analyses in a human cell line demonstrating and gain of function effect for four missense variants. In summary, there is strong evidence to support the relationship between CACNA1E and autosomal dominant developmental and epileptic encephalopathy. Additional evidence published three years from the first proposal of the association is needed to reach a definitive classification. "	"30343943, 21139605"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100025"	"2020-10-15"
"GENCC_000105-HGNC_17327-MONDO_0014741-HP_0000006-GENCC_100002"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"Desanto-Shinawi syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-28 00:00:00"	""	"WAC was first reported in relation to autosomal dominant Desanto-Shinawi syndrome in 2014 (25356899: Hamdan et al. 2014). At least six de novo, loss of function unique variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from three publications (25356899; 26264232; 26757981). Germline mosaicism has been reported. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. Expression data and an animal model are available, however, there is insufficient information to score either piece of experimental evidence (26757981). In summary, there is strong genetic evidence to support the relationship between WAC and Desanto-Shinawi syndrome, autosomal dominant. Additional functional evidence is needed to reach a definitive classification."	"25356899, 26264232, 26757981"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100026"	"2020-10-15"
"GENCC_000105-HGNC_29853-MONDO_0014995-HP_0000006-GENCC_100002"	"HGNC:29853"	"HECW2"	"MONDO:0014995"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"MONDO:0014995"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29853"	"HECW2"	"MONDO:0014995"	"HECW2-related neurodevelopmental disorder "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-01-28 00:00:00"	""	"The HECW2 gene is located on chromosome 2 at 2q32.3 and encodes HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. E3 ligases function in the control of ubiquitin-mediated protein degradation. HECW2 also plays a role in the function of neural crest cells by regulating glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. HECW2 was first reported in relation to an autosomal dominant neurodevelopmental disorder in 2016 (27334371: Halvardson et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and limited experimental data. Variants in this gene have been reported in at least eight individuals in three publications (27389779: Berko et al. 2017; 29807643: Ullman et al. 2018; 27334371: Halvardson et al. 2016). At least four unique missense variants have been identified, with at least two recurrent variants noted: p.Arg1191Gln and p.Arg1330Trp. All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is also supported by limited experimental evidence. Expression is ubiquitous but high in brain (25613900: Uhlén et al. 2015); at least two other HECT domain E3 ubiquitin ligases have also been associated with disease in humans; HECW2 interacts with other protein products associated with related clinical phenotypes (24163370: Lu et al. 2013). In summary, there is strong evidence to support the relationship between HECW2 and an autosomal dominant HECW2-related neurodevelopmental disorder. Additional experimental evidence is needed to reach a definitive classification. "	"27389779, 29807643, 27334371, 24163370, 25613900"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100027"	"2020-10-15"
"GENCC_000105-HGNC_6836-MONDO_0030061-HP_0000006-GENCC_100002"	"HGNC:6836"	"MAP1B"	"MONDO:0030061"	"periventricular nodular heterotopia 9"	"MONDO:0030061"	"periventricular nodular heterotopia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6836"	"MAP1B"	"MONDO:0030061"	"periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-24 00:00:00"	""	"MAP1B was first reported in relation to autosomal dominant periventricular nodular heterotopia (PVNH) in 2018 (29738522: Heinzen et al. 2018). At least eight unique loss of function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in eight probands from three publications (29738522: Heinzen et al. 2018; 30150678: Walters et al. 2018; 31317654: Julca et al. 2019). Variants in this gene segregated with disease in three families, although clinical presentation was variable even within families. Reduced penetrance was noted. The mechanism for disease is heterozygous loss of function variants. This gene-disease relationship is supported by expression studies and an animal model (8577753: Edelmann et al. 1996). In summary, there is strong evidence to support the relationship between MAP1B and periventricular nodular heterotopia (autosomal dominant). Three years must elapse from the first proposal of the association to reach a definitive classification."	"29738522, 30150678, 8577753, 31317654"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100028"	"2020-10-15"
"GENCC_000105-HGNC_13221-MONDO_0014914-HP_0000006-GENCC_100002"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"MONDO:0014914"	"Dias-Logan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"BCL11A-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-10-17 00:00:00"	""	"The BCL11A gene is located on chromosome 2 at 2p16.1 and encodes BAF chromatin remodeling complex subunit BCL11A. BCL11A functions as a transcription factor and plays an important role in globin switching by repressing transcription of fetal hemoglobin. It is highly expressed in hemotopoietic cells as well as in the developing cerebral cortex. The BCL11A gene was first reported in relation to autosomal dominant BCL11A-related intellectual disability in 2016 (27453576: Dias et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included eight unique heterozygous variants (three missense, one predicted null, and four predicted premature truncations) identified in eight unrelated probands from four publications (27453576: Dias et al. 2016; 28589569: Yoshida et al. 2017; 28891213: Cai et al. 2017; 28960836: Soblet et al. 2018). All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. This gene-disease relationship is supported by expression in the developing cerebral cortex and hematopoietic cells, functional alteration studies in non-patient cells demonstrating a consistent LOF effect of three missense variants on localization, dimerization, and transcriptional regulatory activity, and a haploinsufficiency mouse model showing microcephaly, narrow skull, behavioral evidence of memory impairment and altered social interactions, and altered transcriptional profiles in the cortex and cerebellum (27453576: Dias et al. 2016). In summary, there is strong evidence to support the relationship between BCL11A and autosomal dominant BCL11A-related intellectual disability. Additional reports in humans published three years from the first proposal of the association are needed to reach a definitive classification."	"27453576, 28589569, 28891213, 28960836, 27453576 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100029"	"2020-10-15"
"GENCC_000105-HGNC_21684-MONDO_0032836-HP_0000006-GENCC_100001"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"weiss-kruszka syndrome"	"MONDO:0032836"	"weiss-kruszka syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-06-25 00:00:00"	""	"ZNF462 was first reported in relation to autosomal dominant Weiss-Kruszka syndrome in 2017 (28513610: Weiss et al. 2017). At least seven unique loss-of-function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven probands from two publications (28513610: Weiss et al. 2017; 31361404: Kruszka et al. 2019). Majority of the variants were de novo and in one family, a variant in this gene segregated with disease in four additional family members. In one four-generation family. The mechanism for disease is heterozygous, loss of function variants. This gene-disease association is supported by expression studies that demonstrate a higher expression in fetal brain and liver, and varying expression in the brain in different developmental stages of mice. Animal models suggest that ZNF462 plays a crucial role in during vertebrate embryonic development and Zfp462+/− mice recapitulate the clinical presentation in humans (11347906: Nagase et al. 2017; 19111535: Laurent et al. 2009; 27621227: Wang et al. 2017).  In summary, ZNF462 is definitively associated with autosomal dominant ZNF462-related spectrum disorder."	"19111535, 27621227, 28513610, 31361404"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100030"	"2020-10-15"
"GENCC_000105-HGNC_20152-MONDO_0007828-HP_0000006-GENCC_100004"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"Marsili syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-06-26 00:00:00"	""	""	"29253101"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100031"	"2020-10-15"
"GENCC_000105-HGNC_11041-MONDO_0024237-HP_0000007-GENCC_100003"	"HGNC:11041"	"SLC5A6"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11041"	"SLC5A6"	"MONDO:0024237"	"SLC5A6-related neurodegeneration, infantile-onset, biotin-responsive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-02 00:00:00"	""	""	"31754459, 31392107, 9516450, 25809983, 23104561, 29669219"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100032"	"2020-10-15"
"GENCC_000105-HGNC_7618-MONDO_0032934-HP_0000006-GENCC_100002"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-05-22 00:00:00"	""	"The PPP1R12A gene is located on chromosome 12 at 12q21.2-q21.31 and encodes protein phosphatase 1 regulatory subunit 12A. This protein forms part of myosin phosphatase, an enzyme that plays an important regulatory role in cell morphology and motility. PPP1R12A was first reported in relation to autosomal dominant genitourinary and/or brain malformation syndrome in 2020 (31883643: Hughes et al. 2020). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Twelve unique variants, all of which were predicted null, have been reported in humans (31883643: Hughes et al. 2020). In the majority of cases, the variants were shown to have occurred de novo. The mechanism for disease is haploinsufficiency. This gene-disease relationship is supported by expression in the brain and urogenital system during embryonic development (31883643: Hughes et al. 2020) and overlapping phenotypes observed in C. elegans (10208747: Wissman et al. 1999), Drosophila (12505998: Tan et al. 2003), and zebrafish models (19515695: Weiser et al. 2009). In summary, there is strong evidence to support the relationship between PPP1R12A and autosomal dominant genitourinary and/or brain malformation syndrome. Additional reports in humans published at least three years from the first proposal of the association are needed to reach a definitive classification."	"31883643, 12505998, 10208747, 19515695"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100033"	"2020-10-15"
"GENCC_000105-HGNC_24713-MONDO_0060707-HP_0000006-GENCC_100003"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"MONDO:0060707"	"Ververi-Brady syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-05-14 00:00:00"	""	""	"28692176, 30281152"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100034"	"2020-10-15"
"GENCC_000105-HGNC_18037-MONDO_0015452-HP_0000006-GENCC_100002"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-03-06 00:00:00"	""	"The ARID2 gene is located on chromosome 12 at 12q12 and encodes the AT-rich interaction domain 2 protein, which is subunit of the SWI/SNF chromatin remodeling complex (PBAF). The PBAF complex facilitates transcriptional activation and repression of select genes by chromatin remodeling. ARID2 was first reported in relation to autosomal dominant, Coffin-Siris syndrome in 2015 (26238514: Shang et al. 2015). At least six unique loss-of-function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. De novo variants in this gene have been reported in at least six probands from four publications (26238514: Shang et al. 2015; 28124119: Bramswig et al. 2017; 29698805: Gazdagh et al. 2018; 30838730: Khazanchi et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is consistent with haploinsufficiency. This gene-disease relationship is supported by expression studies that demonstrate ubiquitous expression of ARDI2 throughout the developing spinal cord, brain and other embryonic tissues such as heart and liver in mouse,  and biochemical function (26238514: Shang et al. 2015). Additionally, ARID2 is one of the three ARID proteins in SWI/ SNF complex, which is divided into BAF and PBA complex. The BAF complex is important in human brain development and five subunits of the BAF complex are associated with neurobehavioral disorders. In summary, there is strong evidence to support the relationship between ARID2 and Coffin-Siris syndrome, autosomal dominant. Additional experimental evidence is needed to reach a definitive classification."	"26238514, 28124119, 29698805, 30838730"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100035"	"2020-10-15"
"GENCC_000105-HGNC_467-MONDO_0010516-HP_0001417-GENCC_100003"	"HGNC:467"	"AMMECR1"	"MONDO:0010516"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"MONDO:0010516"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:467"	"AMMECR1"	"MONDO:0010516"	"midface hypoplasia hearing impairment elliptocytosis nephrocalcinosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-28 00:00:00"	""	""	"29193635, 28089922, 27811305"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100036"	"2020-10-15"
"GENCC_000105-HGNC_8527-MONDO_0009492-HP_0000007-GENCC_100001"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl CoA:3-oxoacid CoA transferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-04-23 00:00:00"	""	""	"18757852, 30799594, 10964512, 21296660, 15669687, 17169596, 28178565 , 21209089"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100037"	"2020-10-15"
"GENCC_000105-HGNC_14896-MONDO_0060496-HP_0000007-GENCC_100002"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-01-15 00:00:00"	""	"The SPTBN4 gene is located on chromosome 19 at 19q13.2 and encodes the spectrin beta, non-erythrocytic 4 protein, one of the spectrin family of proteins. The spectrin beta, non-erythrocytic 4 protein is a scaffold protein that links actin cytoskeleton to the plasma membrane and is important for appropriate localization of specific membrane proteins, including ion channels in axons of neurons. SPTBN4 was first related in relation to an autosomal recessive neurodevelopmental disorder in 2017 (28540413: Knierim et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven unrelated individuals in four publications, with variants showing segregation with disease in at least two additional family members (28940097: Anazi et al. 2017; 28540413: Knierim et al. 2017; 29861105: Wang et al. 2018; 31857255: Hausler et al. 2019). At least seven unique variants have been reported, all of which were predicted null. Loss of function appears to be the mechanism of disease. This gene-disease association is supported by mouse and piglet models that recapitulate the human phenotype, displaying hypotonia, tremors, neuropathy, myopathy, and central hearing loss (31850074: Derks et al. 2019; 11528393: Parkinson et al. 2001). Expression is specific and consistent with the neuronal/neuromuscular pathology observed in patients and animal models, with high expression in neurons and enrichment in nodes of Ranvier and axon initial segment (11086001: Berghs et al. 2000). In summary, there is strong evidence to support the relationship between SPTBN4 and autosomal recessive SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Additional reports in humans published three years from the first proposal of the association are needed to reach a definitive classification."	"29861105, 31857255, 28940097, 28540413, 11086001, 31850074, 11528393"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100038"	"2020-10-15"
"GENCC_000105-HGNC_19088-MONDO_0030918-HP_0000006-GENCC_100002"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"ASH1L-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-09-05 00:00:00"	""	"The ASH1L gene is located on chromosome 1 at 1q22 and encodes the ASH1 like histone lysine methyltransferase protein, which is responsible for methylating Lys-36 of histone H3. ASH1L was first reported in relation to autosomal dominant ASH1L-related intellectual disability in 2012 (23033978: de Ligt et al. 2012). At least six unique de novo variants have been reported, including missense, frameshift, stop-gained variants.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in three publications (23033978: de Ligt et al. 2012; 28191889: Stessman et al. 2017; 29276005: Faundes et al. 2018). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease association is supported by somewhat limited experimental evidence, including expression of ASH1a in the zebrafish brain and during early epiphysial neurogenesis and a null zebrafish model that demonstrates importance of ASH1a in neurogenesis in zebrafish (12702659: Cau and Wilson 2003). In summary, there is strong evidence to support the relationship between ASH1L and autosomal dominant ASH1L-related intellectual disability."	"23033978, 28191889, 29276005, 12702659, "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100039"	"2020-10-15"
"GENCC_000105-HGNC_26837-MONDO_0010310-HP_0001417-GENCC_100001"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"Osteopathia striata with cranial sclerosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-07-20 00:00:00"	""	""	"19079258, 22716240, 27369646, 9327263, 8723089,  20209645, 20950377,  22043478, 17204608, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100135"	"2020-10-15"
"GENCC_000105-HGNC_29007-MONDO_0010509-HP_0001417-GENCC_100003"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"FRMPD4-related X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-23 00:00:00"	""	""	"25644381, 29267967,  29267967, 19118189"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100041"	"2020-10-15"
"GENCC_000105-HGNC_2869-MONDO_0032775-HP_0000007-GENCC_100003"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"DHPS-related neurodevelopmental disorder with seizures and speech and walking impairment"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-09 00:00:00"	""	""	"30661771, 17360499, 21850436, "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100042"	"2020-10-15"
"GENCC_000105-HGNC_12766-OMIM_194190-HP_0000006-GENCC_100001"	"HGNC:12766"	"NSD2"	"MONDO:0008684"	"Wolf-Hirschhorn syndrome"	"OMIM:194190"	"OMIM:194190"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12766"	"NSD2"	"OMIM:194190"	"NSD2-related Wolf-Hirschhorn syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-04-16 00:00:00"	""	"NSD2 was first reported in relation to autosomal dominant NSD2-Wolf-Hirschhorn syndrome in 2017 (28600779: Monies et al. 2017). At least six unique de novo, loss-of -function variants have been reported in the literature.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from three publications (29892088: Derar et al. 2018; 29760529: Lozier et al. 2018; 31171569: Barrie et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is loss of function (31171569: Barrie et al. 2019). This gene-disease relationship is supported by expression studies, which show that fetal brain contained the most complex pattern of transcripts and is expressed in mouse brain, ganglia, neural tube, jaw, frontal face region, intestinal and lung epithelium, liver, adrenals, and the urogenital system (9618163: Stec et al. 1998). In addition, Whsc1-deficient heterozygote mice present with severe growth and craniofacial defects (19483677: Nimura et al. 2009). In summary, NSD2 is definitively associated with autosomal dominant NSD2-Wolf-Hirschhorn syndrome."	"29892088, 29760529, 31171569, 9618163, 19483677"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100043"	"2020-10-15"
"GENCC_000105-HGNC_18873-MONDO_0014367-HP_0000006-GENCC_100001"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-03-04 00:00:00"	""	"The IFIH1 gene is located on chromosome 2 at 2q24.2 and encodes the interferon induced with helicase C domain 1 protein which is associated with innate immunity. This protein identifies and attaches to double stranded RNA from certain viruses, forming a filament which stimulates the induction of interferon and proinflammatory cytokines. The IFIH1 gene was first reported in relation to autosomal dominant Aicardi-Goutieres syndrome in 2014 (24686847: Rice et al. 2014). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique missense variants in this gene have been reported in at least three publications (24686847: Rice et al. 2014; 24995871: Oda et al. 2014; 30219631: Adang et al. 2018). Most variants were confirmed to be de novo; however, in one case the variant was inherited from a clinically asymptomatic father (24686847: Rice et al. 2014). The maximum score for genetic evidence has been reached. This gene-disease relationship is supported by functional alteration in non-patient and patient cells demonstrating disease-associated IFIH1 variants result in excessive interferon signalling, suggesting gain-of-function as the disease mechanism (24686847: Rice et al. 2014). Homozygous knockout mice show impaired interferon signalling in response to picornavirus infection (16625202: Kato et al. 2006). In summary, IFIH1 is definitively associated with Aicardi-Goutieres syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. "	"24686847, 24995871, 30219631, 16625202"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100044"	"2020-10-15"
"GENCC_000105-HGNC_30778-OMIM_615074-HP_0000006-GENCC_100002"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"OMIM:615074"	"OMIM:615074"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30778"	"GATAD2B"	"OMIM:615074"	"GATAD2B-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-12 00:00:00"	""	"The GATAD2B gene is located on chromosome 1 at 1q21.3 and encodes the GATA zinc finger domain containing 2B protein, a transcriptional repressor. GATAD2B is a component of the methyl-CpG-binding protein-1 complex, which is involved in the deacetylation of methylated nucleosomes. GATAD2B was first reported in relation to autosomal dominant intellectual disability in 2013 (23033978: de Ligt et al. 2012). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven probands in five publications (23033978: de Ligt et al. 2012; 23644463: Willemsen et al. 2013; 28077840: Luo et al. 2017; 30346093: Rabin et al. 2018; 30482549: Ueda et al. 2019). All cases were heterozygous for predicted loss of function variants, and variants were confirmed or assumed de novo in all cases, although in two cases, the proband’s healthy mother was noted to be low-level mosaic for the variant. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Haploinsufficiency is implicated as the mechanism of disease. This gene-disease relationship is supported by limited animal model data. Pan-neuronal siRNA knockdown (to ~30% of wildtype) of the GATAD2 homolog in drosophila lead to a deficit in habituation, which was used as a measure of intellectual disability (23644463: Willemsen et al. 2013). Knockdown flies also showed evidence of synaptic structure abnormalities in larval neuromuscular junction, implicating a role of the protein in synaptic function. In summary, there is strong evidence to support the relationship between GATAD2B and autosomal dominant intellectual disability. Although the association has been repeated demonstrated in the clinical diagnostic setting, additional experimental evidence is needed to reach a definitive classification. "	"30346093, 23033978, 23644463, 28077840, 30482549"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100045"	"2020-10-15"
"GENCC_000105-HGNC_15766-MONDO_0014379-HP_0000006-GENCC_100001"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive "	"2020-02-27 00:00:00"	""	"The ADNP gene is located on chromosome 20 at 20q13.13 and encodes the activity dependent neuroprotector homeobox protein, which regulates gene expression via chromatin remodeling. ADNP was first reported in relation to autosomal dominant ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder in 2014 (24531329: Helsmoortel et al. 2014). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique de novo loss-of-function variants have been reported in probands from three publications (24531329: Helsmoortel et al. 2014; 25057125: Pescosolido et al. 2014; 31029150: Bend et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by protein interaction with SWI/SNF chromatin remodelling complex subunits, dysregulated gene expression in ADNP knockout mouse embryos, and a heterozygous knockout mouse model that shows strong phenotypic overlap with human patients (17878164: Mandel & Gozes 2007; 17222401: Mandel et al. 2007; 30106381: Hacohen-Kleiman et al. 2018). In summary, ADNP is definitively associated with autosomal dominant ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"24531329, 25057125, 31029150, 17878164, 17222401"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100046"	"2020-10-15"
"GENCC_000105-HGNC_26178-MONDO_0005045-HP_0000006-GENCC_100003"	"HGNC:26178"	"FHOD3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:26178"	"FHOD3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-01-23 00:00:00"	""	"The FHOD3 gene is located on chromosome 18 at 18q12.2 and encodes the formin homology 2 domain containing 3, which is associated with actin organization. The FHOD3 gene was first reported in relation to autosomal dominant hypertrophic cardiomyopathy in 2018 (30442288: Ochoa et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five unrelated probands in two publications (30442288: Ochoa et al. 2018; 31742804: Huang et al. 2019). Variants in this gene segregated with disease in one large seven-generation family and in multiple nuclear families (30442288: Ochoa et al. 2018). The mechanism of disease has not been clearly defined, but both missense and in-frame deletion variants have been associated with disease (30442288: Ochoa et al. 2018; 31742804: Huang et al. 2019). This gene-disease relationship is supported by expression data in the developing heart and sarcomeres and functional alteration in non-patient cells demonstrating impaired myofibril maintenance and defective polymerization of actin filaments in cardiomyocytes (21149568: Iskratsch et al. 2010; 26848968: Fujimoto et al. 2016). Rescue experiments in cultured cardiomyocytes and a transgenic mouse line also support a role for FHOD3 in the developing sarcomere (19706596: Taniguchi et al. 2009; 26848968: Fujimoto et al. 2016). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"30442288, 31742804, 26848968, 21149568, 19706596 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100047"	"2020-10-15"
"GENCC_000105-HGNC_11226-MONDO_0011445-HP_0000007-GENCC_100001"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-25 00:00:00"	""	""	"18079167, 17322883, 28237315"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100048"	"2020-10-15"
"GENCC_000105-HGNC_17282-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:17282"	"RIMS1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17282"	"RIMS1"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-03-04 00:00:00"	""	"The RIMS1  gene is located on chromosome 6 at 6q13 and encodes regulating synaptic membrane exocytosis 1. This protein is a member of the RAS gene superfamily and acts to regulate synaptic vesicle exocytosis, including neurotransmitter release at the active zone. It is highly expressed in the brain, where it also regulates synaptic plasticity. RIMS1 was first reported in association with autism spectrum disorder (autosomal dominant ) in 2012 (22542183, Iossifov et al.). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least six unique variants (three frameshift, one missense, two stop-gained) have been reported in six unrelated individuals from three publications (22542183: Iossifov et al. 2012; 25284784: Dong et al. 2014; 30564305: Guo et al. 2018); three of these variants occurred de novo. Additional variants have been reported, including those inherited from an unaffected parent, but these did not meet scoring criteria. In addition to expression and biochemical function evidence (29891949: Wang et al. 2018; 22031440: Kang et al. 2011), this gene-disease relationship is also supported by animal model data, in that RIMS1alpha knockout mice display deficits in learning and memory (15066271: Powell et al.  2004). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.

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

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

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

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

 

LUMPING AND SPLITTING CONSIDERATIONS: 

MIM 271665: Spondylometaepiphyseal dysplasia, short limb-hand type 

Per criteria outlined by the ClinGen Lumping and Splitting Working group, we found evidence of a distinct phenotypes and different modes of inheritance and mechanism of disease. Therefore, we have split curations for Warburgh-Cinotti syndrome and spodylometaepiphyseal dysplasia, short limb-hand type. "	"30449416, 9659899, 11375938, "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100087"	"2020-10-15"
"GENCC_000105-HGNC_11509-OMIM_618218-HP_0000006-GENCC_100003"	"HGNC:11509"	"SYT1"	"MONDO:0033864"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"OMIM:618218"	"OMIM:618218"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11509"	"SYT1"	"OMIM:618218"	"SYT1-associated neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-01-18 00:00:00"	""	"The SYT1 gene was first reported in relation to autosomal dominant SYT1-associated neurodevelopmental disorder in 2018 (30107533: Baker et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique missense variants have been reported in a total of 11 cases, all from a single study (30107533: Baker et al. 2018). All the reported variants were de novo. The mechanism for disease is unknown. This gene-disease relationship is supported by in vitro functional assays and expression data (22031440: Kang et al. 2011; 30107533: Baker et al. 2018). The biochemical function of the protein is well-described, but the mechanism of disease is not entirely clear. In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"30107533, 22031440"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100088"	"2020-10-15"
"GENCC_000105-HGNC_103-OMIM_616418-HP_0000006-GENCC_100002"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"OMIM:616418"	"OMIM:616418"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:103"	"CNNM2"	"OMIM:616418"	"CNNM2-related hypomagnesemia, seizures and intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-08-27 00:00:00"	""	"The CNNM2 gene is located on chromosome 10 at 10q24.32 and encodes the cyclin and CBS domain divalent metal cation transport mediator 2 protein. This protein shows high basolateral expression in the renal tubule segments most involved in magnesium resorption and is also expressed in the brain (21397062: Stuiver et al. 2011). Functional studies suggest it acts to regulate magnesium transport (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). CNNM2 was first reported in relation to CNNM2-related hypomagnesemia, seizures and intellectual disability, autosomal dominant, in 2011 (21397062: Stuiver et al. 2011). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five probands in two publications (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). Three cases carried CNNM2 variants in a heterozygous state, variants occurred de novo in three of these cases. Of the five unique variants, four were missense and one resulted in a frameshift variant and predicted loss of function. Evaluation of the missense variants in vitro indicates a loss of function or hypomorphic mechanism of disease. This gene-disease relationship is supported by experimental data including a zebrafish, CNNM2 morpholino knockdown model which recapitulated the key features of disease, demonstrating a gene dosage dependant reduction in magnesium levels, brain malformation, and signs of neuromuscular impairment. These phenotypes were exacerbated by expression of mutant CNNM2 and rescued by expression of wildtype CNNM2 (24699222: Arjona et al. 2014). Additional experimental support comes from expression studies and in vitro functional assays (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). In summary, there is strong evidence to support the relationship between CNNM2 and autosomal dominant CNNM2-related hypomagnesemia, seizures and intellectual disability. Additional clinical reports are needed to reach a definitive classification."	"24699222, 21397062"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100089"	"2020-10-15"
"GENCC_000105-HGNC_1956-OMIM_610353-HP_0000006-GENCC_100004"	"HGNC:1956"	"CHRNA2"	"MONDO:0012474"	"autosomal dominant nocturnal frontal lobe epilepsy 4"	"OMIM:610353"	"OMIM:610353"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1956"	"CHRNA2"	"OMIM:610353"	"Epilepsy, nocturnal frontal lobe"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-06-03 00:00:00"	""	"The CHRNA2 gene is located on chromosome 8 at 8p21.2 and encodes the cholinergic receptor nicotinic alpha 2 subunit. CHRNA2 is expressed in the brain and is involved with the binding of acetylcholine and the opening of an ion-conducting channel across the plasma membrane (20016990: Steinlein and Bertrand 2010; 25717303: Becchetti et al. 2015). The CHRNA2 gene was first reported in association with autosomal dominant epilepsy, nocturnal frontal lobe,  in 2006 (16826524: Aridon et al. 2006). At least four unique variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Heterozygous missense variants in this gene have been reported in at least four probands from four publications (16826524: Aridon et al. 2006; 25770198: Conti et al. 2015; 25847220: Trivisano et al. 2015; 30809122: Villa et al. 2019). All reported variants were inherited, and variants in this gene segregated with disease in approximately 20 additional family members. A disease mechanism has not been established; two of the identified variants resulted in a loss of receptor function, while a third resulted in increased receptor sensitivity. This association is also supported by expression data, in vitro functional assays, and a shared biochemical function other nicotinic acetylcholine receptor subunit genes (20016990: Steinlein and Bertrand 2010; 16826524: Aridon et al. 2006). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"16826524, 25770198, 25847220, 30809122, 20016990, 16826524 "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100090"	"2020-10-15"
"GENCC_000105-HGNC_21637-MONDO_0100147-HP_0000006-GENCC_100001"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"MONDO:0100147"	"SATB2 associated disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-08-14 00:00:00"	""	"The SATB2 gene is located on chromosome 2 at 2q33.1 and encodes the SATB homeobox 2 protein, a nuclear matrix DNA-binding protein that regulates nuclear gene expression through chromatin remodelling. SAT2B was first reported in relation to autosomal dominant SATB2 associated disorder in 2007 (17377962: Leoyklang et al. 2007). Evidence supporting this gene -disease relationship include case level data and experimental data. Variants in this gene have been reported in at least five probands in three publications (17377962: Leoyklang et al. 2007; 24301056: Docker et al. 2014; 28151491: Bengani et al. 2017). Variants occurred de novo and included three nonsense variants and a frameshift variant. Missense variants have also been associated with the disorder (28151491: Bengani et al. 2017) and more evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of disease is considered to be haploinsufficiency, although one variant has been shown to have a dominant negative effect in vitro (23925499: Leoyklang et al. 2013; 28151491: Bengani et al. 2017). The spatial and temporal expression pattern of Satb2 in the embryonic mouse and chick broadly correlates with those structures affected in cases with SATB2 associated disorder. Satb2 knockout mice recapitulate key features of the clinical disease: heterozygous Satb2 knockout mice demonstrate the early onset of craniofacial dysmorphologies such as cleft palate and incisor hypodontia and/or adontia, while homozygous mice show an exacerbated phenotype that includes skeletal malformations (16960803: Britanova et al. 2006), indicating the phenotype is dose dependent. A conditional knockout mouse model lacking expression of Satb2 in the cortex and hippocampus also recapitulated behaviour abnormalities associated with the disease (30809123: Zhang et al. 2019). In summary, SATB2 is definitively associated with autosomal dominant SATB2 associated disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic setting and has been upheld over time. Notably, 2q32-q33 deletion syndrome is associated with a similar phenotype and a multigene deletion including SATB2. "	"17377962, 24301056, 28151491, 21089028, 30809123, 16960803"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100091"	"2020-10-15"
"GENCC_000105-HGNC_7979-MONDO_0008329-HP_0000006-GENCC_100001"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-08-05 00:00:00"	""	"The NR3C2 gene is located on chromosome 4 at 4q31.23 and encodes nuclear receptor subfamily 3 group C member 2. As a ligand-dependent transcription factor, this protein acts as a receptor for mineralocorticoids such as aldosterone and glucocorticoids and regulates ion and water transport by transactivating target genes with mineralocorticoid response elements. The NR3C2 gene was first reported in relation to autosomal dominant pseudohypoaldosteronism type 1 in 1998 (9662404: Geller et al. 1998). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven individuals from three publications (9662404: Geller et al. 1998; 11344206: Viemann et al. 2001; 16972228: Pujo et al. 2007). In four cases, the variant was confirmed to have occurred de novo, and variants in this gene segregated with disease in at least three additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. Of note, this gene has also been implicated in early-onset autosomal dominant hypertension. This relationship will be assessed separately. The relationship between NR3C2 and autosomal dominant pseudohypoaldosteronism type 1 is supported by the biochemical function of the protein as a ligand-dependent transcription factor that mediates the effects of aldosterone (28804203: Tajima et al. 2017) and by animal model data, as heterozygous knock out mice show elevated plasma renin, angiotensin, and aldosterone levels as well as high levels of sodium in urine and elevated fractional excretion of sodium (9689096: Berger et al. 1998). Homozygous knockout mice show a more severe phenotype characterized by hypovolemia, hyponatremia, hyperkalemia, and failure to thrive, dying within 2 weeks of birth. In summary, NR3C2 is definitively associated with autosomal dominant pseudohypoaldosteronism type 1. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. "	"9662404, 11344206, 16972228, 28804203, 9689096"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100092"	"2020-10-15"
"GENCC_000105-HGNC_13394-OMIM_600995-HP_0000007-GENCC_100001"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"OMIM:600995"	"OMIM:600995"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13394"	"NPHS2"	"OMIM:600995"	"Nephrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-07-30 00:00:00"	""	"The NPHS2 gene is located on chromosome 1 at 1q25.2 and encodes NPHS2 stomatin family member, podocin. Podocin is expressed in the kidney, specifically in podocytes of glomeruli where it is localised at the slit diaphragm. Podocin interacts with nephrin and mediates glomerular permeability and filtration and plays a role in podocyte cell signaling. NPHS2 was first reported in relation to autosomal recessive nephrotic syndrome in 2000 (10742096: Boute et al. 2000). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight unique variants have been reported in seven probands with nephrotic syndrome from three studies in the literature (10742096: Boute et al. 2000; 23242530: Kerti et al. 2013; 17371932: Hinkes et al. 2007). These included two missense variants, a nonsense variant and four small indels resulting in frameshift. Variants in this gene segregated with disease in at least five additional family members across three families. More genetic evidence is available in the literature, but the maximum score for this category has been reached. The mechanism for disease is loss of function. This gene-disease relationship is supported by the specific expression of podocin in the glomeruli of the kidney (10742096: Boute et al. 2000), demonstration of interaction of with nephrin (variants in which are also known to cause nephrotic syndrome) (14570703: Huber et al. 2003), and a mouse model which recapitulates clinical and histological features of the disease (29049388: Tabatabaeifar et al. 2017). In summary, NPHS2 is definitively associated with nephrotic syndrome."	"10742096, 23242530, 17371932, 14570703, 29049388"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100093"	"2020-10-15"
"GENCC_000105-HGNC_11362-OMIM_614162-HP_0000006-GENCC_100001"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"OMIM:614162"	"OMIM:614162"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11362"	"STAT1"	"OMIM:614162"	"chronic mucocutaneous candidiasis, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-08 00:00:00"	""	""	"22730530, 21714643, , 23709754, 21727188"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100094"	"2020-10-15"
"GENCC_000105-HGNC_799-MONDO_0020788-HP_0000006-GENCC_100004"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"ATP1A1-related hypomagnesemia, seizures, and intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-07-31 00:00:00"	""	"The ATP1A1 gene was first reported in relation to autosomal dominant ATP1A1-related hypomagnesemia, seizures, and intellectual disability in 2018 (30388404: Schlingmann et al. 2018). De novo missense variants in the ATP1A1 gene were observed in three individuals with a syndromic form of intellectual disability (30388404: Schlingmann et al. 2018). Specifically, these individuals showed an early onset hypomagnesemia and seizure phenotype with global developmental delay. Two of the cases also presented with autism spectrum disorder. In addition, a de novo splice site variant in the ATP1A1 gene was identified in an individual with autism spectrum disorder (25363768: Iossifov et al. 2014). ATP1A1 is an alpha subunit of  Na+/K+ ATPase which is expressed ubiquitously throughout the brain in both neurons and glia and Na+/K+ ATPase is essential for the regulation of extracellular K+ levels during neuronal activity. Na+/K+ ATPase is composed of a catalytic alpha subunit isoform and an accessory beta subunit isoform, the combination of the two subunit isoforms determines the kinetic characteristics of the enzyme (27148079: Larsen et al. 2016). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. 
Of note, variants in the ATP1A1 gene have also been associated with an autosomal dominant form of Charcot Marie Tooth disease (29499166: Lassuthova et al. 2018). The individuals described did not have intellectual disability, all variants were inherited, and the phenotype is different from those described Schlingmann et al. (2018).. This condition was therefore not curated. "	" 30388404, 27148079"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100095"	"2020-10-15"
"GENCC_000105-HGNC_60-OMIM_608569-HP_0000006-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0012062"	"dilated cardiomyopathy 1O"	"OMIM:608569"	"OMIM:608569"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:60"	"ABCC9"	"OMIM:608569"	"Dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-09 00:00:00"	""	"The ABCC9 gene is located on chromosome 12 at 12p12.1 and encodes the ATP binding cassette subfamily C member 9 protein, which is a subunit of ATP-sensitive potassium channels along with KCNJ11 in cardiac and smooth muscle. The ABCC9 gene was first reported in relation to dilated cardiomyopathy in 2004 (15034580: Bienengraeber et al. 2004). Evidence supporting this gene-disease relationship includes limited case-level and experimental data. Three heterozygous variants (one frameshift, one stop-gained, and one missense) in this gene were reported in three unrelated patients (15034580: Bienengraeber et al. 2004; 24503780: Pugh et al. 2014). The mechanism of disease is unknown, but in vitro analyses of the identified variants suggested they result in partial protein mislocalization and abnormal Katp channel responses to ATP and ADP (15034580: Bienengraeber et al. 2004). ABCC9 is expressed in cardiac tissue and homozygous mice with an exon 5 deletion die prematurely and have decreased ejection fraction and cardiac fraction shortening (24648545: Fahrenbach et al. 2014). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"15034580, 24503780, 24648545"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100096"	"2020-10-15"
"GENCC_000105-HGNC_2745-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"DDX3X-related X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-07-26 00:00:00"	""	"The DDX3X gene is located on chromosome X at Xp11.4 and encodes the DEAD-box helicase 3 X-linked protein. This protein is a member of the DEAD-box ATP-dependent RNA helicases. As a regulator of Wnt-β-catenin signaling, DDX3X plays an important role in embryonic development. DDX3X is also thought to play roles in transcription, translation, and cellular signaling. DDX3X was first reported in relation to DDX3X-related X-linked syndromic intellectual disability in 2015 (26235985: Snijders Blok et al. 2015; 25533962: Deciphering Developmental Disorders Study 2015). More than 35 unique variants, including missense and predicted null variants, have been reported in humans (26235985:Snijders Blok et al. 2015). Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene were curated in six affected females from two publications (26235985: Snijders Blok et al. 2015; 30174453: Carneiro et al. 2018). All variant occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Haploinsufficiency appears to be the mechanism of disease in affected females. This gene-disease association is supported by animal models showing disrupted embryonic development and embryonic lethality and functional alteration studies demonstrating impaired Wnt-β-catenin signaling following gene knockdown (23413191: Cruciat et al. 2013; 27179789: Chen et al. 2017). In summary,the DDX3X gene is definitively associated with DDX3X-related X-linked syndromic intellectual disability.  "	"26235985, 30174453, 23413191, 27179789, 28554332, 27159028"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100097"	"2020-10-15"
"GENCC_000105-HGNC_7648-MONDO_0000508-HP_0000006-GENCC_100002"	"HGNC:7648"	"NBEA"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7648"	"NBEA"	"MONDO:0000508"	"NBEA-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-01-18 00:00:00"	""	"The NBEA gene is located on chromosome 13 at 13q13.3 and encodes the neurobeachin protein. Neurobeachin is an A-kinase anchor protein and thus functions in the anchoring or targeting of protein kinase A. It is highly expressed in the brain, and studies have suggested it may play a role in membrane trafficking in neurons. NBEA was first reported in relation to autosomal dominant NBEA-related intellectual disability in 2018 (30269351: Mulhern et al. 2018). At least eight unique variants, primarily null variants, have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in eight probands from a single publication (30269351: Mulhern et al. 2018). In the majority of cases, the variant occurred de novo. While the maximum score for genetic evidence (12 pts.) has been reached, additional independent reports are needed to replicate the association. The mechanism of disease appears to involve haploinsufficiency. This gene-disease association is supported by expression data and the observation of reduced synaptic current amplitudes in cultured neurons from knock-out mice (11102458: Wang et al. 2000; 23277425: Nair et al. 2013). In summary, there is strong evidence to support this gene-disease relationship. "	"30269351, 11102458, 23277425"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100098"	"2020-10-15"
"GENCC_000105-HGNC_13887-MONDO_0008863-HP_0000007-GENCC_100001"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"sitosterolemia"	"MONDO:0008863"	"sitosterolemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"Sitosterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-12 00:00:00"	""	"The ABCG8 gene is located on chromosome 2 at 2p21 and encodes the ATP binding cassette subfamily G member 8 protein. This protein, which is also referred to as sterolin-2, forms a heterodimer transporter with sterolin-1, which is encoded by the ABCG5 gene. The heterodimeric transporter functions in the elimination of plant sterols, particularly sterol excretion by the liver into bile. ABCG8 was first reported in relation to autosomal recessive sitosterolemia in 2000 (11099417: Berge et al. 2000). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Six cases with variants in this gene were evaluated to support this curation (11099417: Berge et al. 2000; 11452359: Lu et al. 2001; 16029460: Rees et al. 2005). Six unique variants in this gene (homozygous or compound heterozygous) were identified in these cases and included one missense and five predicted null (four stop-gained and one splice). Variants in this gene were confirmed to segregate with the disease in one additional family member, and the missense variant was identified as a founder in the Amish population. More evidence is available in the literature. Genetic and experimental data indicate the mechanism for disease is homozygous loss of function. This gene-disease association is supported by strong expression in the liver and small intestine, protein interaction data, in vitro functional assays of patient-identified variants, and recapitulation of key disease features in homozygous knockout mice (15054092: Graf et al. 2004; 11099417: Berge et al. 2000; 11901146: Repa et al. 2002; 15040800: Klett et al. 2004). In summary, ABCG8 is definitively associated with autosomal recessive sitosterolemia. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"11099417, 11452359, 16029460, 15054092, 11901146, 15040800, 12208867"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100099"	"2020-10-15"
"GENCC_000105-HGNC_3258-MONDO_0011380-HP_0000007-GENCC_100001"	"HGNC:3258"	"EIF2B2"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3258"	"EIF2B2"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-06-17 00:00:00"	""	"The EIF2B2 gene is located on chromosome 14 at 14q24.3 and encodes eukaryotic translation initiation factor 2B subunit beta. EIF2B2 forms a protein complex with four other EIF2B subunits and plays an important role in the initiation of mRNA translation by activating protein synthesis initiation factor 2 through its guanine nucleotide exchange factor activity. EIF2B2 was first reported in relation to leukoencephalopathy with vanishing white matter in 2001 (11704758: Leegwater et al. 2001). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least 12 variants, including missense and loss of function variants have been reported in at least eight probands from four publications (11704758: Leegwater et al. 2001; 14566705: van der Knapp et al. 2003; 15054402: Fogli et al. 2004; 21484434: Matsukawa et al. 2011). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. Clinical evidence indicates that loss of function is the mechanism of disease. This gene-disease association is supported by the biochemical function of EIF2B2 and other genes in the EIF2B complex are associated with the disease (20301435: van der Knaap et al. 2019). Co-immunoprecipitation experiments demonstrate an interaction between EIF2B2 and all four of the other EIF2B subunits (14993275: Richardson et al. 2004). In vitro functional analyses of patient-identified missense variants suggest loss of function, including disruption of interactions with other subunits and impaired translation (14993275: Richardson et al. 2004). In summary, the EIF2B2 gene is definitively associated with leukoencephalopathy with vanishing white matter."	"11704758, 15136673, 20301435, 14993275, 14566705, 15054402, 21484434, 30720246, 20826436"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100100"	"2020-10-15"
"GENCC_000105-HGNC_4921-MONDO_0014858-HP_0000006-GENCC_100002"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"HIVEP2-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-12 00:00:00"	""	"The HIVEP2 gene was first reported in relation to autosomal dominant HIVEP2-related intellectual disability in 2012 (23020937: Rauch et al. 2012). At least six unique variants have been reported in three papers, all of which are de novo, loss of function variants (four null, and two frameshift variants) (23020937: Rauch et al. 2012; 26153216: Srivastava et al. 2016; 27003583: Steinfeld et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. More evidence is available in the literature, but the maximum score for genetic evidence experimental evidence (12 pts.) has been reached. This gene-disease relationship is supported by a homozygous knockout mouse model which exhibited anxiety, increased stress, cognitive impairment, hyperactivity and other brain anomalies; and studies showing interaction with, and expression in the developing brain and co-localisation with, SEF2 (now TCF4), a gene associated with intellectual disability. In summary, there is strong evidence to support the relationship between HIVEP2 and HIVEP2-related intellectual disability (autosomal dominant). Additional reports in humans are needed to reach a definitive classification"	"23020937, 26153216, 27003583, 16836985, 23389689, 10207097"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100101"	"2020-10-15"
"GENCC_000105-HGNC_9251-MONDO_0009737-HP_0000007-GENCC_100001"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"MONDO:0009737"	"galactosialidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"Galactosialidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-10 00:00:00"	""	"The CTSA gene is located on chromosome 20 at 20q13.12 and encodes the protein cathepsin A, which is also called lysosomal protective protein/cathepsin A, or PPCA. This protein is active in lysosomes and plays a critical role in supporting the stability andactivity of beta-galactosidase and neuraminidase. Cathepsin A can also act as a protease. CTSA was first reported in relation to autosomal recessive galactosialidosis in 1993 (8514852: Shimmoto et al. 1993). At least 27 unique variants have been reported in humans, including small deletions/insertions, missense mutations, splicing variants and only one nonsense mutation (28603679: Annunziata & d’Azzo 2017). Recurrent variants include a splice region variant resulting in skipping of exon 7 and two missense variants, Phe458Val and Tyr267Asn. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Seven cases with variants in this gene were evaluated to support this curation (8514852: Shimmoto et al. 1993; 24769197: Prada et al. 2014; 29876240: Okulu et al. 2017; 28555253: Kartal et al. 2017). Segregation data were not available. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Genetic and experimental data indicate the mechanism for disease is homozygous loss of function. This gene-disease relationship is supported by biochemical function data, a knockout mouse model that recapitulates the human disease, and rescue of the biochemical, morphological, and histological features in homozygous null mice by transplantation of bone marrow from a transgenic line overexpressing WT human CTSA in erythroid precursor cells (7590240: Zhou et al. 1996; 28603679: Annunziata & d’Azzo 2017). In summary, CTSA is definitively associated with autosomal recessive galactosialidosis. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"8514852, 24769197, 29876240, 28555253, 28603679, 7590240"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100102"	"2020-10-15"
"GENCC_000105-HGNC_30765-MONDO_0014876-HP_0000007-GENCC_100004"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"TNIK-related intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-12 00:00:00"	""	""	"27106596, 23035106"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100103"	"2020-10-15"
"GENCC_000105-HGNC_23215-MONDO_0013882-HP_0000007-GENCC_100002"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-25 00:00:00"	""	""	"22683086, 24049131, 24417746,  28900819, 27177984, 2833824, 29310717"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100104"	"2020-10-15"
"GENCC_000105-HGNC_33778-MONDO_0009700-HP_0000007-GENCC_100002"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter Syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-04 00:00:00"	""	"The MYMK gene, previously referred to as TMEM8C, is located on chromosome 9 at 9q34.2 and encodes the transmembrane Myomaker protein, which is required for myoblast fusion and the formation of multinucleated myofibers during skeletal muscle development and regeneration. The MYMK gene was first reported in relation to autosomal recessive Carey-Fineman-Ziter syndrome in 2017 (28681861: Di Gioia et al. 2017). At least six unique variants, all missense, have been reported in humans. A majority of individuals carry one copy of the p.Pro91Thr variant. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in seven unrelated probands in three publications (28681861: Di Gioia et al. 2017; 29560417: Alrohaif et al. 2018; 30065953: Hedberg-Oldfors et al. 2018). Variants in this gene segregated with disease in five additional family members, but none of the families met criteria for scoring segregation. Homozygous loss of function is implicated as the mechanism of disease. This gene-disease relationship is also supported by expression data, in vitro functional analyses of reported variants, mouse and zebrafish models, and rescue in the zebrafish model (23868259: Millay et al. 2013; 28681861: Di Gioia et al. 2017). In summary, there is strong evidence to support the relationship between MYMK and Carey-Fineman-Ziter syndrome, autosomal recessive. An additional report in humans published three years from the first proposal of the association is needed to reach a definitive classification."	"23868259, 28681861, 29560417, 30065953"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100105"	"2020-10-15"
"GENCC_000105-HGNC_11110-OMIM_614607-HP_0000006-GENCC_100002"	"HGNC:11110"	"ARID1A"	"MONDO:0013819"	"intellectual disability, autosomal dominant 14"	"OMIM:614607"	"OMIM:614607"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11110"	"ARID1A"	"OMIM:614607"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-21 00:00:00"	""	"The ARID1A gene is located on chromosome 1 at 1p36.11 and encodes the AT-rich interaction domain 1A. This protein is a component of the SWI/SNF complex and plays an important role in chromatin remodeling and DNA transcription, replication, and repair. It also functions in regulating neural stem cell fate and brain development. The ARID1A gene was first reported in relation to autosomal dominant Coffin-Siris syndrome in 2012 (22426308: Tsurusaki et al. 2012). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight unique variants in this gene have been reported in at least three publications (22426308: Tsurusaki et al. 2012; 23929686: Santen et al. 2013; 23906836: Wieczorek et al. 2013). None of the variants were inherited, and at least three were proven de novo. The maximum score for genetic evidence has been reached. Loss of function is implicated as the mechanism of disease; all eight variants curated were heterozygous predicted null, although a truncated protein rather than nonsense-mediated decay was expected for three of the variants. This gene-disease relationship is supported by biochemical pathway (30123105: Bögershausen et al. 2018), protein interaction (20522713: Krosl et al. 2010), and animal model data (26806701: Chandler et al. 2016), as homozygous neural crest cell-specific null mice exhibit embryonic lethality but also features that overlap with the human disease. Heterozyous conditional null mice also partially recapitulate the phenotype. In summary, there is strong evidence to support the relationship between ARID1A and Coffin-Siris syndrome (autosomal dominant). Additional reports in human published after the first proposal of the association are needed to reach a definitive classification. "	"23929686, 22426308, 23906836, 30123105, 20522713, 26806701, 26716708"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100106"	"2020-10-15"
"GENCC_000105-HGNC_3596-MONDO_0033480-HP_0000006-GENCC_100004"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-29 00:00:00"	""	"The FAT2 gene is located on chromosome 5 at 5q33.1 and encodes the FAT atypical cadherin 2 protein, which helps regulate cell migration and is thought to be involved in cerebellar development by organizing the parallel fibers of granule cells. The FAT2 gene was first reported in relation to autosomal dominant spinocerebellar ataxia in 2017 (29053796: Nibbeling et al. 2017). Evidence supporting this gene-disease relationship includes limited case-level and experimental data. Heterozygous missense variants were identified in two unrelated individuals (29053796: Nibbeling et al. 2017). One of the variants segregated with the disease in six additional family members. The mechanism of disease is unknown, but in vitro analyses of the identified variants suggested they resulted in partial protein mislocalization to the golgi and in one case, increased cellular aggregation in the presence of calcium. FAT2 is also almost exclusively expressed in the cerebellum, where it localizes to the parallel fibers of granule cells (12213440: Nakayama et al. 2002). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"29053796, 12213440"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100107"	"2020-10-15"
"GENCC_000105-HGNC_12784-MONDO_0024455-HP_0000006-GENCC_100003"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"Robinow syndrome, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-07 00:00:00"	""	"The WNT5A gene is located on chromosome 3 at 3p14.3 and encodes Wnt family member 5A, which is a ligand for members of the frizzled family of seven transmembrane receptors and is involved in both the canonical and noncanonical signaling pathways, depending upon the receptor context. WNT proteins play an essential role during development, controlling processes such as embryonic patterning, cell growth, migration, and differentiation. The WNT5A gene was first reported in relation to autosomal dominant Robinow syndrome in 2010 (19918918: Person et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least eight probands in four publications (19918918: Person et al. 2010; 24716670: Roifman et al. 2015; 27092434: Xiong et al. 2016; 29276006: White et al. 2018). Variants in this gene segregated with disease in approximately nine additional family members. The mechanism of disease has not been clearly defined, but missense variants were most commonly reported, and functional data for two suggested they were hypomorphic (19918918: Person et al. 2010). This gene-disease relationship is supported by expression and biochemical function data as well as a knock out mouse model (10021340: Yamaguchi et al. 1999; 12839624: Oishi et al. 2003; 16602827: Mikels and Nusse 2006). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"24716670, 27092434, 19918918, 12839624, 16602827, 10021340, 29276006"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100108"	"2020-10-15"
"GENCC_000105-HGNC_8918-MONDO_0010619-HP_0001417-GENCC_100001"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"hypophosphatemic rickets, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-05 00:00:00"	""	"The PHEX gene is located on chromosome X at Xp22.11 and encodes the phosphate regulating endopeptidase homolog X-linked protein, which is predominantly expressed in osteoblasts. PHEX degrades small integrin-binding ligand, N-linked glycoproteins (SIBLING proteins) such as osteopontin and suppresses levels of phosphatonin and fibroblast growth factor 23 (FGF23).  The PHEX gene was first reported in relation to X-linked hypophosphatemic rickets in 1995 (7550339: HYP Consortium, 1995). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At lease seven loss of function variants have been reported in seven cases from four publications. In three of these cases the variants were confirmed to have occurred de novo. Considerably more case level evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. The mechanism of disease is haploinsufficiency.  This gene-disease relationship is supported by evidence that PHEX regulates FGF23 levels, pathogenic variants in PHEX lead to the elevation of FGF23 serum levels which correlate with disease. The elevation of FGF23 serum levels is associated with other forms of non-nutritional diseases of hypophosphatemia (30808384: Back-Nielson et al. 2019). At least four mouse models carrying either a Phex deletion or missense variant fully recapitulate the clinical disease phenotype (22573557:Owen et al. 2012; 30808384: Back-Nielson et al. 2019).  In summary, PHEX is definitively associated with X-linked hypophosphatemic rickets. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"24102521, 29505567, 11502829, 1502829, 21902834, 22573557, 188049, 30808384"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100109"	"2020-10-15"
"GENCC_000105-HGNC_16412-OMIM_616050-HP_0000006-GENCC_100001"	"HGNC:16412"	"NLRC4"	"MONDO:0014472"	"periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"OMIM:616050"	"OMIM:616050"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16412"	"NLRC4"	"OMIM:616050"	"NLRC4-related autoinflammatory syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-17 00:00:00"	""	"The NLRC4 gene is located on chromosome 2 at 2p22.3 and encodes the NLR family CARD domain containing 4 protein. As a key component of the NLRC4 inflammasome, this protein plays an important role in innate immune responses. NLRC4 oligomerization triggers inflammasome assembly and activation, which leads to the activation of caspase-1, production of cytokines such as IL-1β and IL18, and inflammatory cell death, or pyroptosis. NLRC4 was first reported in relation to autosomal dominant NCRL4 related autoinflammatory syndrome in 2014 (25217960: Romberg et al. 201; 25217959: Canna et al. 2014). Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. At least five missense variants have been identified in a heterozygous state in six affected cases (25217960: Romberg et al. 2014; 25217959: Canna et al. 2014; 25385754: Kitamura et al. 2014; 27203668: Volker-Touw et al. 2017; 29778503: Moghaddas et al. 2018). In four affected individuals NLRC4 variants occurred de novo, in two families the NLRC4 variant segregated with disease. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Data examining the impact of pathogenic variants on NLRC4 function, provide evidence for a gain of function mechanism of disease (25217960: Romberg et al. 2014; 25217959: Canna et al. 2014; 25385754: Kitamura et al. 2014). The gene-disease relationship is also supported by a knock-in mouse model which recapitulates the human phenotype (25385754: Kitamura et al. 2014). In summary, NLRC4 is definitively associated with autosomal dominant NCRL4 related autoinflammatory syndrome.
Lumping and splitting considerations: OMIM 616115: Familial cold autoinflammatory syndrome 4; OMIM 616050:Autoinflammation with infantile enterocolitis. According to the criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism or inheritance pattern and the above disorders were ‘lumped’ into the term NLRC4-associated autoinflammatory disease. Duncan and Canna (2018; PMID 29247997) describe the spectrum of NLRC4-associated autoinflammatory diseases and highlight that not all patients with NLRC4 inflammasomopathy develop macrophage activation syndrome (MAS) or enterocolitis. All variants described to date in association with this spectrum of disorders have been heterozygous gain-of-function variants, indicating no difference in inheritance pattern or disease mechanism. Although a small number of patients have been described, the possibility of genotype/phenotype correlation based on variant location has been proposed. "	"25217960, 25217959, 29778503, 27203668, 29247997, 25385754"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100110"	"2020-10-15"
"GENCC_000105-HGNC_3754-MONDO_0010233-HP_0001417-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"periventricular nodular heterotopia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-05-01 00:00:00"	""	"The FLNA gene is located on the X chromosome at Xq28 and encodes the widely expressed actin-binding protein filamin A. This protein interacts with a large number of binding partners that include membrane proteins like receptors and channels as well as intracellular signaling molecules. Through these interactions, filamin A participates in a diverse array of cellular functions, including a key role in cell migration and adhesion. FLNA was first reported in relation to X-linked periventricular nodular heterotopia in 1998 (9883725: Fox et al. 1998). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least seven predicted null variants and two missense variants have been reported in eight cases from three publications (9883725: Fox et al. 1998; 26471271: Lange et al. 2015; 19289478: de Wit et al. 2008). In three of these cases the variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic (12 pts.) has been reached. This gene-disease relationship is supported by the expression of Flna in the brain during mouse embryogenesis, particularly in cells involved in neuronal migration as well as in neuronal growth cones (17172441: Feng et al. 2006). This expression pattern, together with the gene function of FLNA, is consistent with the phenotype spectrum associated with disease (21169733: Nakamura et al. 2011). Although heterotopic neurons are not observed in hemizygous FLNA null mice or heterozygous null mice, similar cardiac and vascular defects are observed, and males show embryonic lethality as observed in the human disease (17172441: Feng et al. 2006). In summary, FLNA is definitively associated with X-linked periventricular nodular heterotopia. This has been repeatedly demonstrated in both research and clinical diagnostic settings, and has been upheld over time. Of note, this gene has also been implicated in otopalatodigital (OPD) spectrum disorders. This gene disease association will be assessed separately."	"26471271, 9883725, 19289478, 21169733, 17172441"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100111"	"2020-10-15"
"GENCC_000105-HGNC_393-MONDO_0014407-HP_0000006-GENCC_100002"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-11 00:00:00"	""	"The AKT3 gene is located on chromosome 1 at 1q43-q44 and encodes the AKT serine/threonine kinase 3 protein, which is associated with regulation of metabolism, proliferation, cell survival, growth and angiogenesis. It also critical for brain development. The AKT3 gene was first reported in relation to autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in 2012 (22729224: Riviere et al. 2012).  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five probands in four publications (22729224: Riviere et al. 2012); 23745724: Nakamura et al. 2014); 25523067: Nellist et al. 2015); 28190287: Takagi et al. 2017). In these cases, the variants reported were de novo and variant level evidence suggested a gain in function. More case level evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) was reached. This gene-disease relationship is supported by expression data showing that AKT3 is the predominant AKT paralog in the brain and a AKT3 knockout mouse model, in which homozygous null mice were observed to have  ~20 % smaller brains than their wildtype litter mates, consistent with a AKT3’s role in regulating brain size (15713641: Easton et al. 2005). In summary, AKT3 is definitively associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome."	"22729224, 23745724, 25523067, 28190287, 15713641"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100112"	"2020-10-15"
"GENCC_000105-HGNC_15925-MONDO_0019557-HP_0000006-GENCC_100005"	"HGNC:15925"	"SAMHD1"	"MONDO:0019557"	"chilblain lupus"	"MONDO:0019557"	"chilblain lupus"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15925"	"SAMHD1"	"MONDO:0019557"	"Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed Evidence"	"2019-02-25 00:00:00"	""	" The SAMHD1 gene is located on chromosome 20 at 20q11.23 and encodes the SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 protein. Through its role in the replication stress response, this protein prevents the induction of interferons and inflammation by limiting the release of single-stranded DNA from stalled replication forks. In addition, its dNTPase activity functions to reduce cellular dNTP levels and restrict viral infection. The SAMHD1 gene was first reported in relation to autosomal dominant chilblain lupus in 2011 (21204240: Ravenscroft et al. 2011). The clinical data supporting this association are limited to a single unconvincing case (Ravenscroft et al. 2011), as the same variant identified in the only reported case has also been reported in a heterozygous state in at least four unaffected individuals (19525956: Rice et al. 2009; 20653736: Ramesh et al. 2010; 30275001: Haskell et al. 2018). Of note, this gene has also been implicated in Aicardi-Goutieres syndrome. This will be assessed separately. In summary, there is convincing evidence disputing the association between SAMHD1 and autosomal dominant chilblain lupus. More evidence is needed to either support or refute the role SAMHD1 plays in this disease.
Lumping and Splitting: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in inheritance pattern and phenotype. An assertion for an independent disease association has been made (21204240: Ravenscroft et al. 2011), but the autosomal dominant disorder of chilblain lupus has also been suggested to be a forme fruste of the primary autosomal recessive manifestation of Aicardi-Goutieres syndrome (AGS) (17357087: Rice et al. 2007; 27604406: Yarbrough et al. 2016). The phenotypes are largely distinct in that typical AGS is much more severe; however, chilblains are sometimes present in SAMHD1 AGS, and atypical AGS can result in a lupus-like phenotype. No difference in molecular mechanism has been asserted. For these reasons, we have split curations for the disease entities chilblain lupus and Aicardi-Goutieres syndrome."	"21204240, 19525956, 29670289"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100113"	"2020-10-15"
"GENCC_000105-HGNC_19940-MONDO_0020642-HP_0000007-GENCC_100008"	"HGNC:19940"	"AQP11"	"MONDO:0020642"	"polycystic kidney disease"	"MONDO:0020642"	"polycystic kidney disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:19940"	"AQP11"	"MONDO:0020642"	"polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2019-04-09 00:00:00"	""	"The AQP11 gene is located on chromosome 11 at 11q14 and encodes aquaporin 11, an atypical member of the aquaporin family of membrane water channels. Variants in this gene have not been linked to human disease, so this association is based on experimental evidence only.  AQP11 is strongly expressed in the proximal tubules of the kidney and localizes to the cytoplasm, particularly the endoplasmic reticulum (16107722: Morishita et al. 2005; 24854278: Inoue et al. 2014). Homozygous AQP11 null mice as well as mice homozygous for an AQP11 missense variant develop polycystic kidneys, vacuolization of proximal tubule cells, and severe renal failure, recapitulating key features of polycystic kidney disease in humans (16107722: Morishita et al. 2005; 18701606: Tchekneva et al. 2008). Further studies of these animals suggest that ER stress, oxidative stress, and disrupted function of polycystin may play a role in the development of the disease, but the physiological functions of AQP11 remain incompletely understood (18606867: Okada et al. 2008; 23486012: Atochina-Vasserman et al. 2013; 24854278: Inoue et al. 2014) , summarized in Matsuzaki et al. (2017) (26798062). In summary, only experimental evidence is available to support this gene-disease association. Human genetic evidence is needed to support a causal role."	"16107722 , 24854278, 24854278 , 18701606 "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100114"	"2020-10-15"
"GENCC_000105-HGNC_10669-MONDO_0011921-HP_0000006-GENCC_100004"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"aural atresia, congenital"	"MONDO:0011921"	"aural atresia, congenital"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"Congenital aural atresia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-07-19 00:00:00"	""	"The TSHZ1 gene is located on chromosome 18 at 18q22.3 and encodes the teashirt zinc finger homeobox 1 protein. TSHZ1 is a putative zinc finger transcription factor that is expressed throughout the embryo during development (15834955: Caubit et al. 2005; 17586487: Core et al. 2007). TSHZ1 was first reported in relation to autosomal dominant congenital aural atresia in 2011 (22152683: Feenstra et al. 2011). Evidence supporting this gene-disease relationship includes case level data and experimental data. At least two variants, a stop gained variant and a frameshift variant, have been found in a heterozygous state in two individuals from one report in the literature, both with a phenotype of congenital aural atresia and hyposmia (22152683: Feenstra et al. 2011; 24487590: Ragancokova et al. 2014). Temporal and spatial expression of Tshz1 mRNA during development of the middle ear is consistent with the phenotype (17586487: Core et al. 2007). Embryos of the homozygous Tsh2 null mouse model showed a middle ear malformation as well as neonatal lethality, and a conditional nervous system-specific Tshz1 knock out mouse model demonstrated hyposmia (17586487: Core et al. 2007; 24487590: Ragancokova et al. 2014).  In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"22152683, 17586487, 15834955, 24487590"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100115"	"2020-10-15"
"GENCC_000105-HGNC_11219-MONDO_0014672-HP_0000007-GENCC_100004"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-29 00:00:00"	""	"The SPARC gene is located on chromosome 5 at 5q33.1 and encodes the secreted protein acidic and cysteine rich, or osteonectin protein. SPARC was first reported in relation to autosomal recessive osteogenesis imperfecta in 2015 (26027498: Mendoza-Londono et al. 2015). Evidence supporting this gene-disease relationship includes limited case-level data and experimental data. Two unique homozygous missense variants in this gene were reported in two unrelated patients who showed repeated fractures, kyphoscoliosis, joint hyperlaxity, and underdeveloped muscles of the lower extremities, resulting in a clinical diagnosis of osteogenesis imperfecta type IV (26027498: Mendoza-Londono et al. 2015). Both variants were located in the calcium binding domain responsible for the binding of SPARC to collagen, and skin fibroblasts from both patients showed collagen abnormalities suggestive of a damaging effect of the variants. Neither the heterozygous parents of the patients nor heterozygous mutant mice showed a phenotype. Loss of function has been suggested as the mechanism of disease, but additional evidence is needed. This gene-disease relationship is supported by expression data, protein-interaction data, and mouse model data. The SPARC protein is highly expressed in osseous tissue with high turnover (26851678: Rosset and Bradshaw 2016) and interacts with various forms of collagen (745554: Sage et al. 1989). Homozygous SPARC null mice develop low-turnover osteopenia, cataracts, intervertebral disc degeneration, and increased adiposity (9524110: Gilmour et al. 1998; 10749571: Delany et al. 2000; 12721366: Bradshaw et al. 2003; 15879573: Gruber et al. 2005). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"26027498, 745554, 26851678, 10749571"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100116"	"2020-10-15"
"GENCC_000105-HGNC_6484-MONDO_0014095-HP_0000006-GENCC_100004"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-08 00:00:00"	""	"The LAMA4 gene is located on chromosome 6 at 6q21 and encodes laminin subunit alpha 4. Laminins are a major component of basement membranes, and laminins containing α4 subunits are highly expressed in the microvasculature, cardiomyocyte sarcolemma, and cardiac and skeletal muscle. Laminins serve both structural and signaling roles and have been implicated in a diverse array of cellular functions such as cell adhesion and differentiation. LAMA4 was first reported in relation to an autosomal dominant dilated cardiomyopathy in 2007 (17646580: Knöll et al. 2007). At this time, evidence supporting this gene-disease relationship is limited to experimental data. Heterozygous variants in the LAMA4 gene have been reported in a small number of individuals with dilated cardiomyopathy (17646580: Knöll et al. 2007; 26406308: Marston et al. 2015), but none of these variants had sufficient evidence for disease causality. More recently, heterozygous LAMA4 variants have been reported in cases with possible alternative molecular bases for disease (25979592: Waldmüller et al. 2015; 29253866: Klauke et al. 2017; 30165862: Lu et al. 2018; 30764827: Refaat et al. 2019; 30650640: Abdallah et al. 2019; 29415625: Laenens et al. 2019). Homozygous LAMA4 knockout mice show microvascular anomalies and develop cardiomyopathy, neurological dysfunction, and kidney disease, while heterozygous mice do not show a phenotype (11809810: Thyboll et al. 2002; 11369940: Patton et al. 2001; 15814800: Wallquist et al. 2005; 16204254: Wang et al. 2006; 20035058: Abrass et al. 2010). Approximately one-third of zebrafish treated with morpholinos against LAMA4 show cardiovascular dysfunction and hemorrhage, but fish injected with a lower dose show no phenotype (17646580: Knöll et al. 2007). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"16204254, 11809810, 17646580, 26406308, 20035058"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100117"	"2020-10-15"
"GENCC_000105-HGNC_3823-MONDO_0013352-HP_0000006-GENCC_100001"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"FOXP1-related intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-29 00:00:00"	""	"The FOXP1 gene is located on chromosome 3 at 3p13 and encodes the forkhead box P1 protein, which is a transcriptional repressor that promotes columnar organization of spinal motor neurons and plays a role in specification and differentiation of lung epithelium, regulation of B-cell development and cardiac muscle cell proliferation. The FOXP1 gene was first reported in relation to autosomal dominant FOXP1-related intellectual disability syndrome in 2010 (20950788: Hamdan et al. 2010). At least six unique variants have been reported in humans, including missense and predicted null variants. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in three publications (20950788: Hamdan et al. 2010; 26647308: Sollis et al. 2016; 28735298: Meerschaut et al. 2017). All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of disease involves haploinsufficiency. This gene-disease relationship is also supported by expression data, in vitro functional assays, and data from a knockout mouse model (12687690: Ferland et al. 2013; 26647308: Sollis et al. 2016). In summary, FOXP1 is definitively associated with autosomal dominant FOXP1-related intellectual disability syndrome."	"20950788, 26647308, 28735298, 12687690, 25266127"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100118"	"2020-10-15"
"GENCC_000105-HGNC_8632-MONDO_0060549-HP_0000006-GENCC_100002"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-03-07 00:00:00"	""	"The PBX1 gene is located on chromosome 1 at 1q23.3 and encodes the PBX homeobox 1 protein, a homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate gene transcription during development. PBX1 is specifically involved in body axes patterning and organogenesis (12591246: Schnabel 2003; 18723445: Stankunas et al. 2008). PBX1 was first reported in relation to autosomal dominant PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in 2017 (28566479: Heidet et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least seven de novo variants, in a heterozygous state, have been found in seven cases with a spectrum of intellectual disability and pleiotropic developmental defects, from three reports in the literature (28566479: Heidet et al. 2017; 29036646: Slavotinek et al. 2017; 29226118: Riedhammer et al. 2017). These included three missense variants, a nonsense variant, two small deletions leading to a frameshift, and a splicing variant. More genetic evidence has been reported in the literature, but the maximum score for this category has been reached (12 pts). Expression data in the mouse and phenotype data from the homozygous null mouse model demonstrated that the Pbx1 protein is expressed in multiple tissues during embryogenesis and is required for the correct patterning and development of multiple organs as well as skeletal development, which is consistent with the clinical spectrum of disease (11566859: Selleri et al. 2001; 18723445: Stankunas et al. 2008; 18849531: Chang et al. 2008). In summary, there is strong evidence to support the relationship between PBX1 and autosomal dominant PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay. Three years must elapse from the first proposal of the association to reach a definitive classification."	"28566479, 29036646, 29226118, 18723445, 18849531, 11566859"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100119"	"2020-10-15"
"GENCC_000105-HGNC_17104-MONDO_0013642-HP_0000006-GENCC_100003"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"holoprosencephaly 11"	"MONDO:0013642"	"holoprosencephaly 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"CDON-related holoprosencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-04-03 00:00:00"	""	"The CDON gene is located on chromosome 11 at 11q24.2 and encodes the cell adhesion associated, oncogene regulated protein. This protein, which is a member of the immunoglobulin superfamily, is highly expressed during embryonic development and functions as part of a cell surface receptor complex in the Sonic hedgehog signalling pathway. The CDON gene was first reported in relation to an autosomal dominant form of holoprosencephaly in 2011 (21802063: Bae et al. 2011). At least five missense variants and one stop gained variant have been reported. Evidence supporting this gene-disease relationship includes case level data and experimental data. Variants in the CDON gene have been reported in at least six probands from three publications (21802063: Bae et al. 2011; 26728615: Jones et al. 2016; 26529631: Bashamboo et al. 2016). This gene-disease relationship is supported by expression studies that are consistent with the disease (10974670: Mulieri et al. 2000) and in vitro experimental data demonstrating physical protein interaction with the SHH gene, which is also associated with a holoprosencephaly phenotype (21802063: Bae et al. 2011).  A homozygous mouse model showed facial defects of microform holoprosencephaly along with increased neonatal mortality, and reduction of CDON mRNA in the embryos of zebrafish and chick recapitulated the optic anomalies of the disease phenotypic spectrum (12620190: Cole et al. 2003; 25001599: Cardozo et al. 2014).  In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"21802063, 26529631, 26728615, 10974670, 12620190, 25001599"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100120"	"2020-10-15"
"GENCC_000105-HGNC_29090-MONDO_0011323-HP_0000006-GENCC_100002"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"Bosma arhinia microphthalmia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-04-03 00:00:00"	""	""	"29748383, 28067911, 28067909"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100121"	"2020-10-15"
"GENCC_000105-HGNC_59-MONDO_0009734-HP_0000006-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-29 00:00:00"	""	""	"11445544, 18596924, 15579781, 12941782, 11018078"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100122"	"2020-10-15"
"GENCC_000105-HGNC_7713-MONDO_0009640-HP_0000007-GENCC_100003"	"HGNC:7713"	"NDUFS6"	"MONDO:0009640"	"mitochondrial complex I deficiency, nuclear type"	"MONDO:0009640"	"mitochondrial complex I deficiency, nuclear type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:7713"	"NDUFS6"	"MONDO:0009640"	"mitochondrial complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-22 00:00:00"	""	"The NDUFS6 gene is located on chromosome 5 at 5p15.33 and encodes the NADH:ubiquinone oxidoreductase subunit S6 protein. This protein is an accessory subunit of the first enzyme complex in the mitochondrial electron transport chain (complex 1) and aids the transfer of electrons from NADH to the respiratory chain. NDUFS6 was first reported in relation to autosomal recessive mitochondrial complex I deficiency in 2004 (15372108: Kirby et al. 2004). Evidence supporting this gene-disease relationship includes case-level and experimental data. At least five unique variants have been reported in affected individuals in three publications including one recurrent missense variant found in a homozygous state in two individuals of Ashkenazi Jewish origin (thought to be a common founder variant in this population), one splice donor site variant found in a homozygous state in one individual, one intragenic deletion found in a homozygous state in one individual and two frameshift variants found in a compound heterozygous state in one individual (15372108: Kirby et al. 2004; 19259137: Spiegel et al. 2009; 27290639: Pronicka et al. 2016). The mechanism of disease in unknown.This gene-disease relationship is supported by gene-trap knockdown mouse models showing reduced expression of Ndufs6 in cardiac and renal tissues showed the role of complex I in organ function, and the demonstration of reduced complex I activity and defects in mitochondrial function in non-patient cells (22474353: Ke et al. 2012; 23320803: Forbes et al. 2013; 25902503: Kmita et al. 2015). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"15372108, 27290639, 25902503, 22474353, 23320803, 19259137"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100123"	"2020-10-15"
"GENCC_000105-HGNC_14255-MONDO_0015022-HP_0000006-GENCC_100002"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-03-01 00:00:00"	""	""	" 27939639, 27939640, 24646517, 25568313"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100124"	"2020-10-15"
"GENCC_000105-HGNC_9957-MONDO_0009760-HP_0000007-GENCC_100001"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"MONDO:0009760"	"Norman-Roberts syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Lissencephaly (Norman-Roberts syndrome)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-02-21 00:00:00"	""	""	"10973257, 27000652, 29671837 , 16438965"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100125"	"2020-10-15"
"GENCC_000105-HGNC_132-OMIM_607371-HP_0000006-GENCC_100004"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"OMIM:607371"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:132"	"ACTB"	"OMIM:607371"	"Juvenile onset dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-09-03 00:00:00"	""	"The ACTB gene was first reported in relation to autosomal dominant juvenile onset dystonia in 2006 (16685646: Procaccio et al. 2006). Evidence supporting this gene-disease relationship includes case-level data and experimental data. A single recurrent missense variant in this gene has been reported in five unrelated cases from five reports. At least one case was confirmed as de novo inheritance, with another family showing inheritance of the variant in an affected daughter from her affected mother (16685646: Procaccio et al. 2006; 28487785: Conboy et al. 2017; 27862284: Eggink et al. 2017; 28849312: Zech et al. 2017; 29788902: Skogseid et al. 2018). The mechanism for disease is unknown. Of note, this gene has also been implicated in Baraitser–Winter Cerebrofrontofacial syndrome and ACTB-related syndromic thrombocytopenia. These will be assessed separately. This gene-disease relationship is supported by a knockout mouse model which recapitulates the progressive sensorineural hearing loss phenotype observed patients. Beta actin plays a specific role in maintenance of sterocilia of the inner ear, loss of beta actin in the knockout mice specifically leads to the degeneration of the stereocilia of the outer hair cells (30012594: Patrinostro et al. 2018). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"28487785, 16685646, 29788902, 27862284, 28849312, 30012594"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100126"	"2020-10-15"
"GENCC_000105-HGNC_7788-MONDO_0013885-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"MONDO:0013885"	"Malan overgrowth syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-11 00:00:00"	""	"The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a transcription factor that binds a palindromic sequence in cellular and viral promoters, promotes adenovirus replication, and has been implicated in brain and skeletal development. The NFIX gene was first reported in relation to autosomal dominant Malan syndrome in 2010 (20673863: Malan et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least eight probands in three publications (20673863: Malan et al. 2010; 22301465: Yoneda et al. 2012; 29897170: Priolo et al. 2018). Variants included five missense, two frameshift, and one stop-gained. Seven occurred de novo; one missense variant was inherited from a parent who may have had a very mild phenotype. The majority of missense variants occur in the DNA binding and dimerization domain. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached.  This gene-disease relationship is supported by expression studies, a mouse model, and in vitro functional assays (20673863: Malan et al. 2010; 17353270: Driller et al. 2007). Haploinsufficiency has been proposed as the mechanism of disease. In summary, NFIX is definitively associated with autosomal dominant Malan syndrome. Of note, this gene has also been implicated in Marshall-Smith syndrome. This relationship has been assessed separately."	"20673863, 22301465, 29897170, 17353270"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100127"	"2020-10-15"
"GENCC_000105-HGNC_7788-MONDO_0011244-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"MONDO:0011244"	"Marshall-Smith syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-11 00:00:00"	""	"The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a transcription factor that binds a palindromic sequence in cellular and viral promoters, promotes adenovirus replication, and has been implicated in brain and skeletal development. The NFIX gene was first reported in relation to autosomal dominant Marshall-Smith syndrome in 2010 (20673863: Malan et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in two publications (20673863: Malan et al. 2010; 24924640: Schanze et al. 2014). All were heterozygous de novo predicted null variants, which clustered in exons 6-10. Evidence that a protein product is synthesized and escapes nonsense-mediated decay was available for two variants. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease association is supported by expression studies, a mouse model, and in vitro functional assays (20673863: Malan et al. 2010; 17353270: Driller et al. 2007). The mechanism of disease has been proposed to involve a dominant-negative mechanism. In summary, NFIX is definitively associated with autosomal dominant Marshall-Smith syndrome.  Of note, this gene has also been implicated in Malan syndrome and this association has been assessed separately.
Lumping and Splitting: According to the criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in phenotypic variability and disease mechanism. Based on review of a large number of patients, Priolo et al. (2018) (PMID 29897170) conclude that Malan syndrome and Marshall-Smith syndrome should be considered separate disease entities, with important differences for clinical care. However, they note that future data may still provide further evidence for a disease spectrum. The syndromes differ in that Malan results in tall stature while Marshall-Smith results in short stature, with some additional more minor defining features. Some other features do overlap. Rarely, both syndromes may be considered as potentially diagnostic in a single patient. Malan syndrome has been proposed to result from NFIX haploinsufficiency, whereas Marshall-Smith syndrome has been proposed to result through a dominant-negative mechanism. Genotype-phenotype correlations have been proposed. Marshall-Smith variants tend to be scattered throughout exons 6–10 of the NFIX gene, while most point mutations causing Malan syndrome are clustered in exon 2. However, careful functional studies of reported variants are needed to confirm these associations. For these reasons, we have split curations for the disease entities Marshall-Smith syndrome and Malan syndrome."	"20673863, 24924640, 17353270"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100128"	"2020-10-15"
"GENCC_000105-HGNC_48-MONDO_0010524-HP_0001417-GENCC_100003"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"Sideroblastic Anemia and Ataxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2018-05-07 00:00:00"	""	""	"10196363, 11050011, 11843825, 22398176, 26242992, 16467350, 17192398, 19046159"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100129"	"2020-10-15"
"GENCC_000105-HGNC_3571-MONDO_0019181-HP_0001417-GENCC_100003"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"Non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-06-17 00:00:00"	""	""	"19166906, 21267006, 25644381, 11889465, 12525535, 26350204, 19617635"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100130"	"2020-10-15"
"GENCC_000105-HGNC_24124-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:24124"	"ACTL6A"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24124"	"ACTL6A"	"MONDO:0001071"	"ACTL6A-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2018-07-11 00:00:00"	""	""	"28649782"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100131"	"2020-10-15"
"GENCC_000105-HGNC_218-MONDO_0009161-HP_0000007-GENCC_100001"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome dermatospraxis type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-02-05 00:00:00"	""	""	"10417273, 26765342"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100172"	"2022-10-27"
"GENCC_000105-HGNC_25230-MONDO_0014358-HP_0000006-GENCC_100002"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-01-08 00:00:00"	""	""	" 24791903, 27148574, 26350515, 29230160, 26597493"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100133"	"2020-10-15"
"GENCC_000105-HGNC_20609-MONDO_0054817-HP_0000007-GENCC_100001"	"HGNC:20609"	"AIMP2"	"MONDO:0054817"	"leukodystrophy, hypomyelinating, 17"	"MONDO:0054817"	"leukodystrophy, hypomyelinating, 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:20609"	"AIMP2"	"MONDO:0054817"	"Hypomyelinating leukodystrophy 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-05-17 00:00:00"	""	""	"29215095, 26795593, 29022589"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100177"	"2022-10-27"
"GENCC_000105-HGNC_21316-MONDO_0007846-HP_0000006-GENCC_100001"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"MONDO:0007846"	"KBG syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG Syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-08-29 00:00:00"	""	""	"21782149, 27605097, 27667800, 25125236"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100136"	"2020-10-15"
"GENCC_000105-HGNC_559-MONDO_0012251-HP_0000007-GENCC_100002"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"MONDO:0012251"	"MEDNIK syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2017-02-02 00:00:00"	""	""	"24754424, 23423674, 19057675, 15668823,  30244301, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100137"	"2020-10-15"
"GENCC_000105-HGNC_30207-MONDO_0016034-HP_0000006-GENCC_100001"	"HGNC:30207"	"ARHGAP29"	"MONDO:0016034"	"cleft lip with or without cleft palate"	"MONDO:0016034"	"cleft lip with or without cleft palate"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30207"	"ARHGAP29"	"MONDO:0016034"	"Nonsyndromic cleft lip +/- cleft palate"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-06-12 00:00:00"	""	""	"23008150, 25963656, 27350171, 28849001, 28817352,  25704602"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100138"	"2020-10-15"
"GENCC_000105-HGNC_685-MONDO_0019181-HP_0001417-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"Non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2017-01-16 00:00:00"	""	""	"11017088, 19377476"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100139"	"2020-10-15"
"GENCC_000105-HGNC_18040-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-09-13 00:00:00"	""	""	"25674384, 23906836, 22426308,  22426309,  23929686"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100140"	"2020-10-15"
"GENCC_000105-HGNC_714-MONDO_0009661-HP_0000007-GENCC_100001"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"Mucopolysaccharidosis, Type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-03-13 00:00:00"	""	""	"1550123,  15324318, 1718978, 14974081, 8116615,  8651289,  11668612, 10036316, 17643332, 17458871,  8723688"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100141"	"2020-10-15"
"GENCC_000105-HGNC_24268-MONDO_0014807-HP_0000007-GENCC_100001"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"Spinal muscular atrophy with congenital bone fractures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-05-09 00:00:00"	""	""	"26924529, 30327447, 32160656, 28218388, 34204919, "	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100181"	"2022-10-27"
"GENCC_000105-HGNC_18318-MONDO_0011510-HP_0000006-GENCC_100001"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-05-22 00:00:00"	""	""	"21706002, 22419483,  2421814, 27043953, 27237378, 26364555"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100143"	"2020-10-15"
"GENCC_000105-HGNC_23805-MONDO_0014963-HP_0000006-GENCC_100003"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena syndrome"	"MONDO:0014963"	"Shashi-Pena syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena Syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-06 00:00:00"	""	""	"27693232, 1927074, 26051940"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100144"	"2020-10-15"
"GENCC_000105-HGNC_29357-MONDO_0014205-HP_0000006-GENCC_100001"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-23 00:00:00"	""	""	" 23383720,  26647312,  28100473, 27901041, 28362156"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100145"	"2020-10-15"
"GENCC_000105-HGNC_812-MONDO_0007417-HP_0000006-GENCC_100001"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"MONDO:0007417"	"Darier disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier Disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-08 00:00:00"	""	""	" 10080178,  10441325,  12072062,  24336169, 10970890, 11389134,  11387203, 10441324,  12542527,  20518781"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100146"	"2020-10-15"
"GENCC_000105-HGNC_1044-MONDO_0010515-HP_0001417-GENCC_100004"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"MONDO:0010515"	"Meester-Loeys syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2018-06-06 00:00:00"	""	""	"27632686, 22834985, 9731537"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100147"	"2020-10-15"
"GENCC_000105-HGNC_26938-MONDO_0044642-HP_0000007-GENCC_100003"	"HGNC:26938"	"HIKESHI"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26938"	"HIKESHI"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-11-10 00:00:00"	""	""	" 26545878, 22541429, 25760597, 28000699, 28980748, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100148"	"2020-10-15"
"GENCC_000105-HGNC_1346-MONDO_0012412-HP_0000007-GENCC_100002"	"HGNC:1346"	"C7"	"MONDO:0012412"	"complement component 7 deficiency"	"MONDO:0012412"	"complement component 7 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1346"	"C7"	"MONDO:0012412"	"C7 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-04-25 00:00:00"	""	""	"6714987, 1347491, 8892662, 16771861, 17407100, 8871666,  9218625,  15554930, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100149"	"2020-10-15"
"GENCC_000105-HGNC_1514-MONDO_0011013-HP_0000006-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"Hypocalcemia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-08-28 00:00:00"	""	""	"27647839, 15347804, 8733126, 9253358, 12915654, 10770217, 12050233,  9920108, 8813042, 12574188,  10487661,  8132750"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100150"	"2020-10-15"
"GENCC_000105-HGNC_1850-MONDO_0020705-HP_0000006-GENCC_100003"	"HGNC:1850"	"CELSR1"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1850"	"CELSR1"	"MONDO:0020705"	"Neural tube defects, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-04-25 00:00:00"	""	""	"22095531, 22371354, 22632972, 24632739, 25128525, 27756857, 12842012, 22371354, 20223754"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100151"	"2020-10-15"
"GENCC_000105-HGNC_1856-MONDO_0014473-HP_0000007-GENCC_100004"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"Primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-18 00:00:00"	""	""	" 24748105, 12361599, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100152"	"2020-10-15"
"GENCC_000105-HGNC_1857-MONDO_0009477-HP_0000007-GENCC_100002"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"MONDO:0009477"	"Stromme syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-07-11 00:00:00"	""	""	"28407396,  25564561,  26820108,  25564561, 7542657"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100153"	"2020-10-15"
"GENCC_000105-HGNC_1940-MONDO_0010557-HP_0001417-GENCC_100001"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"MONDO:0010557"	"choroideremia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia "	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-06-27 00:00:00"	""	""	"17698759, 2220804, 1598901, 12827496, 9067750, 14983050, 16410831, 19741243,  8477262, 8242078, 1302003, 7981670, 21905166,  24913019"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100154"	"2020-10-15"
"GENCC_000105-HGNC_1966-MONDO_0018940-HP_0000007-GENCC_100001"	"HGNC:1966"	"CHRNE"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1966"	"CHRNE"	"MONDO:0018940"	"congenital myasthenic  syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-01-19 00:00:00"	""	""	"7531341, 8957026, 11030414, 12417530, 17853947, 8232384, 12141316, 10211467, 19064877, 10962020, 21150643, 21175599, 22592360, 7538206, 8755487, 22678886, , 25264167"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100155"	"2020-10-15"
"GENCC_000105-HGNC_2092-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"Intellectual disability, dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-08-22 00:00:00"	""	""	"29100083, 26795593, 27479843, 26822784"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100156"	"2020-10-15"
"GENCC_000105-HGNC_2174-MONDO_0005258-HP_0000006-GENCC_100005"	"HGNC:2174"	"CNTN4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2174"	"CNTN4"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed evidence"	"2020-02-20 00:00:00"	""	""	"15106122, 18349135, 21308999, 22750301, 23872404, 26958094, 31422286, 29970989, 28064060, 19404257"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100157"	"2020-10-15"
"GENCC_000105-HGNC_13830-MONDO_0012400-HP_0000007-GENCC_100001"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"Cortical dysplasia-focal epilepsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-06 00:00:00"	""	""	"17646849, 21962519, 25852443, 23714751, 26843181, 28588433, 16571880, 19896112,  27439707"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100158"	"2020-10-15"
"GENCC_000105-HGNC_2200-MONDO_0007160-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"MONDO:0007160"	"Stickler syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-12-07 00:00:00"	""	""	"16752401, 12544472, 20179744, 8723097, 12968670, 16752401, 25060605, 28095098"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100159"	"2020-10-15"
"GENCC_000105-HGNC_2219-MONDO_0010964-HP_0000006-GENCC_100003"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2018-04-10 00:00:00"	""	""	"24273071, 26437029, 10655510, 15551337 "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100160"	"2020-10-15"
"GENCC_000105-HGNC_2227-MONDO_0008322-HP_0000006-GENCC_100001"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"MONDO:0008322"	"pseudoachondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-03-06 00:00:00"	""	""	"3314506, 9188668, 7670471, 7670472, 9632164, 9887340, 21922596, 22006726, 6987200, 19808781, 12189245, 10753957"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100161"	"2020-10-15"
"GENCC_000105-HGNC_16812-MONDO_0018151-HP_0000007-GENCC_100001"	"HGNC:16812"	"COQ8A"	"MONDO:0018151"	"coenzyme Q10 deficiency"	"MONDO:0018151"	"coenzyme Q10 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:16812"	"COQ8A"	"MONDO:0018151"	"Coenzyme Q10 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-09-21 00:00:00"	""	""	"18319072, 18319074, 29159460, 27499294, 32337771"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100162"	"2020-10-15"
"GENCC_000105-HGNC_2312-MONDO_0008910-HP_0000007-GENCC_100004"	"HGNC:2312"	"CPN1"	"MONDO:0008910"	"carboxypeptidase N deficiency"	"MONDO:0008910"	"carboxypeptidase N deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2312"	"CPN1"	"MONDO:0008910"	"Carboxypeptidase N deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2017-06-07 00:00:00"	""	""	"19414808, 12560874"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100163"	"2020-10-15"
"GENCC_000105-HGNC_2348-MONDO_0019188-HP_0000006-GENCC_100001"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	" Rubinstein-Taybi syndrome (RSTS)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-09 00:00:00"	""	""	"27311832, 27165009, 26788536, 18792986, 9949198"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100164"	"2020-10-15"
"GENCC_000105-HGNC_2701-MONDO_0008002-HP_0000006-GENCC_100001"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"mirror movements 1"	"MONDO:0008002"	"mirror movements 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"Mirror Movements 1 and/or agenesis of the corpus callosum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-09-05 00:00:00"	""	""	"19720981, 20431009, 21242494, 24808016, 28250454, 28341853, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100165"	"2020-10-15"
"GENCC_000105-HGNC_18423-MONDO_0024556-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"Familial focal epilepsy with variable foci "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-11-10 00:00:00"	""	""	"23542697, 23542701, 26216793, 24283814, 27626380, 24585383"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100166"	"2020-10-15"
"GENCC_000106-HGNC_10001-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:10001"	"RGS5"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"OMIM:145500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10001"	"RGS5"	"OMIM:145500"	"[Blood pressure regulation QTL] 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-31 20:04:32"	""	""	"17236131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RGS50BloodPr02"	"2020-12-04"
"GENCC_000106-HGNC_10006-OMIM_185000-HP_0000006-GENCC_100002"	"HGNC:10006"	"RHAG"	"MONDO:0008493"	"overhydrated hereditary stomatocytosis"	"OMIM:185000"	"OMIM:185000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10006"	"RHAG"	"OMIM:185000"	"overhydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:34"	""	""	"18931342, 21849667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHAG0Overhydr"	"2023-11-30"
"GENCC_000106-HGNC_10069-OMIM_133239-HP_0000005-GENCC_100008"	"HGNC:10069"	"RNF6"	"MONDO:0007576"	"esophageal cancer"	"OMIM:133239"	"OMIM:133239"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10069"	"RNF6"	"OMIM:133239"	"Esophageal carcinoma, somatic 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-20 20:04:32"	""	""	"28687971, 29374067, 12154016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/3"	"RNF60Esophage04"	"2020-12-04"
"GENCC_000106-HGNC_10618-OMIM_182940-HP_0000006-GENCC_100008"	"HGNC:10618"	"CCL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"OMIM:182940"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10618"	"CCL2"	"OMIM:182940"	"{Spina bifida, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-02 20:04:32"	""	""	"16596675"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/4"	"CCL20SpinaBi"	"2020-12-04"
"GENCC_000106-HGNC_10719-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10719"	"SELENBP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10719"	"SELENBP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-25 20:04:32"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/5"	"SELENBP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10854-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10854"	"SHOX2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10854"	"SHOX2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-20 20:04:33"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/7"	"SHOX20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10911-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10911"	"SLC12A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10911"	"SLC12A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-03 20:04:33"	""	""	"26955005, 26955005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/8"	"SLC12A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10935-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10935"	"SLC18A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10935"	"SLC18A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-06 20:04:33"	""	""	"23911319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/10"	"SLC18A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10993-OMIM_167030-HP_0000007-GENCC_100004"	"HGNC:10993"	"SLC26A1"	"MONDO:0020722"	"nephrolithiasis susceptibility caused by SLC26A1"	"OMIM:167030"	"OMIM:167030"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10993"	"SLC26A1"	"OMIM:167030"	"nephrolithiasis susceptibility caused by SLC26A1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 14:12:57"	""	""	"24250268, 27210743"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A10?Nephrol"	"2023-11-30"
"GENCC_000106-HGNC_11034-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:11034"	"SLC4A8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11034"	"SLC4A8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-11-14 20:04:33"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/12"	"SLC4A80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11097-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:11097"	"SMARCA1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11097"	"SMARCA1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:54"	""	""	"27001614"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCA10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_11153-OMIM_117650-HP_0000006-GENCC_100002"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"OMIM:117650"	"OMIM:117650"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11153"	"SNRPB"	"OMIM:117650"	"cerebrocostomandibular syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:38"	""	""	"166488, 2447952, 25047197, 25504470, 26971886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNRPB0Cerebroc"	"2023-11-30"
"GENCC_000106-HGNC_11244-OMIM_167800-HP_0000005-GENCC_100008"	"HGNC:11244"	"SPINK1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"OMIM:167800"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11244"	"SPINK1"	"OMIM:167800"	"Hereditary pancreatitis"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-07-17 20:04:34"	""	""	"30420730, 30420730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/16"	"SPINK10Pancreatitis02"	"2020-12-04"
"GENCC_000106-HGNC_11270-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:11270"	"SPRY2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11270"	"SPRY2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-07 18:19:41"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRY20Tourette"	"2023-11-30"
"GENCC_000106-HGNC_11272-OMIM_130600-HP_0000006-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0007533"	"elliptocytosis 2"	"OMIM:130600"	"OMIM:130600"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11272"	"SPTA1"	"OMIM:130600"	"elliptocytosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-04 00:01:03"	""	""	"1679439, 18218854, 2328319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTA10Elliptoc"	"2023-11-30"
"GENCC_000106-HGNC_11283-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:11283"	"SRC"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"OMIM:114500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11283"	"SRC"	"OMIM:114500"	"Colon cancer, advanced, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-19 20:04:34"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/19"	"SRC0ColonCan"	"2020-12-04"
"GENCC_000106-HGNC_11498-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11498"	"SYNGR1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11498"	"SYNGR1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:35"	""	""	"17049558, 16215643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/20"	"SYNGR10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11542-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11542"	"TAF9"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11542"	"TAF9"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-27 20:04:35"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/21"	"TAF90Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11595-OMIM_143400-HP_0000005-GENCC_100004"	"HGNC:11595"	"TBX18"	"MONDO:0027676"	"congenital anomalies of kidney and urinary tract 2"	"OMIM:143400"	"OMIM:143400"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11595"	"TBX18"	"OMIM:143400"	"congenital anomalies of kidney and urinary tract 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"16511601, 222810, 248118, 250978, 26235987, 28566479, 29904178, 30143558, 30578417, 34059960, 34853893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX180Congenit02"	"2023-11-30"
"GENCC_000106-HGNC_11603-OMIM_147891-HP_0000006-GENCC_100002"	"HGNC:11603"	"TBX4"	"MONDO:0007841"	"coxopodopatellar syndrome"	"OMIM:147891"	"OMIM:147891"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11603"	"TBX4"	"OMIM:147891"	"coxopodopatellar syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-30 15:03:28"	""	""	"15106123, 23592887, 29650961, 31151956, 32079640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX40TBX4rel"	"2023-11-30"
"GENCC_000106-HGNC_11608-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11608"	"TBXA2R"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11608"	"TBXA2R"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-19 20:04:35"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/24"	"TBXA2R0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11621-OMIM_144700-HP_0000005-GENCC_100008"	"HGNC:11621"	"HNF1A"	"MONDO:0007763"	"nonpapillary renal cell carcinoma"	"OMIM:144700"	"OMIM:144700"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11621"	"HNF1A"	"OMIM:144700"	"Renal cell carcinoma"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-21 20:04:35"	""	""	"15649945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/25"	"HNF1A0RenalCel"	"2020-12-04"
"GENCC_000106-HGNC_11743-OMIM_169100-HP_0000006-GENCC_100002"	"HGNC:11743"	"TFAP2B"	"MONDO:0008209"	"Char syndrome"	"OMIM:169100"	"OMIM:169100"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11743"	"TFAP2B"	"OMIM:169100"	"Char syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"10802654, 15684060, 21643846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFAP2B0CharSynd"	"2023-11-30"
"GENCC_000106-HGNC_11764-OMIM_274700-HP_0000007-GENCC_100002"	"HGNC:11764"	"TG"	"MONDO:0010135"	"thyroid dyshormonogenesis 3"	"OMIM:274700"	"OMIM:274700"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11764"	"TG"	"OMIM:274700"	"thyroid dyshormonogenesis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"12915634, 16720658, 19837936, 23164529, 250556, 251032, 251482, 282464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TG0ThyroidD"	"2023-11-30"
"GENCC_000106-HGNC_11787-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:11787"	"THBS3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11787"	"THBS3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-16 20:04:35"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/28"	"THBS30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_11799-OMIM_188570-HP_0000006-GENCC_100002"	"HGNC:11799"	"THRB"	"MONDO:0008569"	"thyroid hormone resistance, generalized, autosomal dominant"	"OMIM:188570"	"OMIM:188570"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11799"	"THRB"	"OMIM:188570"	"thyroid hormone resistance, generalized, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 18:20:36"	""	""	"15860414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THRB0ThyroidH"	"2023-11-30"
"GENCC_000106-HGNC_12000-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12000"	"TP53BP2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12000"	"TP53BP2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-26 20:04:35"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/32"	"TP53BP20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_123-OMIM_200950-HP_0000005-GENCC_100008"	"HGNC:123"	"ACP2"	"MONDO:0008705"	"lysosomal acid phosphatase deficiency"	"OMIM:200950"	"OMIM:200950"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:123"	"ACP2"	"OMIM:200950"	"?Lysosomal acid phosphatase deficiency"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:35"	""	""	"29422769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/33"	"ACP20Lysosom"	"2020-12-04"
"GENCC_000106-HGNC_12461-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12461"	"UBAP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12461"	"UBAP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-15 20:04:35"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/34"	"UBAP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12463-OMIM_119540-HP_0000006-GENCC_100008"	"HGNC:12463"	"UBB"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12463"	"UBB"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-24 20:04:36"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/35"	"UBB0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_1249-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:1249"	"TPX2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1249"	"TPX2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-19 20:04:36"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/36"	"TPX20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12607-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12607"	"USP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12607"	"USP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-20 20:04:36"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/38"	"USP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12635-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:12635"	"UTRN"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12635"	"UTRN"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-13 20:04:36"	""	""	"23163995, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/39"	"UTRN0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_12787-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12787"	"WNT7B"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12787"	"WNT7B"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-31 20:04:36"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/40"	"WNT7B0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12892-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12892"	"ZNF112"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12892"	"ZNF112"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:37"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/41"	"ZNF1120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13007-OMIM_130650-HP_0000005-GENCC_100008"	"HGNC:13007"	"ZNF215"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"OMIM:130650"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13007"	"ZNF215"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-03 20:04:37"	""	""	"10762538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/43"	"ZNF2150Beckwith"	"2020-12-04"
"GENCC_000106-HGNC_13022-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:13022"	"ZNF229"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13022"	"ZNF229"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-17 20:04:37"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/44"	"ZNF2290Schizop"	"2020-12-04"
"GENCC_000106-HGNC_13023-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13023"	"ZNF23"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13023"	"ZNF23"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:37"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/45"	"ZNF230Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13102-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13102"	"ZNF37A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13102"	"ZNF37A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-09 20:04:37"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/46"	"ZNF37A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13211-OMIM_169600-HP_0000006-GENCC_100002"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"OMIM:169600"	"OMIM:169600"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13211"	"ATP2C1"	"OMIM:169600"	"Hailey-Hailey disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:58"	""	""	"10615129, 10767338, 11841554"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2C10Hailey-H"	"2023-11-30"
"GENCC_000106-HGNC_13247-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:13247"	"FAM120A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13247"	"FAM120A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-01 20:04:37"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/48"	"FAM120A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1334-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:1334"	"FAXDC2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1334"	"FAXDC2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-22 20:04:37"	""	""	"25420024, 27689744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/49"	"FAXDC20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1349-OMIM_159550-HP_0000006-GENCC_100002"	"HGNC:1349"	"SAMD9L"	"MONDO:0008038"	"ataxia-pancytopenia syndrome"	"OMIM:159550"	"OMIM:159550"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1349"	"SAMD9L"	"OMIM:159550"	"ataxia-pancytopenia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-16 21:38:59"	""	""	"19358830, 27259050, 28202457, 32808377, 36553623"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD9L0ATXPC"	"2023-11-30"
"GENCC_000106-HGNC_13617-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13617"	"FBXO15"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13617"	"FBXO15"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-15 20:04:37"	""	""	"28135719, 28472652, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/51"	"FBXO150Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13629-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:13629"	"PABPC5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13629"	"PABPC5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-07-22 20:04:37"	""	""	"23894120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/52"	"PABPC50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1371-OMIM_143860-HP_0000007-GENCC_100002"	"HGNC:1371"	"CA12"	"MONDO:0007747"	"isolated hyperchlorhidrosis"	"OMIM:143860"	"OMIM:143860"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1371"	"CA12"	"OMIM:143860"	"isolated hyperchlorhidrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:45"	""	""	"21035102, 21184099, 26486891, 26911677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA120Hyperchl"	"2023-11-30"
"GENCC_000106-HGNC_13764-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:13764"	"RELT"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13764"	"RELT"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-21 20:04:38"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/54"	"RELT0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_13815-OMIM_115300-HP_0000005-GENCC_100004"	"HGNC:13815"	"BCO1"	"MONDO:0007272"	"hereditary hypercarotenemia and vitamin A deficiency"	"OMIM:115300"	"OMIM:115300"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13815"	"BCO1"	"OMIM:115300"	"hereditary hypercarotenemia and vitamin A deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-02 13:49:10"	""	""	"17951468, 27980096"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCO10Hypercar"	"2023-11-30"
"GENCC_000106-HGNC_14068-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14068"	"HDAC5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14068"	"HDAC5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-14 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/56"	"HDAC50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14184-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14184"	"UNKL"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14184"	"UNKL"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-22 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/57"	"UNKL0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14373-OMIM_138000-HP_0000006-GENCC_100002"	"HGNC:14373"	"GLMN"	"MONDO:0007672"	"glomuvenous malformation"	"OMIM:138000"	"OMIM:138000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14373"	"GLMN"	"OMIM:138000"	"glomuvenous malformation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11845407, 23801931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLMN0Glomuven"	"2023-11-30"
"GENCC_000106-HGNC_1440-OMIM_166710-HP_0000005-GENCC_100008"	"HGNC:1440"	"CALCR"	"MONDO:0005298"	"osteoporosis"	"OMIM:166710"	"OMIM:166710"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1440"	"CALCR"	"OMIM:166710"	"{Osteoporosis, postmenopausal, susceptibility}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-21 20:04:38"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/59"	"CALCR0Osteopo02"	"2020-12-04"
"GENCC_000106-HGNC_145-OMIM_155310-HP_0000006-GENCC_100002"	"HGNC:145"	"ACTG2"	"MONDO:0020754"	"visceral myopathy 1"	"OMIM:155310"	"OMIM:155310"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:145"	"ACTG2"	"OMIM:155310"	"visceral myopathy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:28:37"	""	""	" , 24777424, 24901346, 25782675, 26813947, 28383543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTG20Visceral"	"2023-11-30"
"GENCC_000106-HGNC_14638-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:14638"	"ABCA13"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14638"	"ABCA13"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-06 11:57:48"	""	""	"19944402, 23910238, 27712136, 29486958, 48999322, 49435281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA130{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_14718-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14718"	"OR9I1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14718"	"OR9I1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-22 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/62"	"OR9I10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14735-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14735"	"OR4M1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14735"	"OR4M1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/63"	"OR4M10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15447-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:15447"	"TLN2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15447"	"TLN2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-01-11 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/64"	"TLN20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15511-OMIM_182940-HP_0000005-GENCC_100004"	"HGNC:15511"	"VANGL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"OMIM:182940"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15511"	"VANGL2"	"OMIM:182940"	"neural tube defects, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-10-16 05:02:40"	""	""	"18296642, 20558380, 20738329, 30189017, 37815931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VANGL20NeuralTu"	"2023-11-30"
"GENCC_000106-HGNC_15590-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15590"	"ARHGEF15"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15590"	"ARHGEF15"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-03-08 20:04:38"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/66"	"ARHGEF150Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15708-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15708"	"PAQR8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15708"	"PAQR8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:39"	""	""	"24463507, 24463507, 11676489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/67"	"PAQR80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15713-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15713"	"ANAPC5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15713"	"ANAPC5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-14 20:04:39"	""	""	"28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/68"	"ANAPC50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15770-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15770"	"ZP4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15770"	"ZP4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/71"	"ZP40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15772-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:15772"	"ARFGEF1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15772"	"ARFGEF1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-31 17:02:11"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARFGEF10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_15885-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:15885"	"SYNDIG1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15885"	"SYNDIG1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-19 20:04:40"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/73"	"SYNDIG10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15889-OMIM_173650-HP_0000007-GENCC_100002"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"OMIM:173650"	"OMIM:173650"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15889"	"FERMT1"	"OMIM:173650"	"Kindler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-27 07:27:04"	""	""	"12668616, 14962093, 16675959, 21936020, 29130490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FERMT10KindlerS"	"2023-11-30"
"GENCC_000106-HGNC_15962-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15962"	"CBX8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15962"	"CBX8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-13 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/75"	"CBX80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_16262-OMIM_120433-HP_0000006-GENCC_100002"	"HGNC:16262"	"YAP1"	"MONDO:0007355"	"uveal coloboma-cleft lip and palate-intellectual disability"	"OMIM:120433"	"OMIM:120433"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16262"	"YAP1"	"OMIM:120433"	"uveal coloboma-cleft lip and palate-intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 15:25:12"	""	""	"16354681, 24462371, 27267789, 28801591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YAP10Coloboma03"	"2023-11-30"
"GENCC_000106-HGNC_16697-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:16697"	"SORCS1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16697"	"SORCS1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/77"	"SORCS10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_16790-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:16790"	"COLGALT2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16790"	"COLGALT2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-17 20:04:40"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/78"	"COLGALT20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_16816-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:16816"	"CHD5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16816"	"CHD5"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-01 13:56:55"	""	""	"25420024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD50{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_17-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17"	"AADAC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17"	"AADAC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-05 20:04:41"	""	""	"30886340, 20427753, 29253601, 20427753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/80"	"AADAC0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17023-OMIM_144700-HP_0000005-GENCC_100008"	"HGNC:17023"	"RNF139"	"MONDO:0007763"	"nonpapillary renal cell carcinoma"	"OMIM:144700"	"OMIM:144700"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17023"	"RNF139"	"OMIM:144700"	"Renal cell carcinoma 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-09 20:04:41"	""	""	"9689122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/81"	"RNF1390RenalCel05"	"2020-12-04"
"GENCC_000106-HGNC_17053-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17053"	"PLEKHA6"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17053"	"PLEKHA6"	"OMIM:181500"	"{Schizophrenia, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-26 20:04:41"	""	""	"24463507, 24576533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/82"	"PLEKHA60Schizop02"	"2020-12-04"
"GENCC_000106-HGNC_17129-OMIM_201100-HP_0000007-GENCC_100002"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"OMIM:201100"	"OMIM:201100"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17129"	"SLC39A4"	"OMIM:201100"	"acrodermatitis enteropathica"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"12955721, 20883266"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A40Acroderm"	"2023-11-30"
"GENCC_000106-HGNC_17362-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:17362"	"ARID5B"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17362"	"ARID5B"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-02 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/84"	"ARID5B0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_17366-OMIM_238700-HP_0000007-GENCC_100002"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"OMIM:238700"	"OMIM:238700"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17366"	"AASS"	"OMIM:238700"	"hyperlysinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23570448, 23890588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AASS0Hyperlys"	"2023-11-30"
"GENCC_000106-HGNC_17382-OMIM_188470-HP_0000006-GENCC_100008"	"HGNC:17382"	"SRGAP1"	"MONDO:0008566"	"thyroid cancer, nonmedullary, 2"	"OMIM:188470"	"OMIM:188470"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17382"	"SRGAP1"	"OMIM:188470"	"{Thyroid cancer, nonmedullary, 2}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-30 20:04:41"	""	""	"23539728, 23539728"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/86"	"SRGAP10Thyroid02"	"2020-12-04"
"GENCC_000106-HGNC_17521-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17521"	"ZNF385A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17521"	"ZNF385A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:41"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/87"	"ZNF385A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17643-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17643"	"GOPC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17643"	"GOPC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-23 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/88"	"GOPC0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17841-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:17841"	"MORN5"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17841"	"MORN5"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-22 20:04:41"	""	""	"27630576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/89"	"MORN50CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_17845-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17845"	"SULT1B1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17845"	"SULT1B1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-02-19 20:04:41"	""	""	"24463507, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/90"	"SULT1B10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_17937-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17937"	"CUZD1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17937"	"CUZD1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/91"	"CUZD10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_17992-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17992"	"TRPM3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17992"	"TRPM3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:42"	""	""	"24463508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/92"	"TRPM30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1802-OMIM_146520-HP_0000006-GENCC_100002"	"HGNC:1802"	"CDSN"	"MONDO:0007805"	"hypotrichosis 2"	"OMIM:146520"	"OMIM:146520"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1802"	"CDSN"	"OMIM:146520"	"hypotrichosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"12754508, 16307662, 20448140, 23746069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDSN0Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_18039-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18039"	"KDM5B"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18039"	"KDM5B"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-28 20:04:42"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/94"	"KDM5B0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18333-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18333"	"TIGD2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18333"	"TIGD2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-02 20:04:42"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/96"	"TIGD20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18398-OMIM_136000-HP_0000006-GENCC_100002"	"HGNC:18398"	"SMARCAD1"	"MONDO:0007619"	"isolated congenital adermatoglyphia"	"OMIM:136000"	"OMIM:136000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18398"	"SMARCAD1"	"OMIM:136000"	"isolated congenital adermatoglyphia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 07:26:21"	""	""	"21820097, 24664640, 24909267, 26932190, 29269196"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCAD10Adermato"	"2023-11-30"
"GENCC_000106-HGNC_18472-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:18472"	"ZDHHC5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18472"	"ZDHHC5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-07-18 20:04:42"	""	""	"29024729"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/98"	"ZDHHC50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_18533-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:18533"	"USP48"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18533"	"USP48"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-06 20:04:42"	""	""	"26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/99"	"USP480Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1869-OMIM_143470-HP_0000006-GENCC_100002"	"HGNC:1869"	"CETP"	"MONDO:0007744"	"cholesterol-ester transfer protein deficiency"	"OMIM:143470"	"OMIM:143470"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1869"	"CETP"	"OMIM:143470"	"cholesterol-ester transfer protein deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"1200546, 16855848, 28428219, 8906592, 9437190, 9508004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CETP0Hyperalp"	"2023-11-30"
"GENCC_000106-HGNC_18732-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18732"	"KLHL9"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18732"	"KLHL9"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-05 20:04:43"	""	""	"28191890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/101"	"KLHL90Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18762-OMIM_138500-HP_0000006-GENCC_100004"	"HGNC:18762"	"SLC36A2"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"OMIM:138500"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18762"	"SLC36A2"	"OMIM:138500"	"hyperglycinuria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 13:38:57"	""	""	"19033659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC36A20Hypergly02"	"2023-11-30"
"GENCC_000106-HGNC_1884-OMIM_167800-HP_0000006-GENCC_100004"	"HGNC:1884"	"CFTR"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"OMIM:167800"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1884"	"CFTR"	"OMIM:167800"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-04 12:17:40"	""	""	"1695717, 7691345, 9725922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFTR0Pancreatitis"	"2023-11-30"
"GENCC_000106-HGNC_1908-OMIM_200150-HP_0000007-GENCC_100002"	"HGNC:1908"	"VPS13A"	"MONDO:0008695"	"chorea-acanthocytosis"	"OMIM:200150"	"OMIM:200150"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1908"	"VPS13A"	"OMIM:200150"	"chorea-acanthocytosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:27:05"	""	""	"12404112, 21598378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS13A0Choreoac"	"2023-11-30"
"GENCC_000106-HGNC_19164-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19164"	"STARD13"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19164"	"STARD13"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:04:43"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/106"	"STARD130Schizop"	"2020-12-04"
"GENCC_000106-HGNC_19167-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19167"	"KIF17"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19167"	"KIF17"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-10 20:04:43"	""	""	"20646681, 21521616, 26421900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/107"	"KIF170Schizop"	"2020-12-04"
"GENCC_000106-HGNC_19214-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19214"	"SHKBP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19214"	"SHKBP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:43"	""	""	"28135719, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/108"	"SHKBP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1932-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:1932"	"CHI3L1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1932"	"CHI3L1"	"OMIM:181500"	"{Schizophrenia, susceptibility to} 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-12 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/109"	"CHI3L10Schizop06"	"2020-12-04"
"GENCC_000106-HGNC_19344-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:19344"	"DENND5A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19344"	"DENND5A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-24 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/110"	"DENND5A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1952-OMIM_100100-HP_0000007-GENCC_100002"	"HGNC:1952"	"CHRM3"	"MONDO:0007032"	"prune belly syndrome"	"OMIM:100100"	"OMIM:100100"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1952"	"CHRM3"	"OMIM:100100"	"prune belly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10944224, 22077972, 31441039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRM30?PruneBe"	"2023-11-30"
"GENCC_000106-HGNC_19916-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19916"	"KIF24"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19916"	"KIF24"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-03 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/112"	"KIF240Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20297-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:20297"	"SLITRK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20297"	"SLITRK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-19 20:04:43"	""	""	"27812321, 16224024, 19018236, 16224024, 27708560, 16224024, 18794888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/113"	"SLITRK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20323-OMIM_125400-HP_0000007-GENCC_100002"	"HGNC:20323"	"SMOC2"	"MONDO:0007436"	"dentin dysplasia type I"	"OMIM:125400"	"OMIM:125400"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20323"	"SMOC2"	"OMIM:125400"	"dentin dysplasia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:19:49"	""	""	"22152679, 23317772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMOC20DentinDy"	"2023-11-30"
"GENCC_000106-HGNC_20412-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:20412"	"KRT20"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20412"	"KRT20"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:04:44"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/115"	"KRT200Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20494-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:20494"	"FSCB"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20494"	"FSCB"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-05-25 20:04:44"	""	""	"20427753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/116"	"FSCB0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20611-OMIM_113750-HP_0000007-GENCC_100002"	"HGNC:20611"	"SLC24A5"	"MONDO:0018264"	"oculocutaneous albinism type 6"	"OMIM:113750"	"OMIM:113750"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20611"	"SLC24A5"	"OMIM:113750"	"oculocutaneous albinism type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"100404, 120233, 23364476, 23985994, 26686029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC24A50Albinism03"	"2023-11-30"
"GENCC_000106-HGNC_20670-OMIM_200110-HP_0000006-GENCC_100002"	"HGNC:20670"	"TWIST2"	"MONDO:0008693"	"ablepharon macrostomia syndrome"	"OMIM:200110"	"OMIM:200110"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20670"	"TWIST2"	"OMIM:200110"	"ablepharon macrostomia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 09:03:22"	""	""	"26119818"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST20Ablephar"	"2023-11-30"
"GENCC_000106-HGNC_20738-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:20738"	"SYVN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20738"	"SYVN1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-27 20:04:44"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/119"	"SYVN10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20788-OMIM_148500-HP_0000006-GENCC_100002"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"OMIM:148500"	"OMIM:148500"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20788"	"RHBDF2"	"OMIM:148500"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"2079979, 22265016, 8508402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHBDF20TylosisW"	"2023-11-30"
"GENCC_000106-HGNC_20821-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:20821"	"COL24A1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20821"	"COL24A1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-19 20:04:44"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/121"	"COL24A10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20886-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:20886"	"AGPAT5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20886"	"AGPAT5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-04-18 20:04:44"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/122"	"AGPAT50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_21086-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:21086"	"MIB1"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21086"	"MIB1"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-13 20:04:44"	""	""	"28767323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/123"	"MIB10CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_21285-OMIM_143870-HP_0000006-GENCC_100002"	"HGNC:21285"	"ADCY10"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"OMIM:143870"	"OMIM:143870"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21285"	"ADCY10"	"OMIM:143870"	"hypercalciuria, absorptive, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 14:50:09"	""	""	"11932268, 25296721, 26787776, 27627854, 31119281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY100{Hyperca"	"2023-11-30"
"GENCC_000106-HGNC_21288-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:21288"	"C6orf132"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21288"	"C6orf132"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-02 20:04:44"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/125"	"C6orf1320Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2171-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:2171"	"CNTN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2171"	"CNTN1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-11 20:04:45"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/126"	"CNTN10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_21735-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:21735"	"LHX6"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21735"	"LHX6"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-19 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/127"	"LHX60Schizop"	"2020-12-04"
"GENCC_000106-HGNC_21746-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:21746"	"CPEB3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21746"	"CPEB3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-23 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/128"	"CPEB30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2176-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:2176"	"CNTN6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2176"	"CNTN6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-05 20:04:45"	""	""	"28641109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/129"	"CNTN60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_222-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:222"	"ADAMTS6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:222"	"ADAMTS6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-08-20 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/130"	"ADAMTS60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_22209-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:22209"	"STRIP2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:22209"	"STRIP2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-08-12 20:04:45"	""	""	"28608572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/131"	"STRIP20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_22945-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:22945"	"NLRP11"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:22945"	"NLRP11"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-04 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/132"	"NLRP110Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2321-OMIM_121300-HP_0000006-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"OMIM:121300"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"hereditary coproporphyria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:03"	""	""	"1733615, 19460837, 8012360, 8990017, 9888388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPOX0Copropor"	"2023-11-30"
"GENCC_000106-HGNC_2321-OMIM_121300-HP_0000007-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"OMIM:121300"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"hereditary coproporphyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:03"	""	""	"16159891, 21103937, 24078084, 7757079, 9454777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPOX0Harderop"	"2023-11-30"
"GENCC_000106-HGNC_23505-OMIM_107600-HP_0000006-GENCC_100004"	"HGNC:23505"	"BMS1"	"MONDO:0007145"	"aplasia cutis congenita"	"OMIM:107600"	"OMIM:107600"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23505"	"BMS1"	"OMIM:107600"	"aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 11:44:03"	""	""	"23785305, 245022"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMS10?Aplasia"	"2023-11-30"
"GENCC_000106-HGNC_23594-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:23594"	"VPS13C"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23594"	"VPS13C"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-12 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/136"	"VPS13C0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24047-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:24047"	"ATL2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24047"	"ATL2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-26 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/137"	"ATL20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_24083-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24083"	"MAMDC4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24083"	"MAMDC4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-05 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/138"	"MAMDC40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24160-OMIM_117210-HP_0000006-GENCC_100002"	"HGNC:24160"	"BEAN1"	"MONDO:0007296"	"spinocerebellar ataxia type 31"	"OMIM:117210"	"OMIM:117210"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24160"	"BEAN1"	"OMIM:117210"	"spinocerebellar ataxia type 31"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:59"	""	""	"19878914, 22049201, 23607545, 28362824"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEAN10SCA"	"2023-11-30"
"GENCC_000106-HGNC_24224-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:24224"	"CDK12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24224"	"CDK12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-03 20:04:46"	""	""	"30333958, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/140"	"CDK120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2456-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:2456"	"CSNK1G3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2456"	"CSNK1G3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-08-22 20:04:46"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/141"	"CSNK1G30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_24713-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24713"	"QRICH1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24713"	"QRICH1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-11 20:04:46"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/142"	"QRICH10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24725-OMIM_127000-HP_0000006-GENCC_100002"	"HGNC:24725"	"FAM111A"	"MONDO:0007478"	"autosomal dominant Kenny-Caffey syndrome"	"OMIM:127000"	"OMIM:127000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24725"	"FAM111A"	"OMIM:127000"	"autosomal dominant Kenny-Caffey syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-12 09:17:52"	""	""	"23684011, 23996431, 24635597, 24970356, 26384470, 26489029, 28138333, 32765931, 32996714, 33010201, 33258288, 33263187, 35250876, 35591945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM111A0Kenny-Ca"	"2023-11-30"
"GENCC_000106-HGNC_24820-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24820"	"ENTREP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24820"	"FAM189A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:46"	""	""	"20602916, 25420024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/144"	"FAM189A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_25192-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25192"	"ARL8A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25192"	"ARL8A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-12 20:04:46"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/145"	"ARL8A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25369-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25369"	"POM121L12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25369"	"POM121L12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-12 20:04:46"	""	""	"2842652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/146"	"POM121L120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25539-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25539"	"RFWD3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25539"	"RFWD3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-29 20:04:46"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/147"	"RFWD30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25640-OMIM_142669-HP_0000006-GENCC_100004"	"HGNC:25640"	"UFSP2"	"MONDO:0007726"	"hip dysplasia, Beukes type"	"OMIM:142669"	"OMIM:142669"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25640"	"UFSP2"	"OMIM:142669"	"hip dysplasia, Beukes type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-10-31 10:06:45"	""	""	"26428751, 28892125, 32755715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UFSP20?HipDysp"	"2023-11-30"
"GENCC_000106-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100002"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"OMIM:148600"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"palmoplantar keratoderma, punctate type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:19:44"	""	""	"12609775, 23000146, 23064416, 23563198, 23633024, 24390136, 246194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AAGAB0Keratode"	"2023-11-30"
"GENCC_000106-HGNC_25732-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:25732"	"KLHL25"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25732"	"KLHL25"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-04-15 20:04:46"	""	""	"25363768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/150"	"KLHL250Schizop"	"2020-12-04"
"GENCC_000106-HGNC_25928-OMIM_251300-HP_0000007-GENCC_100002"	"HGNC:25928"	"WDR73"	"MONDO:0033005"	"Galloway-Mowat syndrome 1"	"OMIM:251300"	"OMIM:251300"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25928"	"WDR73"	"OMIM:251300"	"Galloway-Mowat syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-16 15:07:01"	""	""	"234962, 245506, 249012, 251300, 25466283, 25873735, 26123727, 27001912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR730Galloway"	"2023-11-30"
"GENCC_000106-HGNC_2594-OMIM_139300-HP_0000006-GENCC_100004"	"HGNC:2594"	"CYP19A1"	"MONDO:0007690"	"aromatase excess syndrome"	"OMIM:139300"	"OMIM:139300"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2594"	"CYP19A1"	"OMIM:139300"	"aromatase excess syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-22 14:47:30"	""	""	"12736278, 17584767, 21470988, 24064691, 24102311, 30530883, 33351351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP19A10Aromatas02"	"2023-11-30"
"GENCC_000106-HGNC_26057-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26057"	"NMRK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26057"	"NMRK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-28 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/153"	"NMRK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2610-OMIM_122700-HP_0000005-GENCC_100008"	"HGNC:2610"	"CYP2A6"	"MONDO:0007390"	"coumarin resistance"	"OMIM:122700"	"OMIM:122700"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2610"	"CYP2A6"	"OMIM:122700"	"Coumarin resistance"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-22 20:04:47"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/154"	"CYP2A60Coumarin"	"2020-12-04"
"GENCC_000106-HGNC_2610-OMIM_188890-HP_0000005-GENCC_100008"	"HGNC:2610"	"CYP2A6"	"MONDO:0008575"	"nicotine dependence"	"OMIM:188890"	"OMIM:188890"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2610"	"CYP2A6"	"OMIM:188890"	"{Nicotine addiction, protection from}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-22 20:04:47"	""	""	"18360915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/155"	"CYP2A60Nicotin02"	"2020-12-04"
"GENCC_000106-HGNC_26533-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26533"	"CCDC7"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26533"	"CCDC7"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-08 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/156"	"CCDC70Tourette"	"2020-12-04"
"GENCC_000106-HGNC_26539-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:26539"	"DCST1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26539"	"DCST1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:47"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/157"	"DCST10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_26541-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26541"	"GARIN4"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26541"	"FAM71A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-01 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/158"	"FAM71A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_26726-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:26726"	"ZNF565"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26726"	"ZNF565"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:47"	""	""	"21743468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/159"	"ZNF5650Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2701-OMIM_157600-HP_0000006-GENCC_100002"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"mirror movements 1"	"OMIM:157600"	"OMIM:157600"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:157600"	"mirror movements 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 16:47:02"	""	""	"21242494, 24808016, 25813273, 29366874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCC0MirrorMo02"	"2023-11-30"
"GENCC_000106-HGNC_2701-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:2701"	"DCC"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"OMIM:114500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:114500"	"Colorectal cancer, somatic 5"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:47"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/161"	"DCC0Colorect06"	"2020-12-04"
"GENCC_000106-HGNC_2701-OMIM_133239-HP_0000005-GENCC_100008"	"HGNC:2701"	"DCC"	"MONDO:0007576"	"esophageal cancer"	"OMIM:133239"	"OMIM:133239"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:133239"	"Esophageal carcinoma, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:47"	""	""	"25644941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/162"	"DCC0Esophage03"	"2020-12-04"
"GENCC_000106-HGNC_27364-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:27364"	"HEPACAM2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:27364"	"HEPACAM2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-02 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/163"	"HEPACAM20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28071-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28071"	"ZNF799"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28071"	"ZNF799"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-12 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/164"	"ZNF7990Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28510-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:28510"	"GLIS3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28510"	"GLIS3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-30 22:31:13"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLIS30Tourette"	"2023-11-30"
"GENCC_000106-HGNC_28605-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:28605"	"SNX31"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28605"	"SNX31"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-08 20:04:48"	""	""	"23911319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/166"	"SNX310Schizop"	"2020-12-04"
"GENCC_000106-HGNC_28611-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28611"	"RICTOR"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28611"	"RICTOR"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-09 20:04:48"	""	""	"28608572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/167"	"RICTOR0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28627-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:28627"	"TCP11L2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28627"	"TCP11L2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-15 20:04:48"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/168"	"TCP11L20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_28733-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28733"	"LCN12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28733"	"LCN12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-26 20:04:48"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/169"	"LCN120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28751-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28751"	"LYPD6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28751"	"LYPD6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-09 20:04:48"	""	""	"31055822, 22085900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/170"	"LYPD60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28867-OMIM_125853-HP_0000005-GENCC_100008"	"HGNC:28867"	"IGF2BP2"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"OMIM:125853"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28867"	"IGF2BP2"	"OMIM:125853"	"{Diabetes mellitus, noninsulin-dependent, susceptibility to} 5"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-07 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/171"	"IGF2BP20Diabete012"	"2020-12-04"
"GENCC_000106-HGNC_28954-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28954"	"PPWD1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28954"	"PPWD1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-07 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/172"	"PPWD10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28982-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:28982"	"HMGXB3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28982"	"HMGXB3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-16 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/173"	"HMGXB30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28993-OMIM_194380-HP_0000006-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"OMIM:194380"	"OMIM:194380"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28993"	"PIEZO1"	"OMIM:194380"	"dehydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-25 17:26:08"	""	""	"22529292, 23479567, 23487776, 23581886, 23695678, 23973043, 24314002, 28716860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIEZO10DehydratStom"	"2023-11-30"
"GENCC_000106-HGNC_29013-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29013"	"CLEC16A"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29013"	"CLEC16A"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-29 20:04:48"	""	""	"26987296, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/175"	"CLEC16A0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29044-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:29044"	"DENND4B"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29044"	"DENND4B"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-20 20:04:49"	""	""	"28600779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/176"	"DENND4B0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_29174-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29174"	"WASHC4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29174"	"WASHC4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-01 20:04:49"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/177"	"WASHC40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29223-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29223"	"ANKRD50"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29223"	"ANKRD50"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-31 20:04:49"	""	""	"29884787, 28135719, 28191890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/178"	"ANKRD500Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29284-OMIM_136630-HP_0000005-GENCC_100008"	"HGNC:29284"	"DIP2B"	"MONDO:0007634"	"intellectual disability, FRA12A type"	"OMIM:136630"	"OMIM:136630"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29284"	"DIP2B"	"OMIM:136630"	"Mental retardation, FRA12A type"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-17 20:04:49"	""	""	"17236128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/179"	"DIP2B0MentalRe026"	"2020-12-04"
"GENCC_000106-HGNC_29313-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29313"	"ZDBF2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29313"	"ZDBF2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-02 20:04:49"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/180"	"ZDBF20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29365-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29365"	"ZNF518B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29365"	"ZNF518B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/181"	"ZNF518B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2956-OMIM_152700-HP_0000005-GENCC_100008"	"HGNC:2956"	"DNASE1"	"MONDO:0007915"	"systemic lupus erythematosus"	"OMIM:152700"	"OMIM:152700"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2956"	"DNASE1"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-21 20:04:49"	""	""	"30758851, 11479590, 11479590, 15593183, 15593183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/182"	"DNASE10Systemi"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_133100-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0007572"	"primary familial polycythemia due to EPO receptor mutation"	"OMIM:133100"	"OMIM:133100"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:133100"	"Erythrocytosis, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:49"	""	""	"27651169, 27651169, 29703677, 27216218, 27237057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/183"	"SH2B30Erythroc02"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-12-06 20:04:49"	""	""	"26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/184"	"SH2B30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_187950-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0008554"	"thrombocythemia 1"	"OMIM:187950"	"OMIM:187950"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:187950"	"Thrombocythemia, somatic 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:49"	""	""	"24777453, 27216218, 27237057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/185"	"SH2B30Thromboc03"	"2020-12-04"
"GENCC_000106-HGNC_29917-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29917"	"MDM1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29917"	"MDM1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-29 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/186"	"MDM10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30052-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30052"	"NUP210"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30052"	"NUP210"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-07 20:04:49"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/187"	"NUP2100Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3014-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3014"	"DPYSL2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3014"	"DPYSL2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-19 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/188"	"DPYSL20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3026-OMIM_143465-HP_0000005-GENCC_100008"	"HGNC:3026"	"DRD5"	"MONDO:0007743"	"attention deficit-hyperactivity disorder"	"OMIM:143465"	"OMIM:143465"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3026"	"DRD5"	"OMIM:143465"	"{Attention deficit-hyperactivity disorder, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-07 20:04:50"	""	""	"27480019"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/189"	"DRD50Attenti03"	"2020-12-04"
"GENCC_000106-HGNC_30286-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30286"	"RUNDC3B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30286"	"RUNDC3B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-31 20:04:50"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/190"	"RUNDC3B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30298-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30298"	"UIMC1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30298"	"UIMC1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-16 20:04:50"	""	""	"28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/191"	"UIMC10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30375-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30375"	"CD163L1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30375"	"CD163L1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-17 20:04:50"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/192"	"CD163L10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3048-OMIM_148700-HP_0000006-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0007859"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"OMIM:148700"	"OMIM:148700"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3048"	"DSG1"	"OMIM:148700"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"19018793, 27534273, 34657339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG10Keratosi02"	"2023-11-30"
"GENCC_000106-HGNC_30494-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30494"	"USF3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30494"	"USF3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-14 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/194"	"USF30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3053-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3053"	"EPYC"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3053"	"EPYC"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/195"	"EPYC0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30691-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30691"	"KBTBD8"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30691"	"KBTBD8"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-05 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/196"	"KBTBD80Tourette"	"2020-12-04"
"GENCC_000106-HGNC_30860-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30860"	"LSM11"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30860"	"LSM11"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-20 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/197"	"LSM110Tourette"	"2020-12-04"
"GENCC_000106-HGNC_30927-OMIM_138500-HP_0000005-GENCC_100008"	"HGNC:30927"	"SLC6A20"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"OMIM:138500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30927"	"SLC6A20"	"OMIM:138500"	"Hyperglycinuria 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-14 20:04:50"	""	""	"19033659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/198"	"SLC6A200Hypergly03"	"2020-12-04"
"GENCC_000106-HGNC_30959-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30959"	"ZC3H7A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30959"	"ZC3H7A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-01 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/199"	"ZC3H7A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_31399-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:31399"	"SLC6A17"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:31399"	"SLC6A17"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-29 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/200"	"SLC6A170Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3146-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:3146"	"ECE1"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"OMIM:145500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3146"	"ECE1"	"OMIM:145500"	"{Hypertension, essential, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-16 20:04:51"	""	""	"12566389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/201"	"ECE10Hyperte09"	"2020-12-04"
"GENCC_000106-HGNC_31928-OMIM_139090-HP_0000007-GENCC_100002"	"HGNC:31928"	"NBEAL2"	"MONDO:0007686"	"gray platelet syndrome"	"OMIM:139090"	"OMIM:139090"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31928"	"NBEAL2"	"OMIM:139090"	"gray platelet syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:12:13"	""	""	"20709904, 21765411, 21765412, 23100277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBEAL20GrayPlat"	"2023-11-30"
"GENCC_000106-HGNC_32-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:32"	"ABCA2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:32"	"ABCA2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-09-14 20:04:51"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/203"	"ABCA20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_32934-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:32934"	"SLCO1B7"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:32934"	"SLCO1B7"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-13 20:04:51"	""	""	"24463507, 26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/204"	"SLCO1B70Schizop"	"2020-12-04"
"GENCC_000106-HGNC_33185-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:33185"	"DBX1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:33185"	"DBX1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-19 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/205"	"DBX10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_3337-OMIM_125630-HP_0000005-GENCC_100004"	"HGNC:3337"	"ADGRE2"	"MONDO:0007447"	"autosomal dominant vibratory urticaria"	"OMIM:125630"	"OMIM:125630"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3337"	"ADGRE2"	"OMIM:125630"	"autosomal dominant vibratory urticaria"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-31 12:47:39"	""	""	"26841242, 30445064, 32222457, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADGRE20Vibrator"	"2023-11-30"
"GENCC_000106-HGNC_336-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:336"	"AGTR1"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"OMIM:145500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:336"	"AGTR1"	"OMIM:145500"	"{Hypertension, essential}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-03-04 20:04:51"	""	""	"28973083, 28973083, 31858452, 28973083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/207"	"AGTR10Hyperte04"	"2020-12-04"
"GENCC_000106-HGNC_34005-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:34005"	"POM121C"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:34005"	"POM121C"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:51"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/208"	"POM121C0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3402-OMIM_143890-HP_0000006-GENCC_100008"	"HGNC:3402"	"EPHX2"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"OMIM:143890"	"OMIM:143890"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3402"	"EPHX2"	"OMIM:143890"	"{Hypercholesterolemia, familial, due to LDLR defect, modifier of}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-24 20:04:51"	""	""	"25363768, 29629376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/209"	"EPHX20Hyperch02"	"2020-12-04"
"GENCC_000106-HGNC_3488-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3488"	"ETS1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3488"	"ETS1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-03 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/210"	"ETS10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_35-OMIM_192605-HP_0000005-GENCC_100004"	"HGNC:35"	"ABCA5"	"MONDO:0008648"	"ventricular tachycardia, familial"	"OMIM:192605"	"OMIM:192605"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:35"	"ABCA5"	"OMIM:192605"	"ventricular tachycardia, familial"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-10 16:50:03"	""	""	"32939586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA50Ventricu03"	"2023-11-30"
"GENCC_000106-HGNC_3503-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3503"	"EVPL"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3503"	"EVPL"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-25 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/212"	"EVPL0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_3559-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3559"	"FABP4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3559"	"FABP4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-23 20:04:51"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/213"	"FABP40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3603-OMIM_182212-HP_0000005-GENCC_100004"	"HGNC:3603"	"FBN1"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"OMIM:182212"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-18 19:09:04"	""	""	"19293843, 8563763"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10ShprintzenGold"	"2023-11-30"
"GENCC_000106-HGNC_3618-OMIM_152700-HP_0000005-GENCC_100008"	"HGNC:3618"	"FCGR2B"	"MONDO:0007915"	"systemic lupus erythematosus"	"OMIM:152700"	"OMIM:152700"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3618"	"FCGR2B"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-07 20:04:52"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/215"	"FCGR2B0Systemi02"	"2020-12-04"
"GENCC_000106-HGNC_3683-OMIM_190330-HP_0000007-GENCC_100008"	"HGNC:3683"	"FGF5"	"MONDO:0008593"	"trichomegaly"	"OMIM:190330"	"OMIM:190330"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3683"	"FGF5"	"OMIM:190330"	"Trichomegaly"	"HP:0000007"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-06 20:04:52"	""	""	"24989505, 7923352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/216"	"FGF50Trichome"	"2020-12-04"
"GENCC_000106-HGNC_3706-OMIM_147480-HP_0000005-GENCC_100004"	"HGNC:3706"	"ATP8B1"	"MONDO:0007829"	"cholestasis, intrahepatic, of pregnancy, 1"	"OMIM:147480"	"OMIM:147480"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3706"	"ATP8B1"	"OMIM:147480"	"cholestasis, intrahepatic, of pregnancy, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"15657619, 15888793, 19731236, 28733223, 28924228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP8B10Cholesta03"	"2023-11-30"
"GENCC_000106-HGNC_3826-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3826"	"FPR1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3826"	"FPR1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-12-13 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/218"	"FPR10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4217-OMIM_187300-HP_0000006-GENCC_100002"	"HGNC:4217"	"GDF2"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"OMIM:187300"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4217"	"GDF2"	"OMIM:187300"	"telangiectasia, hereditary hemorrhagic, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:46:48"	""	""	"23972370, 27081547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF20HHT"	"2023-11-30"
"GENCC_000106-HGNC_4238-OMIM_187900-HP_0000006-GENCC_100002"	"HGNC:4238"	"GFI1B"	"MONDO:0008553"	"platelet-type bleeding disorder 17"	"OMIM:187900"	"OMIM:187900"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4238"	"GFI1B"	"OMIM:187900"	"platelet-type bleeding disorder 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-19 09:00:22"	""	""	"23927492, 24325358, 27479822, 33472357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFI1B0Bleeding03"	"2023-11-30"
"GENCC_000106-HGNC_4291-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:4291"	"GK2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4291"	"GK2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-04 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/221"	"GK20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4379-OMIM_145981-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0007792"	"familial hypocalciuric hypercalcemia 2"	"OMIM:145981"	"OMIM:145981"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4379"	"GNA11"	"OMIM:145981"	"familial hypocalciuric hypercalcemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:40:42"	""	""	"23802516, 26729423, 28194446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNA110Hypocalc02"	"2023-11-30"
"GENCC_000106-HGNC_4385-OMIM_192605-HP_0000005-GENCC_100008"	"HGNC:4385"	"GNAI2"	"MONDO:0008648"	"ventricular tachycardia, familial"	"OMIM:192605"	"OMIM:192605"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4385"	"GNAI2"	"OMIM:192605"	"Ventricular tachycardia, idiopathic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-05 20:04:52"	""	""	"9637720"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/223"	"GNAI20Ventricu03"	"2020-12-04"
"GENCC_000106-HGNC_4399-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:4399"	"RACK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4399"	"RACK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-01-04 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/224"	"RACK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4401-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:4401"	"GNB5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4401"	"GNB5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-21 20:04:52"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/225"	"GNB50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_4421-OMIM_146110-HP_0000007-GENCC_100002"	"HGNC:4421"	"GNRHR"	"MONDO:0007794"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"OMIM:146110"	"OMIM:146110"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4421"	"GNRHR"	"OMIM:146110"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-02 15:40:18"	""	""	"10084584, 11397871, 12050282, 16968799, 21209029, 22745237, 24002956, 247756, 250532, 25077900, 282190, 282638, 30947225, 9425890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNRHR0Hypogona06"	"2023-11-30"
"GENCC_000106-HGNC_4456-OMIM_125853-HP_0000006-GENCC_100008"	"HGNC:4456"	"GPD2"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"OMIM:125853"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4456"	"GPD2"	"OMIM:125853"	"{Diabetes, type 2, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-12-03 20:04:53"	""	""	"9070847, 11822825"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/227"	"GPD20Diabete08"	"2020-12-04"
"GENCC_000106-HGNC_4713-OMIM_130650-HP_0000006-GENCC_100002"	"HGNC:4713"	"H19"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"OMIM:130650"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4713"	"H19"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2020-05-28 20:04:53"	""	""	"24154661, 23118352, 20007505, 24154661, 21863054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/228"	"H190Beckwith"	"2020-12-04"
"GENCC_000106-HGNC_4847-OMIM_161400-HP_0000006-GENCC_100008"	"HGNC:4847"	"HCRT"	"MONDO:0008062"	"narcolepsy 1"	"OMIM:161400"	"OMIM:161400"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4847"	"HCRT"	"OMIM:161400"	"?Narcolepsy 1"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:53"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/229"	"HCRT0Narcole"	"2020-12-04"
"GENCC_000106-HGNC_4855-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:4855"	"HDC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4855"	"HDC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-21 08:49:39"	""	""	"20445167, 24411733, 27708560, 31589614, 31824749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDC0Tourette"	"2023-11-30"
"GENCC_000106-HGNC_494-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:494"	"ANK3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:494"	"ANK3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK30Tourette"	"2023-11-30"
"GENCC_000106-HGNC_5009-OMIM_150699-HP_0000005-GENCC_100008"	"HGNC:5009"	"HMGA2"	"MONDO:0007886"	"uterine corpus leiomyoma"	"OMIM:150699"	"OMIM:150699"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5009"	"HMGA2"	"OMIM:150699"	"Leiomyoma, uterine, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-05 20:04:53"	""	""	"19132395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/232"	"HMGA20Leiomyom"	"2020-12-04"
"GENCC_000106-HGNC_5010-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:5010"	"HMGA1"	"MONDO:0005148"	"type 2 diabetes mellitus"	"OMIM:125853"	"OMIM:125853"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5010"	"HMGA1"	"OMIM:125853"	"diabetes mellitus, noninsulin-dependent"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:37:12"	""	""	"15924147, 21364139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGA10{Diabete07"	"2023-11-30"
"GENCC_000106-HGNC_5030-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:5030"	"HNRNPA0"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5030"	"HNRNPA0"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-05 20:04:53"	""	""	"29738522, 25716654, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/234"	"HNRNPA00Tourette"	"2020-12-04"
"GENCC_000106-HGNC_5102-OMIM_140000-HP_0000006-GENCC_100002"	"HGNC:5102"	"HOXA13"	"MONDO:0007698"	"hand-foot-genital syndrome"	"OMIM:140000"	"OMIM:140000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5102"	"HOXA13"	"OMIM:140000"	"hand-foot-genital syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 15:07:42"	""	""	"10839976, 24934387, 29177010"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA130Hand-Foo"	"2023-11-30"
"GENCC_000106-HGNC_5133-OMIM_192950-HP_0000006-GENCC_100004"	"HGNC:5133"	"HOXD10"	"MONDO:0008652"	"congenital vertical talus"	"OMIM:192950"	"OMIM:192950"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5133"	"HOXD10"	"OMIM:192950"	"congenital vertical talus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-30 09:19:21"	""	""	"15146389, 16450407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXD100Charcot-"	"2023-11-30"
"GENCC_000106-HGNC_5244-OMIM_182170-HP_0000006-GENCC_100002"	"HGNC:5244"	"HSPA9"	"MONDO:0008422"	"autosomal dominant sideroblastic anemia"	"OMIM:182170"	"OMIM:182170"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5244"	"HSPA9"	"OMIM:182170"	"autosomal dominant sideroblastic anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"21123823, 26491070"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPA90ConSidAnem02"	"2023-11-30"
"GENCC_000106-HGNC_562-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:562"	"AP2A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:562"	"AP2A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-07-23 20:04:54"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/239"	"AP2A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_5992-OMIM_137215-HP_0000005-GENCC_100008"	"HGNC:5992"	"IL1B"	"MONDO:0007648"	"hereditary diffuse gastric adenocarcinoma"	"OMIM:137215"	"OMIM:137215"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5992"	"IL1B"	"OMIM:137215"	"{Gastric cancer risk after H. pylori infection}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-31 20:04:54"	""	""	"28195569, 29924831, 28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/240"	"IL1B0Gastric"	"2020-12-04"
"GENCC_000106-HGNC_6015-OMIM_147050-HP_0000005-GENCC_100008"	"HGNC:6015"	"IL4R"	"MONDO:0007817"	"IgE responsiveness, atopic"	"OMIM:147050"	"OMIM:147050"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6015"	"IL4R"	"OMIM:147050"	"{Atopy, susceptibility to} 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-08 20:04:54"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/241"	"IL4R0AtopyS03"	"2020-12-04"
"GENCC_000106-HGNC_6093-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6093"	"INSRR"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6093"	"INSRR"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-11 20:04:54"	""	""	"31981491, 24463507, 28135719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/242"	"INSRR0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6144-OMIM_191830-HP_0000007-GENCC_100002"	"HGNC:6144"	"ITGA8"	"MONDO:0024519"	"renal hypodysplasia/aplasia 1"	"OMIM:191830"	"OMIM:191830"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6144"	"ITGA8"	"OMIM:191830"	"renal hypodysplasia/aplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:15:18"	""	""	"140625, 212630, 24439109, 24700879, 282006, 29096039, 9054500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA80RenalHyp"	"2023-11-30"
"GENCC_000106-HGNC_6179-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6179"	"ITPKB"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6179"	"ITPKB"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-03 20:04:54"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/244"	"ITPKB0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6181-OMIM_106190-HP_0000007-GENCC_100004"	"HGNC:6181"	"ITPR2"	"MONDO:0007118"	"isolated anhidrosis with normal sweat glands"	"OMIM:106190"	"OMIM:106190"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6181"	"ITPR2"	"OMIM:106190"	"isolated anhidrosis with normal sweat glands"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:57"	""	""	"25329695"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR20?Anhidro"	"2023-11-30"
"GENCC_000106-HGNC_619-OMIM_181500-HP_0000006-GENCC_100008"	"HGNC:619"	"APOL2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:619"	"APOL2"	"OMIM:181500"	"{Schizophrenia} 3"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-27 20:04:55"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/246"	"APOL20Schizop05"	"2020-12-04"
"GENCC_000106-HGNC_6292-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:6292"	"KCNN3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6292"	"KCNN3"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-13 15:18:59"	""	""	"11326292, 24206670, 26537360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNN30{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_6295-OMIM_130650-HP_0000005-GENCC_100004"	"HGNC:6295"	"KCNQ1OT1"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"OMIM:130650"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6295"	"KCNQ1OT1"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"15372379, 21920939, 2822824, 29445485, 29602885, 2983146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ1OT10Beckwith"	"2023-11-30"
"GENCC_000106-HGNC_6401-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6401"	"TNPO1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6401"	"TNPO1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-09 20:04:56"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/251"	"TNPO10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6416-OMIM_161000-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"OMIM:161000"	"OMIM:161000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6416"	"KRT14"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 10:28:30"	""	""	"1303619, 16960809, 18049449, 198318, 21734713, 30968399, 32282935, 7525408, 8496458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT140Naegeli-"	"2023-11-30"
"GENCC_000106-HGNC_6427-OMIM_167210-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008174"	"pachyonychia congenita 2"	"OMIM:167210"	"OMIM:167210"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6427"	"KRT17"	"OMIM:167210"	"pachyonychia congenita 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10571744, 11348474, 18547302, 20301457, 23278621, 25946540, 26165312, 28794556, 29904921, 9767294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT170Pachyony02"	"2023-11-30"
"GENCC_000106-HGNC_6427-OMIM_184500-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008485"	"sebocystomatosis"	"OMIM:184500"	"OMIM:184500"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6427"	"KRT17"	"OMIM:184500"	"sebocystomatosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"19659471, 24371407, 25946540, 26165312, 29218738, 31237972, 9008238, 9767294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT170Steatocy"	"2023-11-30"
"GENCC_000106-HGNC_6439-OMIM_146800-HP_0000006-GENCC_100002"	"HGNC:6439"	"KRT2"	"MONDO:0007813"	"superficial epidermolytic ichthyosis"	"OMIM:146800"	"OMIM:146800"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6439"	"KRT2"	"OMIM:146800"	"superficial epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 07:07:29"	""	""	"10084318, 10620137, 26581228, 33081034, 34779035, 8077693, 9204966, 9804344"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT20Ichthyos013"	"2023-11-30"
"GENCC_000106-HGNC_6441-OMIM_193900-HP_0000006-GENCC_100002"	"HGNC:6441"	"KRT4"	"MONDO:0008676"	"white sponge nevus 1"	"OMIM:193900"	"OMIM:193900"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6441"	"KRT4"	"OMIM:193900"	"white sponge nevus 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10652003, 12828738, 18992023, 29738605, 7493030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT40WhiteSpo"	"2023-11-30"
"GENCC_000106-HGNC_6447-OMIM_144200-HP_0000006-GENCC_100002"	"HGNC:6447"	"KRT9"	"MONDO:0007758"	"epidermolytic palmoplantar keratoderma"	"OMIM:144200"	"OMIM:144200"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6447"	"KRT9"	"OMIM:144200"	"epidermolytic palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10632938, 21410681, 21715251, 22262370, 27864007, 30666268, 31074163, 33914963, 36076978, 8647270"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT90Palmopla"	"2023-11-30"
"GENCC_000106-HGNC_6458-OMIM_158000-HP_0000005-GENCC_100004"	"HGNC:6458"	"KRT81"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"OMIM:158000"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6458"	"KRT81"	"OMIM:158000"	"monilethrix"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-05 08:47:55"	""	""	"22628999, 9402962, 9665406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT810Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6460-OMIM_158000-HP_0000006-GENCC_100002"	"HGNC:6460"	"KRT83"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"OMIM:158000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6460"	"KRT83"	"OMIM:158000"	"monilethrix"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"15744029, 25557232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT830Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6463-OMIM_158000-HP_0000006-GENCC_100002"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"OMIM:158000"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6463"	"KRT86"	"OMIM:158000"	"monilethrix"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10504448, 15050877, 25557232, 25809918, 28299823, 9241275, 9402962, 94402962, 9665406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT860Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6628-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6628"	"LLGL1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6628"	"LLGL1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-07 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/261"	"LLGL10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6692-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:6692"	"LRP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6692"	"LRP1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"21743468, 26039597, 26666178, 31094488"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_6700-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6700"	"LRP8"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6700"	"LRP8"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-25 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/263"	"LRP80Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6702-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6702"	"LRRFIP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6702"	"LRRFIP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-02-12 20:04:57"	""	""	"21795503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/264"	"LRRFIP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6740-OMIM_105200-HP_0000006-GENCC_100002"	"HGNC:6740"	"LYZ"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"OMIM:105200"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6740"	"LYZ"	"OMIM:105200"	"familial visceral amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:17"	""	""	"10350460, 10534505, 12709420, 16329101, 17269695, 21574221, 8464497, 8566845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYZ0Amyloido02"	"2023-11-30"
"GENCC_000106-HGNC_6770-OMIM_139210-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0007688"	"Myhre syndrome"	"OMIM:139210"	"OMIM:139210"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6770"	"SMAD4"	"OMIM:139210"	"Myhre syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-22 19:19:58"	""	""	"22158539, 22243968, 24398790, 27302097, 36194927"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD40MYH"	"2023-11-30"
"GENCC_000106-HGNC_6847-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6847"	"MAP2K7"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6847"	"MAP2K7"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-25 20:04:57"	""	""	"31219577, 27774567"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/267"	"MAP2K70Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6930-OMIM_202200-HP_0000007-GENCC_100002"	"HGNC:6930"	"MC2R"	"MONDO:0024536"	"glucocorticoid deficiency 1"	"OMIM:202200"	"OMIM:202200"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6930"	"MC2R"	"OMIM:202200"	"glucocorticoid deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 15:42:22"	""	""	"17989225, 19170705, 1970705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MC2R0Glucocor03"	"2023-11-30"
"GENCC_000106-HGNC_6984-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6984"	"ME2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6984"	"ME2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-26 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/269"	"ME20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7-OMIM_104300-HP_0000005-GENCC_100008"	"HGNC:7"	"A2M"	"MONDO:0007088"	"Alzheimer disease type 1"	"OMIM:104300"	"OMIM:104300"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7"	"A2M"	"OMIM:104300"	"{Alzheimer disease, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:57"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/270"	"A2M0Alzheim02"	"2020-12-04"
"GENCC_000106-HGNC_7043-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:7043"	"MGAM"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7043"	"MGAM"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-16 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/271"	"MGAM0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7102-OMIM_188470-HP_0000005-GENCC_100008"	"HGNC:7102"	"MINPP1"	"MONDO:0008566"	"thyroid cancer, nonmedullary, 2"	"OMIM:188470"	"OMIM:188470"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7102"	"MINPP1"	"OMIM:188470"	"Thyroid carcinoma, follicular"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:58"	""	""	"29248581, 11297621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/272"	"MINPP10ThyroidC"	"2020-12-04"
"GENCC_000106-HGNC_7211-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7211"	"MPG"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7211"	"MPG"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:58"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/273"	"MPG0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7316-OMIM_147050-HP_0000005-GENCC_100008"	"HGNC:7316"	"MS4A2"	"MONDO:0007817"	"IgE responsiveness, atopic"	"OMIM:147050"	"OMIM:147050"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7316"	"MS4A2"	"OMIM:147050"	"{Atopy, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-01 20:04:58"	""	""	"10427478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/274"	"MS4A20AtopyS02"	"2020-12-04"
"GENCC_000106-HGNC_7508-OMIM_174000-HP_0000005-GENCC_100004"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"OMIM:174000"	"OMIM:174000"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7508"	"MUC1"	"OMIM:174000"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-09 21:31:50"	""	""	"22865819, 23396133, 24509297, 24670410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUC10Medullar"	"2023-11-30"
"GENCC_000106-HGNC_7533-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:7533"	"MX2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7533"	"MX2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-15 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/276"	"MX20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7553-OMIM_113970-HP_0000005-GENCC_100008"	"HGNC:7553"	"MYC"	"MONDO:0007243"	"Burkitt lymphoma"	"OMIM:113970"	"OMIM:113970"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7553"	"MYC"	"OMIM:113970"	"Burkitt lymphoma"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-12 20:04:58"	""	""	"8220424, 25058500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/277"	"MYC0BurkittL"	"2020-12-04"
"GENCC_000106-HGNC_7658-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:7658"	"NCBP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7658"	"NCBP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-08 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/278"	"NCBP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7681-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7681"	"NDST2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7681"	"NDST2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-28 20:04:58"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/279"	"NDST20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7873-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7873"	"NOS2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7873"	"NOS2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-08 20:04:58"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/281"	"NOS20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7961-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7961"	"NR0B2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7961"	"NR0B2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-12-16 20:04:58"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/282"	"NR0B20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_8008-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:8008"	"NRXN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8008"	"NRXN1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-16 13:46:46"	""	""	"21424692, 24126932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRXN10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_812-OMIM_101900-HP_0000006-GENCC_100002"	"HGNC:812"	"ATP2A2"	"MONDO:0007048"	"acrokeratosis verruciformis"	"OMIM:101900"	"OMIM:101900"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:812"	"ATP2A2"	"OMIM:101900"	"acrokeratosis verruciformis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"12542527, 20518781, 22814319, 25622760, 28498512, 30968598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2A20Acrokera"	"2023-11-30"
"GENCC_000106-HGNC_812-OMIM_124200-HP_0000006-GENCC_100002"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"OMIM:124200"	"OMIM:124200"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:812"	"ATP2A2"	"OMIM:124200"	"Darier disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 12:15:59"	""	""	"10080178, 10441324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2A20DarierDi"	"2023-11-30"
"GENCC_000106-HGNC_85-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:85"	"ACACB"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:85"	"ACACB"	"OMIM:119540"	"isolated cleft palate"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-08 12:27:38"	""	""	"28767323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACACB0CleftPal02"	"2023-11-30"
"GENCC_000106-HGNC_8507-OMIM_105250-HP_0000006-GENCC_100002"	"HGNC:8507"	"OSMR"	"MONDO:0024522"	"amyloidosis, primary localized cutaneous, 1"	"OMIM:105250"	"OMIM:105250"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8507"	"OSMR"	"OMIM:105250"	"amyloidosis, primary localized cutaneous, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"17107390, 19690585, 20507362, 23692662, 27289340"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OSMR0Amyloido"	"2023-11-30"
"GENCC_000106-HGNC_854-OMIM_124480-HP_0000006-GENCC_100002"	"HGNC:854"	"ATP6V1B2"	"MONDO:0007420"	"autosomal dominant deafness - onychodystrophy syndrome"	"OMIM:124480"	"OMIM:124480"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:854"	"ATP6V1B2"	"OMIM:124480"	"autosomal dominant deafness - onychodystrophy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-10 09:21:29"	""	""	"24913193, 28396750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1B20Deafness03"	"2023-11-30"
"GENCC_000106-HGNC_8618-OMIM_125853-HP_0000005-GENCC_100004"	"HGNC:8618"	"PAX4"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"OMIM:125853"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8618"	"PAX4"	"OMIM:125853"	"Diabetes mellitus, type 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-10-03 20:04:59"	""	""	"30528630, 29950431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/289"	"PAX40Diabetes05"	"2020-12-04"
"GENCC_000106-HGNC_8734-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:8734"	"NUP85"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8734"	"NUP85"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-06 20:04:59"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/290"	"NUP850Tourette"	"2020-12-04"
"GENCC_000106-HGNC_8778-OMIM_112410-HP_0000006-GENCC_100002"	"HGNC:8778"	"PDE3A"	"MONDO:0007211"	"brachydactyly-arterial hypertension syndrome"	"OMIM:112410"	"OMIM:112410"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8778"	"PDE3A"	"OMIM:112410"	"brachydactyly-arterial hypertension syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"25961942, 27053290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE3A0Hyperten"	"2023-11-30"
"GENCC_000106-HGNC_8794-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:8794"	"PDE8B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8794"	"PDE8B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-07-22 20:04:59"	""	""	"29767709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/292"	"PDE8B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_8803-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:8803"	"PDGFRA"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8803"	"PDGFRA"	"OMIM:119540"	"isolated cleft palate"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 23:20:17"	""	""	"22473090, 35147171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRA0CleftPal02"	"2023-11-30"
"GENCC_000106-HGNC_894-OMIM_125700-HP_0000006-GENCC_100002"	"HGNC:894"	"AVP"	"MONDO:0007450"	"neurohypophyseal diabetes insipidus"	"OMIM:125700"	"OMIM:125700"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:894"	"AVP"	"OMIM:125700"	"neurohypophyseal diabetes insipidus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-21 06:40:01"	""	""	"27513365, 27539621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AVP0Diabetes03"	"2023-11-30"
"GENCC_000106-HGNC_9020-OMIM_102900-HP_0000006-GENCC_100004"	"HGNC:9020"	"PKLR"	"MONDO:0007067"	"pyruvate kinase hyperactivity"	"OMIM:102900"	"OMIM:102900"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9020"	"PKLR"	"OMIM:102900"	"pyruvate kinase hyperactivity"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-18 12:33:25"	""	""	"26658699, 9090535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKLR0Adenosin"	"2023-11-30"
"GENCC_000106-HGNC_9031-OMIM_114500-HP_0000006-GENCC_100008"	"HGNC:9031"	"PLA2G2A"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"OMIM:114500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9031"	"PLA2G2A"	"OMIM:114500"	"{Colorectal cancer}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-06 20:04:59"	""	""	"9272153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/296"	"PLA2G2A0Colorec"	"2020-12-04"
"GENCC_000106-HGNC_9060-OMIM_151600-HP_0000007-GENCC_100002"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"OMIM:151600"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"nonsyndromic congenital nail disorder 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 06:41:30"	""	""	"21665001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCD10NailDiso03"	"2023-11-30"
"GENCC_000106-HGNC_9060-OMIM_151600-HP_0000006-GENCC_100004"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"OMIM:151600"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"nonsyndromic congenital nail disorder 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-01 06:41:30"	""	""	"21665001, 27783455"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCD10NailDiso02"	"2023-11-30"
"GENCC_000106-HGNC_9153-OMIM_137580-HP_0000006-GENCC_100004"	"HGNC:9153"	"PNKD"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9153"	"PNKD"	"OMIM:137580"	"Tourette syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:32"	""	""	"28894297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNKD0Tourette"	"2023-11-30"
"GENCC_000106-HGNC_9277-OMIM_114480-HP_0000005-GENCC_100008"	"HGNC:9277"	"PPM1D"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"OMIM:114480"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9277"	"PPM1D"	"OMIM:114480"	"Breast cancer 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-02 20:05:00"	""	""	"23242139, 25742468, 27401275, 26823519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/300"	"PPM1D0BreastCa"	"2020-12-04"
"GENCC_000106-HGNC_9279-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:9279"	"PDP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"OMIM:137580"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9279"	"PDP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-03-14 20:05:00"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/301"	"PDP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_9291-OMIM_125853-HP_0000005-GENCC_100008"	"HGNC:9291"	"PPP1R3A"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"OMIM:125853"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9291"	"PPP1R3A"	"OMIM:125853"	"Insulin resistance, severe, digenic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-27 20:05:00"	""	""	"29948331, 25363768, 12118251"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/302"	"PPP1R3A0InsulinR"	"2020-12-04"
"GENCC_000106-HGNC_9316-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:9316"	"PPP3CC"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9316"	"PPP3CC"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:05:00"	""	""	"16721403, 17141475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/303"	"PPP3CC0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_9586-OMIM_109400-HP_0000005-GENCC_100004"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"OMIM:109400"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9586"	"PTCH2"	"OMIM:109400"	"nevoid basal cell carcinoma syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 07:49:51"	""	""	"18285427, 23479190, 30820324, 31945512, 34170463, 35437209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCH20BasalNevus"	"2023-11-30"
"GENCC_000106-HGNC_9603-OMIM_145500-HP_0000005-GENCC_100004"	"HGNC:9603"	"PTGIS"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"OMIM:145500"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9603"	"PTGIS"	"OMIM:145500"	"essential hypertension, genetic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-18 09:18:17"	""	""	"12372404, 31453292, 32236489, 9217767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTGIS0Hyperten03"	"2023-11-30"
"GENCC_000106-HGNC_9655-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:9655"	"PTPN3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"OMIM:181500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9655"	"PTPN3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-15 20:05:01"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/307"	"PTPN30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_9673-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:9673"	"PTPRJ"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"OMIM:114500"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9673"	"PTPRJ"	"OMIM:114500"	"Colon cancer, somatic 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-11 20:05:01"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/308"	"PTPRJ0ColonCan04"	"2020-12-04"
"GENCC_000106-HGNC_9817-OMIM_114480-HP_0000006-GENCC_100008"	"HGNC:9817"	"RAD51"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"OMIM:114480"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9817"	"RAD51"	"OMIM:114480"	"{Breast cancer, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-24 20:05:01"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/309"	"RAD510BreastC"	"2020-12-04"
"GENCC_000106-HGNC_9871-OMIM_187300-HP_0000006-GENCC_100008"	"HGNC:9871"	"RASA1"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"OMIM:187300"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9871"	"RASA1"	"OMIM:187300"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-04-03 20:05:01"	""	""	"24268183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/310"	"RASA10HHT"	"2020-12-04"
"GENCC_000108-HGNC_59-MONDO_0017182-HP_0000007-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0017182"	"familial hyperinsulinism"	"MONDO:0017182"	"familial hyperinsulinism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:59"	"ABCC8"	"MONDO:0017182"	"Familial hyperinsulinism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"1"	"2020-10-13"
"GENCC_000108-HGNC_186-MONDO_0007064-HP_0000007-GENCC_100001"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:186"	"ADA"	"MONDO:0007064"	"Adenosine deaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-26 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"2"	"2020-10-13"
"GENCC_000108-HGNC_318-MONDO_0008830-HP_0000007-GENCC_100001"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"MONDO:0008830"	"aspartylglucosaminuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:318"	"AGA"	"MONDO:0008830"	"Aspartylglucosaminuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"3"	"2020-10-13"
"GENCC_000108-HGNC_321-MONDO_0009291-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"MONDO:0009291"	"glycogen storage disease III"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:321"	"AGL"	"MONDO:0009291"	"Glycogen storage disease III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-19 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"4"	"2020-10-13"
"GENCC_000108-HGNC_341-MONDO_0009823-HP_0000007-GENCC_100001"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"Primary hyperoxaluria type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"5"	"2020-10-13"
"GENCC_000108-HGNC_360-MONDO_0009411-HP_0000007-GENCC_100001"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"Autoimmune polyendocrine syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"6"	"2020-10-13"
"GENCC_000108-HGNC_403-MONDO_0010031-HP_0000007-GENCC_100001"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"7"	"2020-10-13"
"GENCC_000108-HGNC_417-MONDO_0009249-HP_0000007-GENCC_100001"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"MONDO:0009249"	"hereditary fructose intolerance"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"Hereditary fructose intolerance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-26 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"8"	"2020-10-13"
"GENCC_000108-HGNC_23157-MONDO_0011291-HP_0000007-GENCC_100001"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"Congenital disorder of glycosylation type 1C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-23 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"9"	"2020-10-13"
"GENCC_000108-HGNC_438-MONDO_0018570-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0018570"	"hypophosphatasia"	"MONDO:0018570"	"hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:438"	"ALPL"	"MONDO:0018570"	"Hypophosphatasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"10"	"2020-10-13"
"GENCC_000108-HGNC_473-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:473"	"AMT"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:473"	"AMT"	"MONDO:0011612"	"Glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-03-13 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"11"	"2020-10-13"
"GENCC_000108-HGNC_663-MONDO_0008814-HP_0000007-GENCC_100001"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"MONDO:0008814"	"hyperargininemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"Hyperargininemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-09 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"12"	"2020-10-13"
"GENCC_000108-HGNC_713-MONDO_0018868-HP_0000007-GENCC_100001"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"metachromatic leukodystrophy"	"MONDO:0018868"	"metachromatic leukodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"Metachromatic leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"13"	"2020-10-13"
"GENCC_000108-HGNC_746-MONDO_0008815-HP_0000007-GENCC_100001"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"MONDO:0008815"	"argininosuccinic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:746"	"ASL"	"MONDO:0008815"	"Argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-25 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"14"	"2020-10-13"
"GENCC_000108-HGNC_756-MONDO_0010079-HP_0000007-GENCC_100001"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"MONDO:0010079"	"Canavan disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"15"	"2020-10-13"
"GENCC_000108-HGNC_758-MONDO_0008988-HP_0000007-GENCC_100001"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"citrullinemia type I"	"MONDO:0008988"	"citrullinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"Citrullinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-14 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"16"	"2020-10-13"
"GENCC_000108-HGNC_966-MONDO_0008854-HP_0000007-GENCC_100001"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"17"	"2020-10-13"
"GENCC_000108-HGNC_26291-MONDO_0014438-HP_0000007-GENCC_100001"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"18"	"2020-10-13"
"GENCC_000108-HGNC_26648-MONDO_0014440-HP_0000007-GENCC_100001"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"19"	"2020-10-13"
"GENCC_000108-HGNC_967-MONDO_0014432-HP_0000007-GENCC_100001"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-21 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"20"	"2020-10-13"
"GENCC_000108-HGNC_986-MONDO_0023691-HP_0000007-GENCC_100001"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"Maple syrup urine disease type 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"21"	"2020-10-13"
"GENCC_000108-HGNC_987-MONDO_0023692-HP_0000007-GENCC_100001"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"Maple syrup urine disease type 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"22"	"2020-10-13"
"GENCC_000108-HGNC_1058-MONDO_0008876-HP_0000007-GENCC_100001"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"MONDO:0008876"	"Bloom syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"24"	"2020-10-13"
"GENCC_000108-HGNC_1122-MONDO_0009665-HP_0000007-GENCC_100001"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"MONDO:0009665"	"biotinidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"Biotinidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"25"	"2020-10-13"
"GENCC_000108-HGNC_1133-MONDO_0010421-HP_0001417-GENCC_100001"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-26 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"26"	"2020-10-13"
"GENCC_000108-HGNC_1480-MONDO_0009675-HP_0000007-GENCC_100001"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"Autosomal recessive limb-girdle muscular dystrophy type 2A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"27"	"2020-10-13"
"GENCC_000108-HGNC_1550-MONDO_0009352-HP_0000007-GENCC_100001"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"MONDO:0009352"	"classic homocystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"Classic homocystinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-25 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"28"	"2020-10-13"
"GENCC_000108-HGNC_1884-MONDO_0009061-HP_0000007-GENCC_100001"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"cystic fibrosis"	"MONDO:0009061"	"cystic fibrosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-12 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"29"	"2020-10-13"
"GENCC_000108-HGNC_2074-MONDO_0008767-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"Neuronal ceroid lipofuscinosis 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-31 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"31"	"2020-10-13"
"GENCC_000108-HGNC_2076-MONDO_0009745-HP_0000007-GENCC_100001"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"Neuronal ceroid lipofuscinosis 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"32"	"2020-10-13"
"GENCC_000108-HGNC_2077-MONDO_0011144-HP_0000007-GENCC_100001"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"Neuronal ceroid lipofuscinosis 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"33"	"2020-10-13"
"GENCC_000108-HGNC_2079-MONDO_0010830-HP_0000007-GENCC_100001"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"Neuronal ceroid lipofuscinosis 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"34"	"2020-10-13"
"GENCC_000108-HGNC_2204-MONDO_0008762-HP_0000007-GENCC_100001"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"35"	"2020-10-13"
"GENCC_000108-HGNC_2206-MONDO_0008762-HP_0000007-GENCC_100001"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"36"	"2020-10-13"
"GENCC_000108-HGNC_2207-MONDO_0010520-HP_0001417-GENCC_100001"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"MONDO:0010520"	"X-linked Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"Alport syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"37"	"2020-10-13"
"GENCC_000108-HGNC_2323-MONDO_0009376-HP_0000007-GENCC_100001"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"Carbamoyl phosphate synthetase I deficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"38"	"2020-10-13"
"GENCC_000108-HGNC_2330-MONDO_0015515-HP_0000007-GENCC_100001"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"Carnitine Palmitoyltransferase 2 Deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"39"	"2020-10-13"
"GENCC_000108-HGNC_2518-MONDO_0016239-HP_0000007-GENCC_100001"	"HGNC:2518"	"CTNS"	"MONDO:0016239"	"cystinosis"	"MONDO:0016239"	"cystinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2518"	"CTNS"	"MONDO:0016239"	"Cystinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"40"	"2020-10-13"
"GENCC_000108-HGNC_2536-MONDO_0009940-HP_0000007-GENCC_100001"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"MONDO:0009940"	"pycnodysostosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"Pycnodysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-09 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"41"	"2020-10-13"
"GENCC_000108-HGNC_2591-MONDO_0008729-HP_0000007-GENCC_100001"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"42"	"2020-10-13"
"GENCC_000108-HGNC_2600-MONDO_0008728-HP_0000007-GENCC_100001"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"43"	"2020-10-13"
"GENCC_000108-HGNC_2605-MONDO_0008948-HP_0000007-GENCC_100001"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"Cerebrotendinous xanthomatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"44"	"2020-10-13"
"GENCC_000108-HGNC_2698-MONDO_0023693-HP_0000007-GENCC_100001"	"HGNC:2698"	"DBT"	"MONDO:0023693"	"maple syrup urine disease type 2"	"MONDO:0023693"	"maple syrup urine disease type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2698"	"DBT"	"MONDO:0023693"	"Maple syrup urine disease, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-28 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"45"	"2020-10-13"
"GENCC_000108-HGNC_2860-MONDO_0010035-HP_0000007-GENCC_100001"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-01 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"46"	"2020-10-13"
"GENCC_000108-HGNC_2898-MONDO_0009529-HP_0000007-GENCC_100001"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"Dihydrolipoamide Dehydrogenase Deficiency (DLD deficiency)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"47"	"2020-10-13"
"GENCC_000108-HGNC_2928-MONDO_0016899-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2928"	"DMD"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"48"	"2020-10-13"
"GENCC_000108-HGNC_3097-MONDO_0016145-HP_0000007-GENCC_100001"	"HGNC:3097"	"DYSF"	"MONDO:0016145"	"qualitative or quantitative defects of dysferlin"	"MONDO:0016145"	"qualitative or quantitative defects of dysferlin"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3097"	"DYSF"	"MONDO:0016145"	"Dysferlinopathy, LGMD2B, Miyoshi myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"49"	"2020-10-13"
"GENCC_000108-HGNC_3261-MONDO_0011380-HP_0000007-GENCC_100001"	"HGNC:3261"	"EIF2B5"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3261"	"EIF2B5"	"MONDO:0011380"	"Leukoencephalopathy with vanishing white matter"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-22 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"50"	"2020-10-13"
"GENCC_000108-HGNC_5959-MONDO_0021809-HP_0000007-GENCC_100001"	"HGNC:5959"	"ELP1"	"MONDO:0021809"	"primary dysautonomia"	"MONDO:0021809"	"primary dysautonomia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5959"	"ELP1"	"MONDO:0021809"	"Familial Dysautonomia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-24 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"51"	"2020-10-13"
"GENCC_000108-HGNC_3438-MONDO_0019570-HP_0000007-GENCC_100001"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"MONDO:0019570"	"Cockayne syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"52"	"2020-10-13"
"GENCC_000108-HGNC_3439-MONDO_0019569-HP_0000007-GENCC_100001"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"MONDO:0019569"	"Cockayne syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"53"	"2020-10-13"
"GENCC_000108-HGNC_3497-MONDO_0009162-HP_0000007-GENCC_100001"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"54"	"2020-10-13"
"GENCC_000108-HGNC_19747-MONDO_0009162-HP_0000007-GENCC_100001"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"55"	"2020-10-13"
"GENCC_000108-HGNC_3579-MONDO_0010161-HP_0000007-GENCC_100001"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"MONDO:0010161"	"tyrosinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"Tyrosinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-06 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"56"	"2020-10-13"
"GENCC_000108-HGNC_3582-MONDO_0009215-HP_0000007-GENCC_100001"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"57"	"2020-10-13"
"GENCC_000108-HGNC_3584-MONDO_0009213-HP_0000007-GENCC_100001"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"58"	"2020-10-13"
"GENCC_000108-HGNC_17997-MONDO_0011688-HP_0000007-GENCC_100001"	"HGNC:17997"	"FKRP"	"MONDO:0011688"	"muscular dystrophy-dystroglycanopathy type B5"	"MONDO:0011688"	"muscular dystrophy-dystroglycanopathy type B5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:17997"	"FKRP"	"MONDO:0011688"	"Muscular dystrophy-dystroglycanopathy type B5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"59"	"2020-10-13"
"GENCC_000108-HGNC_3775-MONDO_0010383-HP_0001417-GENCC_100001"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"MONDO:0010383"	"fragile X syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"Fragile X"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"61"	"2020-10-13"
"GENCC_000108-HGNC_4056-MONDO_0009287-HP_0000007-GENCC_100001"	"HGNC:4056"	"G6PC1"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4056"	"G6PC"	"MONDO:0009287"	"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"62"	"2020-10-13"
"GENCC_000108-HGNC_4115-MONDO_0009499-HP_0000007-GENCC_100001"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"MONDO:0009499"	"Krabbe disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-10 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"63"	"2020-10-13"
"GENCC_000108-HGNC_4118-MONDO_0009255-HP_0000007-GENCC_100001"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"MONDO:0009255"	"galactokinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"Galactokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"64"	"2020-10-13"
"GENCC_000108-HGNC_4135-MONDO_0018116-HP_0000007-GENCC_100001"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"galactosemia"	"MONDO:0018116"	"galactosemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"Galactosemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"65"	"2020-10-13"
"GENCC_000108-HGNC_4177-MONDO_0018150-HP_0000007-GENCC_100001"	"HGNC:4177"	"GBA1"	"MONDO:0018150"	"Gaucher disease"	"MONDO:0018150"	"Gaucher disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4177"	"GBA"	"MONDO:0018150"	"Gaucher disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"66"	"2020-10-13"
"GENCC_000108-HGNC_4189-MONDO_0009281-HP_0000007-GENCC_100001"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"Glutaryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"67"	"2020-10-13"
"GENCC_000108-HGNC_4298-MONDO_0018149-HP_0000007-GENCC_100001"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"MONDO:0018149"	"GM1 gangliosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"68"	"2020-10-13"
"GENCC_000108-HGNC_4313-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"Glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"69"	"2020-10-13"
"GENCC_000108-HGNC_23657-MONDO_0011603-HP_0000007-GENCC_100001"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"MONDO:0011603"	"GNE myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"70"	"2020-10-13"
"GENCC_000108-HGNC_29670-MONDO_0019248-HP_0000007-GENCC_100001"	"HGNC:29670"	"GNPTAB"	"MONDO:0019248"	"mucolipidosis"	"MONDO:0019248"	"mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:29670"	"GNPTAB"	"MONDO:0019248"	"Mucolipidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-27 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"71"	"2020-10-13"
"GENCC_000108-HGNC_23026-MONDO_0009652-HP_0000007-GENCC_100001"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"Mucolipidosis type III gamma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"72"	"2020-10-13"
"GENCC_000108-HGNC_4570-MONDO_0009824-HP_0000007-GENCC_100001"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"Primary hyperoxaluria type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"73"	"2020-10-13"
"GENCC_000108-HGNC_4827-MONDO_0019402-HP_0000007-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0019402"	"beta thalassemia"	"MONDO:0019402"	"beta thalassemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4827"	"HBB"	"MONDO:0019402"	"Beta thalassemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"75"	"2020-10-13"
"GENCC_000108-HGNC_4878-MONDO_0010100-HP_0000007-GENCC_100001"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"MONDO:0010100"	"Tay-Sachs disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"76"	"2020-10-13"
"GENCC_000108-HGNC_4879-MONDO_0010006-HP_0000007-GENCC_100001"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"MONDO:0010006"	"Sandhoff disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"77"	"2020-10-13"
"GENCC_000108-HGNC_26527-MONDO_0018937-HP_0000007-GENCC_100001"	"HGNC:26527"	"HGSNAT"	"MONDO:0018937"	"mucopolysaccharidosis type 3"	"MONDO:0018937"	"mucopolysaccharidosis type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26527"	"HGSNAT"	"MONDO:0018937"	"Mucopolysaccharidosis type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-23 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"78"	"2020-10-13"
"GENCC_000108-HGNC_4976-MONDO_0009666-HP_0000007-GENCC_100001"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"Holocarboxylase synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"79"	"2020-10-13"
"GENCC_000108-HGNC_5005-MONDO_0009520-HP_0000007-GENCC_100001"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"80"	"2020-10-13"
"GENCC_000108-HGNC_25155-MONDO_0013327-HP_0000007-GENCC_100001"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"Primary hyperoxaluria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-11 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"81"	"2020-10-13"
"GENCC_000108-HGNC_5213-MONDO_0009855-HP_0000007-GENCC_100001"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"D-bifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"82"	"2020-10-13"
"GENCC_000108-HGNC_5389-MONDO_0010674-HP_0001417-GENCC_100001"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"Mucopolysaccharidosis type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-24 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"83"	"2020-10-13"
"GENCC_000108-HGNC_5391-MONDO_0001586-HP_0000007-GENCC_100001"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"Mucopolysaccharidosis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"84"	"2020-10-13"
"GENCC_000108-HGNC_6010-MONDO_0010315-HP_0001417-GENCC_100001"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"85"	"2020-10-13"
"GENCC_000108-HGNC_6186-MONDO_0009475-HP_0000007-GENCC_100001"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"MONDO:0009475"	"isovaleric acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"Isovaleric acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"86"	"2020-10-13"
"GENCC_000108-HGNC_6257-MONDO_0011153-HP_0000007-GENCC_100001"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"Hyperinsulinemic hypoglycemia, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"87"	"2020-10-13"
"GENCC_000108-HGNC_6482-MONDO_0011925-HP_0000007-GENCC_100001"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"Muscular dystrophy, congenital merosin-deficient"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"88"	"2020-10-13"
"GENCC_000108-HGNC_6483-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6483"	"LAMA3"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6483"	"LAMA3"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"89"	"2020-10-13"
"GENCC_000108-HGNC_6490-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6490"	"LAMB3"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6490"	"LAMB3"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"90"	"2020-10-13"
"GENCC_000108-HGNC_6493-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6493"	"LAMC2"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6493"	"LAMC2"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"91"	"2020-10-13"
"GENCC_000108-HGNC_6617-MONDO_0010204-HP_0000007-GENCC_100001"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"Lysosomal acid lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"92"	"2020-10-13"
"GENCC_000108-HGNC_15714-MONDO_0009068-HP_0000007-GENCC_100001"	"HGNC:15714"	"LRPPRC"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:15714"	"LRPPRC"	"MONDO:0009068"	"Leigh syndrome: French-Canadian (LSFC)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-28 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"93"	"2020-10-13"
"GENCC_000108-HGNC_6826-MONDO_0009561-HP_0000007-GENCC_100001"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"MONDO:0009561"	"alpha-mannosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"Alpha-mannosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"94"	"2020-10-13"
"GENCC_000108-HGNC_13356-MONDO_0009653-HP_0000007-GENCC_100001"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"MONDO:0009653"	"mucolipidosis type IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"Mucolipidosis type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"95"	"2020-10-13"
"GENCC_000108-HGNC_6998-MONDO_0018088-HP_0000007-GENCC_100001"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"familial Mediterranean fever"	"MONDO:0018088"	"familial Mediterranean fever"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"Familial Mediterranean fever"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-10-06 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"96"	"2020-10-13"
"GENCC_000108-HGNC_7121-MONDO_0009571-HP_0000007-GENCC_100001"	"HGNC:7121"	"MKS1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7121"	"MKS1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"97"	"2020-10-13"
"GENCC_000108-HGNC_17082-MONDO_0024555-HP_0000007-GENCC_100001"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"Megalencephalic leukoencephalopathy with subcortical cysts 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"98"	"2020-10-13"
"GENCC_000108-HGNC_18871-MONDO_0009613-HP_0000007-GENCC_100001"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"Vitamin B12-responsive methylmalonic acidemia type cblA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-14 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"99"	"2020-10-13"
"GENCC_000108-HGNC_19331-MONDO_0009614-HP_0000007-GENCC_100001"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"Vitamin B12-responsive methylmalonic acidemia type cblB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"100"	"2020-10-13"
"GENCC_000108-HGNC_24525-MONDO_0010184-HP_0000007-GENCC_100001"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"Methylmalonic aciduria and homocystinuria type cblC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"101"	"2020-10-13"
"GENCC_000108-HGNC_7216-MONDO_0011257-HP_0000007-GENCC_100001"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"102"	"2020-10-13"
"GENCC_000108-HGNC_7448-MONDO_0010683-HP_0001417-GENCC_100001"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"MONDO:0010683"	"X-linked myotubular myopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked centronuclear myopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"103"	"2020-10-13"
"GENCC_000108-HGNC_7632-MONDO_0009656-HP_0000007-GENCC_100001"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"Sanfilippo syndrome type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-10 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"105"	"2020-10-13"
"GENCC_000108-HGNC_7652-MONDO_0009623-HP_0000007-GENCC_100001"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"106"	"2020-10-13"
"GENCC_000108-HGNC_7720-MONDO_0009725-HP_0000007-GENCC_100001"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"MONDO:0009725"	"nemaline myopathy 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"Nemaline myopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"107"	"2020-10-13"
"GENCC_000108-HGNC_7897-MONDO_0009757-HP_0000007-GENCC_100001"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-03 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"108"	"2020-10-13"
"GENCC_000108-HGNC_14537-MONDO_0011873-HP_0000007-GENCC_100001"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"109"	"2020-10-13"
"GENCC_000108-HGNC_7908-MONDO_0009732-HP_0000007-GENCC_100001"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"Congenital nephrotic syndrome, Finnish type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-11 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"110"	"2020-10-13"
"GENCC_000108-HGNC_13394-MONDO_0010974-HP_0000007-GENCC_100001"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"Nephrotic syndrome, type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"111"	"2020-10-13"
"GENCC_000108-HGNC_7960-MONDO_0010264-HP_0001417-GENCC_100001"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"112"	"2020-10-13"
"GENCC_000108-HGNC_8142-MONDO_0009787-HP_0000007-GENCC_100001"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"113"	"2020-10-13"
"GENCC_000108-HGNC_8582-MONDO_0009861-HP_0000007-GENCC_100001"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"MONDO:0009861"	"phenylketonuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"Phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"114"	"2020-10-13"
"GENCC_000108-HGNC_8636-MONDO_0009949-HP_0000007-GENCC_100001"	"HGNC:8636"	"PC"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8636"	"PC"	"MONDO:0009949"	"Pyruvate carboxylase deficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"115"	"2020-10-13"
"GENCC_000108-HGNC_8653-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"Propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-15 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"116"	"2020-10-13"
"GENCC_000108-HGNC_8654-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"PCCB-related propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"117"	"2020-10-13"
"GENCC_000108-HGNC_8850-MONDO_0008953-HP_0000007-GENCC_100001"	"HGNC:8850"	"PEX1"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8850"	"PEX1"	"MONDO:0008953"	"Peroxisome biogenesis disorder 1A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"118"	"2020-10-13"
"GENCC_000108-HGNC_8851-MONDO_0013936-HP_0000007-GENCC_100001"	"HGNC:8851"	"PEX10"	"MONDO:0013936"	"peroxisome biogenesis disorder 6A (Zellweger)"	"MONDO:0013936"	"peroxisome biogenesis disorder 6A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8851"	"PEX10"	"MONDO:0013936"	"Peroxisome biogenesis disorder 6A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"119"	"2020-10-13"
"GENCC_000108-HGNC_8854-MONDO_0013927-HP_0000007-GENCC_100001"	"HGNC:8854"	"PEX12"	"MONDO:0013927"	"peroxisome biogenesis disorder 3A (Zellweger)"	"MONDO:0013927"	"peroxisome biogenesis disorder 3A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8854"	"PEX12"	"MONDO:0013927"	"Peroxisome biogenesis disorder 3A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-01 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"120"	"2020-10-13"
"GENCC_000108-HGNC_9717-MONDO_0013932-HP_0000007-GENCC_100001"	"HGNC:9717"	"PEX2"	"MONDO:0013932"	"peroxisome biogenesis disorder 5A (Zellweger)"	"MONDO:0013932"	"peroxisome biogenesis disorder 5A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9717"	"PEX2"	"MONDO:0013932"	"Peroxisome biogenesis disorder 5A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"121"	"2020-10-13"
"GENCC_000108-HGNC_8859-MONDO_0013930-HP_0000007-GENCC_100001"	"HGNC:8859"	"PEX6"	"MONDO:0013930"	"peroxisome biogenesis disorder 4A (Zellweger)"	"MONDO:0013930"	"peroxisome biogenesis disorder 4A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8859"	"PEX6"	"MONDO:0013930"	"Peroxisome biogenesis disorder 4A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"122"	"2020-10-13"
"GENCC_000108-HGNC_8860-MONDO_0008972-HP_0000007-GENCC_100001"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"Rhizomelic chondrodysplasia punctata type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"123"	"2020-10-13"
"GENCC_000108-HGNC_9016-MONDO_0009889-HP_0000007-GENCC_100001"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"Autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"124"	"2020-10-13"
"GENCC_000108-HGNC_9115-MONDO_0005500-HP_0000007-GENCC_100001"	"HGNC:9115"	"PMM2"	"MONDO:0005500"	"congenital disorder of glycosylation type I"	"MONDO:0005500"	"congenital disorder of glycosylation type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9115"	"PMM2"	"MONDO:0005500"	"Congenital disorder of glycosylation, type Ia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-14 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"125"	"2020-10-13"
"GENCC_000108-HGNC_19139-MONDO_0018939-HP_0000007-GENCC_100001"	"HGNC:19139"	"POMGNT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"MONDO:0018939"	"muscle-eye-brain disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19139"	"POMGNT1"	"MONDO:0018939"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-19 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"126"	"2020-10-13"
"GENCC_000108-HGNC_9325-MONDO_0009744-HP_0000007-GENCC_100001"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"Neuronal ceroid lipofuscinosis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"127"	"2020-10-13"
"GENCC_000108-HGNC_9455-MONDO_0009878-HP_0000007-GENCC_100001"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"Pituitary hormone deficiency, combined, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"128"	"2020-10-13"
"GENCC_000108-HGNC_10031-MONDO_0009595-HP_0000007-GENCC_100001"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"Cartilage-hair hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-09 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"129"	"2020-10-13"
"GENCC_000108-HGNC_10457-MONDO_0010725-HP_0001417-GENCC_100001"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"MONDO:0010725"	"X-linked retinoschisis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked juvenile retinoschisis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"130"	"2020-10-13"
"GENCC_000108-HGNC_10519-MONDO_0010041-HP_0000007-GENCC_100001"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"132"	"2020-10-13"
"GENCC_000108-HGNC_10805-MONDO_0011968-HP_0000007-GENCC_100001"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"Autosomal recessive limb-girdle muscular dystrophy type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-27 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"133"	"2020-10-13"
"GENCC_000108-HGNC_10806-MONDO_0011423-HP_0000007-GENCC_100001"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"Autosomal recessive limb-girdle muscular dystrophy type 2E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-24 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"134"	"2020-10-13"
"GENCC_000108-HGNC_10807-MONDO_0011028-HP_0000007-GENCC_100001"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"Autosomal recessive limb-girdle muscular dystrophy type 2F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"135"	"2020-10-13"
"GENCC_000108-HGNC_10809-MONDO_0009677-HP_0000007-GENCC_100001"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"Autosomal recessive limb-girdle muscular dystrophy type 2C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"136"	"2020-10-13"
"GENCC_000108-HGNC_10818-MONDO_0009655-HP_0000007-GENCC_100001"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"Sanfilippo syndrome type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"137"	"2020-10-13"
"GENCC_000108-HGNC_10933-MONDO_0011449-HP_0000007-GENCC_100001"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"MONDO:0011449"	"Salla disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"139"	"2020-10-13"
"GENCC_000108-HGNC_10969-MONDO_0008919-HP_0000007-GENCC_100001"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"Systemic primary carnitine deficiency disease  "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"140"	"2020-10-13"
"GENCC_000108-HGNC_4061-MONDO_0023258-HP_0000007-GENCC_100001"	"HGNC:4061"	"SLC37A4"	"MONDO:0023258"	"glycogen storage disease type 1 due to SLC37A4 mutation"	"MONDO:0023258"	"glycogen storage disease type 1 due to SLC37A4 mutation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4061"	"SLC37A4"	"MONDO:0023258"	"Glycogen storage disease type 1 due to SLC37A4 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-12 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"142"	"2020-10-13"
"GENCC_000108-HGNC_11117-MONDO_0001516-HP_0000007-GENCC_100001"	"HGNC:11117"	"SMN1"	"MONDO:0001516"	"spinal muscular atrophy"	"MONDO:0001516"	"spinal muscular atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11117"	"SMN1"	"MONDO:0001516"	"Spinal muscular atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"143"	"2020-10-13"
"GENCC_000108-HGNC_11120-MONDO_0001982-HP_0000007-GENCC_100001"	"HGNC:11120"	"SMPD1"	"MONDO:0001982"	"Niemann-Pick disease"	"MONDO:0001982"	"Niemann-Pick disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11120"	"SMPD1"	"MONDO:0001982"	"Niemann-Pick disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-26 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"144"	"2020-10-13"
"GENCC_000108-HGNC_11359-MONDO_0008725-HP_0000007-GENCC_100001"	"HGNC:11359"	"STAR"	"MONDO:0008725"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"MONDO:0008725"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11359"	"STAR"	"MONDO:0008725"	"Congenital lipoid adrenal hyperplasia due to STAR deficency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"145"	"2020-10-13"
"GENCC_000108-HGNC_11573-MONDO_0010160-HP_0000007-GENCC_100001"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"MONDO:0010160"	"tyrosinemia type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"Tyrosinemia type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"146"	"2020-10-13"
"GENCC_000108-HGNC_11647-MONDO_0019026-HP_0000007-GENCC_100001"	"HGNC:11647"	"TCIRG1"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11647"	"TCIRG1"	"MONDO:0019026"	"Autosomal recessive osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"147"	"2020-10-13"
"GENCC_000108-HGNC_11777-MONDO_0009441-HP_0000007-GENCC_100001"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"Autosomal recessive congenital ichthyosis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"148"	"2020-10-13"
"GENCC_000108-HGNC_11782-MONDO_0100064-HP_0000007-GENCC_100001"	"HGNC:11782"	"TH"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11782"	"TH"	"MONDO:0100064"	"Tyrosine hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"149"	"2020-10-13"
"GENCC_000108-HGNC_2073-MONDO_0008769-HP_0000007-GENCC_100001"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"Neuronal ceroid lipofuscinosis 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-06 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"150"	"2020-10-13"
"GENCC_000108-HGNC_25751-MONDO_0014144-HP_0000007-GENCC_100001"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"Autosomal recessive limb-girdle muscular dystrophy type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-01 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"151"	"2020-10-13"
"GENCC_000108-HGNC_12404-MONDO_0010188-HP_0000007-GENCC_100001"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"Familial isolated deficiency of vitamin E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"152"	"2020-10-13"
"GENCC_000108-HGNC_2183-MONDO_0008999-HP_0000007-GENCC_100001"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"MONDO:0008999"	"Cohen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-04 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"153"	"2020-10-13"
"GENCC_000108-HGNC_12814-MONDO_0010210-HP_0000007-GENCC_100001"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"Xeroderma pigmentosum group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"154"	"2020-10-13"
"GENCC_000108-HGNC_12816-MONDO_0010211-HP_0000007-GENCC_100001"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"Xeroderma pigmentosum group C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"155"	"2020-10-13"
"GENCC_000108-HGNC_20761-MONDO_0010044-HP_0000007-GENCC_100001"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"Hereditary spastic paraplegia 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-19 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"156"	"2020-10-13"
"GENCC_000111-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"OMIM:613706"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7, MIM# 613706;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/BRAF"	""	"19206169, 18042262"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1097.1"	"2020-11-09"
"GENCC_000111-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"OMIM:115150"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"Cardiofaciocutaneous syndrome, MIM# 115150"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/BRAF"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1097.2"	"2020-11-09"
"GENCC_000111-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100001"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"OMIM:613563"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1541"	"CBL"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/CBL"	""	"25358541, 20619386, 20543203, 20694012"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1541"	"2020-11-09"
"GENCC_000111-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100001"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"OMIM:218040"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"Costello syndrome, MIM# 218040"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/HRAS"	""	"16329078, 16372351, 16443854"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.5173"	"2020-11-09"
"GENCC_000111-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"OMIM:609942"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3, MIM# 609942;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/KRAS"	""	"16474404, 16474405, 16773572, 17056636, 21797849"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6407.1"	"2020-11-09"
"GENCC_000111-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"OMIM:615278"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2, MIM# 615278"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/KRAS"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6407.2"	"2020-11-09"
"GENCC_000111-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"OMIM:616564"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/LZTR1"	""	"25795793, 29469822, 30368668, 30481304, 24362817"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6742.1"	"2020-11-09"
"GENCC_000111-HGNC_6742-OMIM_605275-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0011531"	"Noonan syndrome 2"	"OMIM:605275"	"OMIM:605275"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6742"	"LZTR1"	"OMIM:605275"	"Noonan syndrome 2"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/LZTR1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6742.2"	"2020-11-09"
"GENCC_000111-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100001"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"OMIM:615279"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3, MIM# 615279"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MAP2K1"	""	"16439621, 17551924, 18042262, 20301365"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6840"	"2020-11-09"
"GENCC_000111-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100001"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"OMIM:615280"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4, MIM# 615280"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MAP2K2"	""	"20358587, 16439621, 18042262"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6842"	"2020-11-09"
"GENCC_000111-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100002"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"OMIM:618499"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MRAS"	""	"28289718"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7227"	"2020-11-09"
"GENCC_000111-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"OMIM:162200"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7765"	"NF1"	"OMIM:162200"	"Neurofibromatosis, type 1, MIM# 162200;Neurofibromatosis-Noonan syndrome, MIM# 601321"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NF1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7765.1"	"2020-11-09"
"GENCC_000111-HGNC_7765-OMIM_601321-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"OMIM:601321"	"OMIM:601321"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7765"	"NF1"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome, MIM# 601321"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NF1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7765.2"	"2020-11-09"
"GENCC_000111-HGNC_7989-OMIM_613224-HP_0000006-GENCC_100001"	"HGNC:7989"	"NRAS"	"MONDO:0013186"	"Noonan syndrome 6"	"OMIM:613224"	"OMIM:613224"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7989"	"NRAS"	"OMIM:613224"	"Noonan syndrome 6, MIM# 613224"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NRAS"	""	"19966803, 26467218, 28594414"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7989"	"2020-11-09"
"GENCC_000111-HGNC_9282-OMIM_617506-HP_0000006-GENCC_100002"	"HGNC:9282"	"PPP1CB"	"MONDO:0054588"	"Noonan syndrome-like disorder with loose anagen hair 2"	"OMIM:617506"	"OMIM:617506"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9282"	"PPP1CB"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2;OMIM # 617506"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PPP1CB"	""	" 32476286, 28211982, 27264673, 27681385, 27868344"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9282"	"2020-11-09"
"GENCC_000111-HGNC_9644-OMIM_151100-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0100082"	"LEOPARD syndrome 1"	"OMIM:151100"	"OMIM:151100"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9644"	"PTPN11"	"OMIM:151100"	"LEOPARD syndrome 1, 151100 AD (Noonan syndrome with multiple lentigines);"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PTPN11"	""	"11992261, 21533187, 24935154"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9644.1"	"2020-11-09"
"GENCC_000111-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"OMIM:163950"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1, 163950 AD"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PTPN11"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9644.2"	"2020-11-09"
"GENCC_000111-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100001"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"OMIM:611553"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5, MIM# 611553"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RAF1"	""	"17603483, 17603482, 31145547, 31030682, 29271604"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9829"	"2020-11-09"
"GENCC_000111-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100002"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"OMIM:615355"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"Noonan syndrome 8, MIM# 615355"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RIT1"	""	"23791108, 25124994, 24939608, 27101134"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.10023"	"2020-11-09"
"GENCC_000111-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100002"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"OMIM:618624"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"Noonan syndrome 12 OMIM #618624"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RRAS2"	""	"31130282"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.17271"	"2020-11-09"
"GENCC_000111-HGNC_15454-OMIM_607721-HP_0000006-GENCC_100002"	"HGNC:15454"	"SHOC2"	"MONDO:0054637"	"Noonan syndrome-like disorder with loose anagen hair 1"	"OMIM:607721"	"OMIM:607721"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15454"	"SHOC2"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1, MIM# 607721"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SHOC2"	""	"19684605, 23918763, 20882035"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.15454"	"2020-11-09"
"GENCC_000111-HGNC_11187-OMIM_610733-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0012547"	"Noonan syndrome 4"	"OMIM:610733"	"OMIM:610733"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11187"	"SOS1"	"OMIM:610733"	"Noonan syndrome 4, MIM# 610733"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SOS1"	""	"17143285, 17143282, 28884940, 17586837"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.11187"	"2020-11-09"
"GENCC_000111-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100002"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"OMIM:616559"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9, MIM# 616559"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SOS2"	""	"25795793, 32788663, 26173643"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.11188"	"2020-11-09"
"GENCC_000111-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100002"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"OMIM:611431"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome, MIM# 611431"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SPRED1"	""	"17704776, 19366998, 21548021"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.20249"	"2020-11-09"
"GENCC_000111-HGNC_15868-OMIM_612674-HP_0000007-GENCC_100002"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"OMIM:612674"	"OMIM:612674"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15868"	"ABHD12"	"OMIM:612674"	"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ABHD12"	""	"20797687, 24697911"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15868"	"2020-11-09"
"GENCC_000111-HGNC_119-OMIM_618960-HP_0000006-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0030073"	"Mitchell syndrome"	"OMIM:618960"	"OMIM:618960"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:119"	"ACOX1"	"OMIM:618960"	"Mitchell syndrome, MIM# 618960"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACOX1"	""	"32169171"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.119"	"2020-11-09"
"GENCC_000111-HGNC_132-OMIM_243310-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0009470"	"Baraitser-Winter syndrome 1"	"OMIM:243310"	"OMIM:243310"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:132"	"ACTB"	"OMIM:243310"	"Baraitser-Winter syndrome 1 (MIM#243310)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"29671837, 22366783"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.132"	"2021-03-09"
"GENCC_000111-HGNC_132-OMIM_607371-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"OMIM:607371"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:132"	"ACTB"	"OMIM:607371"	"Deafness-dystonia syndrome"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACTB"	""	"25052316, 29788902"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.132.2"	"2020-11-09"
"GENCC_000111-HGNC_144-OMIM_604717-HP_0000006-GENCC_100002"	"HGNC:144"	"ACTG1"	"MONDO:0011480"	"autosomal dominant nonsyndromic hearing loss 20"	"OMIM:604717"	"OMIM:604717"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:144"	"ACTG1"	"OMIM:604717"	"Deafness, autosomal dominant 20/26, MIM# 604717"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACTG1"	""	"13680526, 14684684, 16773128, 19477959, 19497859"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.144"	"2020-11-09"
"GENCC_000111-HGNC_17416-OMIM_605472-HP_0000007-GENCC_100002"	"HGNC:17416"	"ADGRV1"	"MONDO:0011558"	"Usher syndrome type 2C"	"OMIM:605472"	"OMIM:605472"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17416"	"ADGRV1"	"OMIM:605472"	"Usher syndrome, type 2C, MIM# 605472"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ADGRV1"	""	"22147658, 25572244, 14740321"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17416"	"2020-11-09"
"GENCC_000111-HGNC_8768-OMIM_300614-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"OMIM:300614"	"OMIM:300614"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8768"	"AIFM1"	"OMIM:300614"	"Deafness, X-linked 5, MIM# 300614"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/AIFM1"	""	"25986071"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8768"	"2020-11-09"
"GENCC_000111-HGNC_428-OMIM_203800-HP_0000007-GENCC_100002"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"OMIM:203800"	"OMIM:203800"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:428"	"ALMS1"	"OMIM:203800"	"Alstrom syndrome, MIM# 203800"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ALMS1"	""	"11941369, 17594715"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.428"	"2020-11-09"
"GENCC_000111-HGNC_554-OMIM_242150-HP_0000007-GENCC_100002"	"HGNC:554"	"AP1B1"	"MONDO:0009440"	"ichthyosiform erythroderma, corneal involvement, and hearing loss"	"OMIM:242150"	"OMIM:242150"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:554"	"AP1B1"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM#	242150"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/AP1B1"	""	"31630788, 31630791"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.554"	"2020-11-09"
"GENCC_000111-HGNC_815-OMIM_601386-HP_0000006-GENCC_100002"	"HGNC:815"	"ATP2B2"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"OMIM:601386"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:815"	"ATP2B2"	"OMIM:601386"	"Dominant progressive sensorineural deafness, MIM# 601386"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ATP2B2"	""	"30535804"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.815"	"2020-11-09"
"GENCC_000111-HGNC_853-OMIM_267300-HP_0000007-GENCC_100002"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"OMIM:267300"	"OMIM:267300"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:853"	"ATP6V1B1"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ATP6V1B1"	""	"9916796, 12414817, 16611712, 18798332"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.853"	"2020-11-09"
"GENCC_000111-HGNC_16695-OMIM_300475-HP_0001417-GENCC_100002"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"OMIM:300475"	"OMIM:300475"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16695"	"BCAP31"	"OMIM:300475"	"Deafness, dystonia, and cerebral hypomyelination, MIM# 300475"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCAP31"	""	"24011989, 31330203, 28332767"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16695"	"2020-11-09"
"GENCC_000111-HGNC_1020-OMIM_262000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"OMIM:262000"	"OMIM:262000"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1020"	"BCS1L"	"OMIM:262000"	"Bjornstad syndrome, MIM# 262000"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCS1L"	""	"26563427, 24172246, 17314340"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1020.1"	"2020-11-09"
"GENCC_000111-HGNC_1020-OMIM_256000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1020"	"BCS1L"	"OMIM:256000"	"Leigh syndrome, MIM# 256000"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCS1L"	""	"26563427, 24172246, 17314340"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1020.2"	"2020-11-09"
"GENCC_000111-HGNC_16512-OMIM_602522-HP_0000007-GENCC_100002"	"HGNC:16512"	"BSND"	"MONDO:0011242"	"Bartter disease type 4A"	"OMIM:602522"	"OMIM:602522"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16512"	"BSND"	"OMIM:602522"	"Sensorineural deafness with mild renal dysfunction, MIM# 602522;Bartter syndrome, type 4a, MIM# 602522"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BSND"	""	"19646679"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16512"	"2020-11-09"
"GENCC_000111-HGNC_1385-OMIM_614899-HP_0000007-GENCC_100002"	"HGNC:1385"	"CABP2"	"MONDO:0013963"	"autosomal recessive nonsyndromic hearing loss 93"	"OMIM:614899"	"OMIM:614899"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1385"	"CABP2"	"OMIM:614899"	"Deafness, autosomal recessive 93, MIM# 614899"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CABP2"	""	"22981119, 31661684, 28183797"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1385"	"2020-11-09"
"GENCC_000111-HGNC_18111-OMIM_607453-HP_0000006-GENCC_100002"	"HGNC:18111"	"CCDC50"	"MONDO:0011832"	"autosomal dominant nonsyndromic hearing loss 44"	"OMIM:607453"	"OMIM:607453"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18111"	"CCDC50"	"OMIM:607453"	"Deafness, autosomal dominant 44, MIM# 607453"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CCDC50"	""	"17503326, 27911912, 24875298"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18111"	"2020-11-09"
"GENCC_000111-HGNC_1718-OMIM_608653-HP_0000007-GENCC_100002"	"HGNC:1718"	"CDC14A"	"MONDO:0012091"	"autosomal recessive nonsyndromic hearing loss 32"	"OMIM:608653"	"OMIM:608653"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1718"	"CDC14A"	"OMIM:608653"	"Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDC14A"	""	"29293958, 27259055"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1718"	"2020-11-09"
"GENCC_000111-HGNC_13733-OMIM_601067-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0010984"	"Usher syndrome type 1D"	"OMIM:601067"	"OMIM:601067"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13733"	"CDH23"	"OMIM:601067"	"Usher syndrome, type 1D (MIM# 601067)"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDH23"	""	"11138009, 25468891, 21940737"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13733.1"	"2020-11-09"
"GENCC_000111-HGNC_13733-OMIM_601386-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"OMIM:601386"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13733"	"CDH23"	"OMIM:601386"	"Deafness, autosomal recessive 12 (MIM # 601386)"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDH23"	""	"11138009, 25468891, 21940737"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13733.2"	"2020-11-09"
"GENCC_000111-HGNC_31948-OMIM_614614-HP_0000006-GENCC_100003"	"HGNC:31948"	"CEACAM16"	"MONDO:0013823"	"autosomal dominant nonsyndromic hearing loss 4B"	"OMIM:614614"	"OMIM:614614"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31948"	"CEACAM16"	"OMIM:614614"	"Deafness, autosomal dominant 4B, MIM# 614614"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEACAM16"	""	"21368133, 22544735, 29703829, 25589040, 31249509, 30514912"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31948.1"	"2020-11-09"
"GENCC_000111-HGNC_31948-OMIM_618410-HP_0000007-GENCC_100002"	"HGNC:31948"	"CEACAM16"	"MONDO:0032732"	"hearing loss, autosomal recessive 113"	"OMIM:618410"	"OMIM:618410"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31948"	"CEACAM16"	"OMIM:618410"	"Deafness, autosomal recessive 113, MIM# 618410"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEACAM16"	""	"21368133, 22544735, 29703829, 25589040, 31249509, 30514912"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31948.2"	"2020-11-09"
"GENCC_000111-HGNC_1859-OMIM_618358-HP_0000007-GENCC_100002"	"HGNC:1859"	"CEP250"	"MONDO:0020780"	"cone-rod dystrophy and hearing loss 2"	"OMIM:618358"	"OMIM:618358"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1859"	"CEP250"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2, MIM# 618358"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEP250"	""	"24780881, 29718797, 30459346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1859"	"2020-11-09"
"GENCC_000111-HGNC_25740-OMIM_617236-HP_0000007-GENCC_100002"	"HGNC:25740"	"CEP78"	"MONDO:0020778"	"cone-rod dystrophy and hearing loss 1"	"OMIM:617236"	"OMIM:617236"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25740"	"CEP78"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss, MIM#617236"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEP78"	""	"28005958, 27588451, 27588452, 27627988"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25740"	"2020-11-09"
"GENCC_000111-HGNC_20626-OMIM_214800-HP_0000006-GENCC_100002"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"OMIM:214800"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20626"	"CHD7"	"OMIM:214800"	"CHARGE syndrome, MIM# 214800"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CHD7"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20626"	"2020-11-09"
"GENCC_000111-HGNC_24579-OMIM_609439-HP_0000007-GENCC_100002"	"HGNC:24579"	"CIB2"	"MONDO:0012273"	"autosomal recessive nonsyndromic hearing loss 48"	"OMIM:609439"	"OMIM:609439"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24579"	"CIB2"	"OMIM:609439"	"Deafness, autosomal recessive 48, MIM# 609439"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CIB2"	""	"23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24579"	"2020-11-09"
"GENCC_000111-HGNC_24212-OMIM_604928-HP_0000007-GENCC_100002"	"HGNC:24212"	"CISD2"	"MONDO:0011502"	"Wolfram syndrome 2"	"OMIM:604928"	"OMIM:604928"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24212"	"CISD2"	"OMIM:604928"	"Wolfram syndrome 2, MIM# 604928"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CISD2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24212"	"2020-11-09"
"GENCC_000111-HGNC_2035-OMIM_614035-HP_0000007-GENCC_100002"	"HGNC:2035"	"CLDN14"	"MONDO:0013537"	"autosomal recessive nonsyndromic hearing loss 29"	"OMIM:614035"	"OMIM:614035"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2035"	"CLDN14"	"OMIM:614035"	"Deafness, autosomal recessive 29, MIM# 614035"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLDN14"	""	"11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2035"	"2020-11-09"
"GENCC_000111-HGNC_2084-OMIM_614129-HP_0000007-GENCC_100002"	"HGNC:2084"	"CLPP"	"MONDO:0013588"	"Perrault syndrome 3"	"OMIM:614129"	"OMIM:614129"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2084"	"CLPP"	"OMIM:614129"	"Perrault syndrome 3, MIM# 614129"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLPP"	""	"23541340, 27087618, 27899912, 25254289, 23851121"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2084"	"2020-11-09"
"GENCC_000111-HGNC_12605-OMIM_276902-HP_0000007-GENCC_100002"	"HGNC:12605"	"CLRN1"	"MONDO:0010170"	"Usher syndrome type 3A"	"OMIM:276902"	"OMIM:276902"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12605"	"CLRN1"	"OMIM:276902"	"Usher syndrome, type 3A, MIM# 276902"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLRN1"	""	"11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12605"	"2020-11-09"
"GENCC_000111-HGNC_2186-OMIM_604841-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0011493"	"Stickler syndrome type 2"	"OMIM:604841"	"OMIM:604841"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2186"	"COL11A1"	"OMIM:604841"	"Stickler syndrome, type II, MIM# 604841"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2186"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_601868-HP_0000006-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0011159"	"autosomal dominant nonsyndromic hearing loss 13"	"OMIM:601868"	"OMIM:601868"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:601868"	"Deafness, autosomal dominant 13, MIM# 601868"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.1"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_609706-HP_0000007-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0012333"	"autosomal recessive nonsyndromic hearing loss 53"	"OMIM:609706"	"OMIM:609706"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:609706"	"Deafness, autosomal recessive 53, MIM# 609706"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.2"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_184840-HP_0000006-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"OMIM:184840"	"OMIM:184840"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.3"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_215150-HP_0000007-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"OMIM:215150"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.4"	"2020-11-09"
"GENCC_000111-HGNC_2200-OMIM_108300-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"OMIM:108300"	"OMIM:108300"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2200"	"COL2A1"	"OMIM:108300"	"Stickler syndrome, type I, MIM# 108300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2200"	"2021-01-21"
"GENCC_000111-HGNC_2207-OMIM_301050-HP_0001417-GENCC_100002"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"OMIM:301050"	"OMIM:301050"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2207"	"COL4A5"	"OMIM:301050"	"Alport syndrome 1, X-linked, MIM# 301050"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL4A5"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2207"	"2020-11-09"
"GENCC_000111-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100002"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"OMIM:614134"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"Stickler syndrome, type IV, MIM# 614134"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"16909383, 21421862, 31090205"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2217"	"2021-01-21"
"GENCC_000111-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"OMIM:614284"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"Stickler syndrome, type V, MIM# 614284"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"21671392, 31090205, 33356723"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2218"	"2021-01-21"
"GENCC_000111-HGNC_2876-OMIM_124900-HP_0000006-GENCC_100002"	"HGNC:2876"	"DIAPH1"	"MONDO:0007424"	"autosomal dominant nonsyndromic hearing loss 1"	"OMIM:124900"	"OMIM:124900"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2876"	"DIAPH1"	"OMIM:124900"	"Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIAPH1"	""	"24781755, 27707755, 27808407, 28003573, 28815995"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2876"	"2020-11-09"
"GENCC_000111-HGNC_2938-OMIM_617605-HP_0000006-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0033258"	"hearing loss, autosomal dominant 71"	"OMIM:617605"	"OMIM:617605"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2938"	"DMXL2"	"OMIM:617605"	"Deafness, autosomal dominant 71, MIM#617605"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DMXL2"	""	"27657680, 22875945, 31688942"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2938.1"	"2020-11-09"
"GENCC_000111-HGNC_2938-OMIM_618663-HP_0000007-GENCC_100002"	"HGNC:2938"	"DMXL2"	"MONDO:0032858"	"developmental and epileptic encephalopathy, 81"	"OMIM:618663"	"OMIM:618663"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2938"	"DMXL2"	"OMIM:618663"	"Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DMXL2"	""	"27657680, 22875945, 31688942"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2938.2"	"2020-11-09"
"GENCC_000111-HGNC_2976-OMIM_604121-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"OMIM:604121"	"OMIM:604121"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2976"	"DNMT1"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DNMT1"	""	"22328086, 21532572, 31984424"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2976.1"	"2020-11-09"
"GENCC_000111-HGNC_2976-OMIM_614116-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0013584"	"hereditary sensory neuropathy-deafness-dementia syndrome"	"OMIM:614116"	"OMIM:614116"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2976"	"DNMT1"	"OMIM:614116"	"Neuropathy, hereditary sensory, type IE, 614116"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DNMT1"	""	"22328086, 21532572, 31984424"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2976.2"	"2020-11-09"
"GENCC_000111-HGNC_3178-OMIM_613265-HP_0000006-GENCC_100002"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"OMIM:613265"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B, MIM# 613265"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDN3"	""	"8630502, 11303518, 19764030"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3178.1"	"2020-11-09"
"GENCC_000111-HGNC_3178-OMIM_613265-HP_0000007-GENCC_100002"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"OMIM:613265"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B, MIM# 613265"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDN3"	""	"8630502, 11303518, 19764030"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3178.2"	"2020-11-09"
"GENCC_000111-HGNC_3180-OMIM_277580-HP_0000006-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"OMIM:277580"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome, type 4A, MIM# 277580"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDNRB"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3180.1"	"2020-11-09"
"GENCC_000111-HGNC_3180-OMIM_277580-HP_0000007-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"OMIM:277580"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome, type 4A, MIM# 277580"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDNRB"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3180.2"	"2020-11-09"
"GENCC_000111-HGNC_3420-OMIM_615974-HP_0000007-GENCC_100002"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"OMIM:615974"	"OMIM:615974"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3420"	"EPS8"	"OMIM:615974"	"Deafness, autosomal recessive 102, MIM# 615974"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EPS8"	""	"24741995"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3420"	"2020-11-09"
"GENCC_000111-HGNC_21296-OMIM_617637-HP_0000007-GENCC_100002"	"HGNC:21296"	"EPS8L2"	"MONDO:0033198"	"hearing loss, autosomal recessive 106"	"OMIM:617637"	"OMIM:617637"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21296"	"EPS8L2"	"OMIM:617637"	"Deafness autosomal recessive 106, MIM# 617637"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EPS8L2"	""	"26282398, 23918390, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21296"	"2020-11-09"
"GENCC_000111-HGNC_13281-OMIM_609006-HP_0000006-GENCC_100002"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"OMIM:609006"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, autosomal recessive 36, MIM# 609006"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESPN"	""	"15286153, 18973245, 26445815, 28281779, 10975527, 15930085"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13281.1"	"2020-11-09"
"GENCC_000111-HGNC_13281-OMIM_609006-HP_0000007-GENCC_100004"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"OMIM:609006"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESPN"	""	"15286153, 18973245, 26445815, 28281779, 10975527, 15930085"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13281.2"	"2020-11-09"
"GENCC_000111-HGNC_3473-OMIM_608565-HP_0000007-GENCC_100002"	"HGNC:3473"	"ESRRB"	"MONDO:0012060"	"autosomal recessive nonsyndromic hearing loss 35"	"OMIM:608565"	"OMIM:608565"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3473"	"ESRRB"	"OMIM:608565"	"Deafness, autosomal recessive 35, MIM#608565"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESRRB"	""	"18179891, 31389194, 32681043"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3473"	"2020-11-09"
"GENCC_000111-HGNC_3519-OMIM_602588-HP_0000006-GENCC_100002"	"HGNC:3519"	"EYA1"	"MONDO:0011258"	"branchiootic syndrome 1"	"OMIM:602588"	"OMIM:602588"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3519"	"EYA1"	"OMIM:602588"	"Branchiootic syndrome 1, MIM# 602588"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EYA1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3519"	"2020-11-09"
"GENCC_000111-HGNC_3522-OMIM_601316-HP_0000006-GENCC_100002"	"HGNC:3522"	"EYA4"	"MONDO:0011031"	"autosomal dominant nonsyndromic hearing loss 10"	"OMIM:601316"	"OMIM:601316"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3522"	"EYA4"	"OMIM:601316"	"Deafness, autosomal dominant 10, MIM# 601316"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EYA4"	""	"11159937,  17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3522"	"2020-11-09"
"GENCC_000111-HGNC_3642-OMIM_617717-HP_0000007-GENCC_100002"	"HGNC:3642"	"FDXR"	"MONDO:0060582"	"auditory neuropathy-optic atrophy syndrome"	"OMIM:617717"	"OMIM:617717"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3642"	"FDXR"	"OMIM:617717"	"Auditory neuropathy and optic atrophy, MIM# 617717"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FDXR"	""	"28965846"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3642"	"2020-11-09"
"GENCC_000111-HGNC_3681-OMIM_610706-HP_0000007-GENCC_100002"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"OMIM:610706"	"OMIM:610706"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3681"	"FGF3"	"OMIM:610706"	"Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FGF3"	""	"21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3681"	"2020-11-09"
"GENCC_000111-HGNC_16135-OMIM_618635-HP_0000007-GENCC_100002"	"HGNC:16135"	"FITM2"	"MONDO:0032842"	"Siddiqi syndrome"	"OMIM:618635"	"OMIM:618635"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16135"	"FITM2"	"OMIM:618635"	"Siddiqi syndrome MIM#618635"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FITM2"	""	"28067622, 30214770, 30288795"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16135"	"2020-11-09"
"GENCC_000111-HGNC_3815-OMIM_600791-HP_0000007-GENCC_100002"	"HGNC:3815"	"FOXI1"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"OMIM:600791"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3815"	"FOXI1"	"OMIM:600791"	"Enlarged vestibular aqueduct, MIM# 600791"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FOXI1"	""	"29242249, 9843211, 17503324"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3815"	"2020-11-09"
"GENCC_000111-HGNC_4172-OMIM_146255-HP_0000006-GENCC_100002"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"OMIM:146255"	"OMIM:146255"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4172"	"GATA3"	"OMIM:146255"	"Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GATA3"	""	"10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4172"	"2020-11-09"
"GENCC_000111-HGNC_18183-OMIM_601869-HP_0000007-GENCC_100002"	"HGNC:18183"	"GIPC3"	"MONDO:0011160"	"autosomal recessive nonsyndromic hearing loss 15"	"OMIM:601869"	"OMIM:601869"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18183"	"GIPC3"	"OMIM:601869"	"Deafness, autosomal recessive 15, MIM# 601869"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GIPC3"	""	"21326233, 21660509"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18183"	"2020-11-09"
"GENCC_000111-HGNC_4284-OMIM_220290-HP_0000007-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"OMIM:220290"	"OMIM:220290"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4284"	"GJB2"	"OMIM:220290"	"Deafness, autosomal recessive 1A, MIM#220290"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB2"	""	"9529365, 14985372, 19941053, 11354642"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4284"	"2020-11-09"
"GENCC_000111-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100002"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"OMIM:604213"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"Chudley-McCullough syndrome, MIM# 604213"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GPSM2"	""	"20602914, 22578326, 28387217, 27180139, 27064331"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29501"	"2020-11-09"
"GENCC_000111-HGNC_2799-OMIM_608641-HP_0000006-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0012083"	"autosomal dominant nonsyndromic hearing loss 28"	"OMIM:608641"	"OMIM:608641"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2799"	"GRHL2"	"OMIM:608641"	"Deafness, autosomal dominant 28, MIM# 608641"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRHL2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2799"	"2020-11-09"
"GENCC_000111-HGNC_31673-OMIM_613285-HP_0000007-GENCC_100002"	"HGNC:31673"	"GRXCR1"	"MONDO:0013210"	"autosomal recessive nonsyndromic hearing loss 25"	"OMIM:613285"	"OMIM:613285"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31673"	"GRXCR1"	"OMIM:613285"	"Deafness, autosomal recessive 25, MIM# 613285"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRXCR1"	""	"20137778, 25802247, 26226137, 26445815, 26969326, 20137774"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31673"	"2020-11-09"
"GENCC_000111-HGNC_4796-OMIM_617660-HP_0000007-GENCC_100002"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"OMIM:617660"	"OMIM:617660"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4796"	"HAAO"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HAAO"	""	"28792876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4796"	"2020-11-09"
"GENCC_000111-HGNC_4817-OMIM_614926-HP_0000007-GENCC_100002"	"HGNC:4817"	"HARS2"	"MONDO:0013972"	"Perrault syndrome 2"	"OMIM:614926"	"OMIM:614926"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4817"	"HARS2"	"OMIM:614926"	"Perrault syndrome 2, MIM# 614926"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HARS2"	""	"21464306, 27650058, 31827252, 31486067"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4817"	"2020-11-09"
"GENCC_000111-HGNC_4893-OMIM_608265-HP_0000005-GENCC_100002"	"HGNC:4893"	"HGF"	"MONDO:0012003"	"autosomal recessive nonsyndromic hearing loss 39"	"OMIM:608265"	"OMIM:608265"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4893"	"HGF"	"OMIM:608265"	"Deafness, autosomal recessive 39, MIM# 608265"	"HP:0000005"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HGF"	""	"19576567, 27488639"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4893"	"2020-11-09"
"GENCC_000111-HGNC_17513-OMIM_616707-HP_0000006-GENCC_100002"	"HGNC:17513"	"HOMER2"	"MONDO:0014740"	"autosomal dominant nonsyndromic hearing loss 68"	"OMIM:616707"	"OMIM:616707"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17513"	"HOMER2"	"OMIM:616707"	"Deafness, autosomal dominant 68, MIM# 616707"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOMER2"	""	"25816005, 30047143, 25816005"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17513"	"2020-11-09"
"GENCC_000111-HGNC_5103-OMIM_612290-HP_0000006-GENCC_100002"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"OMIM:612290"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment, MIM# 612290"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOXA2"	""	"18394579, 23775976, 27503514, 32649979, 31567444"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5103.1"	"2020-11-09"
"GENCC_000111-HGNC_5103-OMIM_612290-HP_0000007-GENCC_100004"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"OMIM:612290"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment, MIM# 612290"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOXA2"	""	"18394579, 23775976, 27503514, 32649979, 31567444"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5103.2"	"2020-11-09"
"GENCC_000111-HGNC_5213-OMIM_233400-HP_0000007-GENCC_100002"	"HGNC:5213"	"HSD17B4"	"MONDO:0009300"	"Perrault syndrome 1"	"OMIM:233400"	"OMIM:233400"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5213"	"HSD17B4"	"OMIM:233400"	"Perrault syndrome 1, MIM# 233400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HSD17B4"	""	"24553428, 23181892, 20673864"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5213"	"2020-11-09"
"GENCC_000111-HGNC_28741-OMIM_609646-HP_0000007-GENCC_100002"	"HGNC:28741"	"ILDR1"	"MONDO:0012326"	"autosomal recessive nonsyndromic hearing loss 42"	"OMIM:609646"	"OMIM:609646"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28741"	"ILDR1"	"OMIM:609646"	"Deafness, autosomal recessive 42, MIM# 609646"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ILDR1"	""	"21255762, 23226338, 22903915, 27344577, 21255762, 23239027, 25822906, 25819842, 24990150"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.28741"	"2020-11-09"
"GENCC_000111-HGNC_6240-OMIM_612347-HP_0000007-GENCC_100002"	"HGNC:6240"	"KCNE1"	"MONDO:0012871"	"Jervell and Lange-Nielsen syndrome 2"	"OMIM:612347"	"OMIM:612347"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6240"	"KCNE1"	"OMIM:612347"	"Jervell and Lange-Nielsen syndrome 2, MIM# 612347"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNE1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6240"	"2020-11-09"
"GENCC_000111-HGNC_6256-OMIM_612780-HP_0000007-GENCC_100002"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"OMIM:612780"	"OMIM:612780"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6256"	"KCNJ10"	"OMIM:612780"	"SESAME syndrome, MIM# 612780"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNJ10"	""	"21849804, 19289823"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6256"	"2020-11-09"
"GENCC_000111-HGNC_6294-OMIM_220400-HP_0000007-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0024540"	"Jervell and Lange-Nielsen syndrome 1"	"OMIM:220400"	"OMIM:220400"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6294"	"KCNQ1"	"OMIM:220400"	"Jervell and Lange-Nielsen syndrome, MIM# 220400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNQ1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6294"	"2020-11-09"
"GENCC_000111-HGNC_6298-OMIM_600101-HP_0000006-GENCC_100002"	"HGNC:6298"	"KCNQ4"	"MONDO:0010817"	"autosomal dominant nonsyndromic hearing loss 2A"	"OMIM:600101"	"OMIM:600101"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6298"	"KCNQ4"	"OMIM:600101"	"Deafness, autosomal dominant 2A, MIM# 600101"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNQ4"	""	"10369879"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6298"	"2020-11-09"
"GENCC_000111-HGNC_6342-OMIM_172800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"OMIM:172800"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6342"	"KIT"	"OMIM:172800"	"Piebaldism, MIM# 172800"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KIT"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6342"	"2020-11-09"
"GENCC_000111-HGNC_17095-OMIM_615300-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0014126"	"Perrault syndrome 4"	"OMIM:615300"	"OMIM:615300"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17095"	"LARS2"	"OMIM:615300"	"Perrault syndrome 4, MIM#615300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LARS2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17095"	"2020-11-09"
"GENCC_000111-HGNC_21253-OMIM_610265-HP_0000007-GENCC_100002"	"HGNC:21253"	"LHFPL5"	"MONDO:0012460"	"autosomal recessive nonsyndromic hearing loss 67"	"OMIM:610265"	"OMIM:610265"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21253"	"LHFPL5"	"OMIM:610265"	"Deafness, autosomal recessive 67, MIM# 610265"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LHFPL5"	""	"16459341, 16752389, 21816241, 19888295, 26437881, 26029705, 15905332, 19102128, 25550511"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21253"	"2020-11-09"
"GENCC_000111-HGNC_6595-OMIM_221750-HP_0000007-GENCC_100002"	"HGNC:6595"	"LHX3"	"MONDO:0009091"	"non-acquired combined pituitary hormone deficiency with spine abnormalities"	"OMIM:221750"	"OMIM:221750"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6595"	"LHX3"	"OMIM:221750"	"Pituitary hormone deficiency, combined, 3, MIM# 221750"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LHX3"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6595"	"2020-11-09"
"GENCC_000111-HGNC_6653-OMIM_601412-HP_0000006-GENCC_100002"	"HGNC:6653"	"LMX1A"	"MONDO:0011074"	"autosomal dominant nonsyndromic hearing loss 7"	"OMIM:601412"	"OMIM:601412"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6653"	"LMX1A"	"OMIM:601412"	"Deafness, autosomal dominant 7 MIM#601412"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LMX1A"	""	"29754270, 29971487, 32840933"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6653.1"	"2020-11-09"
"GENCC_000111-HGNC_26521-OMIM_613079-HP_0000007-GENCC_100002"	"HGNC:26521"	"LOXHD1"	"MONDO:0013119"	"autosomal recessive nonsyndromic hearing loss 77"	"OMIM:613079"	"OMIM:613079"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26521"	"LOXHD1"	"OMIM:613079"	"Deafness, autosomal recessive 77, MIM# 613079"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LOXHD1"	""	"19732867, 25792669"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26521"	"2020-11-09"
"GENCC_000111-HGNC_25033-OMIM_611451-HP_0000007-GENCC_100002"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"OMIM:611451"	"OMIM:611451"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25033"	"LRTOMT"	"OMIM:611451"	"Deafness, autosomal recessive 63, MIM# 611451"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LRTOMT"	""	"18953341, 18794526, 21739586, 18794526"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25033"	"2020-11-09"
"GENCC_000111-HGNC_26401-OMIM_610153-HP_0000007-GENCC_100002"	"HGNC:26401"	"MARVELD2"	"MONDO:0012420"	"autosomal recessive nonsyndromic hearing loss 49"	"OMIM:610153"	"OMIM:610153"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26401"	"MARVELD2"	"OMIM:610153"	"Deafness, autosomal recessive 49, MIM# 610153"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MARVELD2"	""	"17186462, 18084694, 22903915, 27344577, 26677943, 23979167"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26401"	"2020-11-09"
"GENCC_000111-HGNC_6901-OMIM_257920-HP_0000007-GENCC_100002"	"HGNC:6901"	"MASP1"	"MONDO:0009770"	"3MC syndrome 1"	"OMIM:257920"	"OMIM:257920"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6901"	"MASP1"	"OMIM:257920"	"3MC syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"7677137, 21258343"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.6901"	"2020-11-09"
"GENCC_000111-HGNC_7105-OMIM_193510-HP_0000006-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0008671"	"Waardenburg syndrome type 2A"	"OMIM:193510"	"OMIM:193510"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7105"	"MITF"	"OMIM:193510"	"Waardenburg syndrome, type 2A, MIM# 193510"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MITF"	""	"7874167, 23512835, 27759048, 28356565, 9499424, 27349893"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7105"	"2020-11-09"
"GENCC_000111-HGNC_3496-OMIM_618145-HP_0000007-GENCC_100002"	"HGNC:3496"	"MPZL2"	"MONDO:0029142"	"hearing loss, autosomal recessive 111"	"OMIM:618145"	"OMIM:618145"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3496"	"MPZL2"	"OMIM:618145"	"Deafness, autosomal recessive 111, MIM#618145"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MPZL2"	""	"29982980, 29961571"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3496"	"2020-11-09"
"GENCC_000111-HGNC_27375-OMIM_613718-HP_0000005-GENCC_100002"	"HGNC:27375"	"MSRB3"	"MONDO:0013386"	"autosomal recessive nonsyndromic hearing loss 74"	"OMIM:613718"	"OMIM:613718"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000111"	"PanelApp Australia"	"HGNC:27375"	"MSRB3"	"OMIM:613718"	"Deafness, autosomal recessive 74, MIM# 613718"	"HP:0000005"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MSRB3"	""	"19650862, 24191262, 21185009"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.27375"	"2020-11-09"
"GENCC_000111-HGNC_23212-OMIM_600652-HP_0000006-GENCC_100002"	"HGNC:23212"	"MYH14"	"MONDO:0010915"	"autosomal dominant nonsyndromic hearing loss 4A"	"OMIM:600652"	"OMIM:600652"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23212"	"MYH14"	"OMIM:600652"	"Deafness, autosomal dominant 4A, MIM# 600652"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYH14"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23212"	"2020-11-09"
"GENCC_000111-HGNC_7594-OMIM_600316-HP_0000007-GENCC_100002"	"HGNC:7594"	"MYO15A"	"MONDO:0010860"	"autosomal recessive nonsyndromic hearing loss 3"	"OMIM:600316"	"OMIM:600316"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7594"	"MYO15A"	"OMIM:600316"	"Deafness, autosomal recessive 3, MIM# 600316"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO15A"	""	"27375115, 26226137, 23208854, 19309289, 9603735, 10915760"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7594"	"2020-11-09"
"GENCC_000111-HGNC_7601-OMIM_607101-HP_0000007-GENCC_100002"	"HGNC:7601"	"MYO3A"	"MONDO:0011774"	"autosomal recessive nonsyndromic hearing loss 30"	"OMIM:607101"	"OMIM:607101"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7601"	"MYO3A"	"OMIM:607101"	"Deafness, autosomal recessive 30, MIM# 607101"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO3A"	""	"21165622, 26754646, 23990876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7601"	"2020-11-09"
"GENCC_000111-HGNC_7605-OMIM_606346-HP_0000006-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011660"	"autosomal dominant nonsyndromic hearing loss 22"	"OMIM:606346"	"OMIM:606346"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7605"	"MYO6"	"OMIM:606346"	"Deafness, autosomal dominant 22, MIM# 606346"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO6"	""	"24105371, 11468689, 25999546, 25227905, 18348273, 27171474"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7605.1"	"2020-11-09"
"GENCC_000111-HGNC_7605-OMIM_607821-HP_0000007-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011912"	"autosomal recessive nonsyndromic hearing loss 37"	"OMIM:607821"	"OMIM:607821"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7605"	"MYO6"	"OMIM:607821"	"Deafness, autosomal recessive 37, MIM# 607821"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO6"	""	"24105371, 11468689, 25999546, 25227905, 18348273, 27171474"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7605.2"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_601317-HP_0000006-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0011032"	"autosomal dominant nonsyndromic hearing loss 11"	"OMIM:601317"	"OMIM:601317"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:601317"	"Deafness, autosomal dominant 11, MIM# 601317"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.1"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_600060-HP_0000007-GENCC_100004"	"HGNC:7606"	"MYO7A"	"MONDO:0010807"	"autosomal recessive nonsyndromic hearing loss 2"	"OMIM:600060"	"OMIM:600060"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:600060"	"Deafness, autosomal recessive 2, 600060"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.2"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_276900-HP_0000007-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0010168"	"Usher syndrome type 1"	"OMIM:276900"	"OMIM:276900"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:276900"	"Usher syndrome, type 1B, MIM# 276900"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.3"	"2020-11-09"
"GENCC_000111-HGNC_26274-OMIM_618434-HP_0000007-GENCC_100004"	"HGNC:26274"	"NARS2"	"MONDO:0032749"	"hearing loss, autosomal recessive 94"	"OMIM:618434"	"OMIM:618434"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26274"	"NARS2"	"OMIM:618434"	"Deafness, autosomal recessive 94, MIM# 618434"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/NARS2"	""	"25807530, 28077841, 30327238, 25385316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26274.1"	"2020-11-09"
"GENCC_000111-HGNC_26274-OMIM_616239-HP_0000007-GENCC_100002"	"HGNC:26274"	"NARS2"	"MONDO:0014547"	"combined oxidative phosphorylation defect type 24"	"OMIM:616239"	"OMIM:616239"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26274"	"NARS2"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24, MIM#616239"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/NARS2"	""	"25807530, 28077841, 30327238, 25385316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26274.2"	"2020-11-09"
"GENCC_000111-HGNC_8140-OMIM_125250-HP_0000006-GENCC_100002"	"HGNC:8140"	"OPA1"	"MONDO:0007429"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"OMIM:125250"	"OMIM:125250"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8140"	"OPA1"	"OMIM:125250"	"Optic atrophy plus syndrome, MIM# 125250"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OPA1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8140"	"2020-11-09"
"GENCC_000111-HGNC_15761-OMIM_616340-HP_0000006-GENCC_100002"	"HGNC:15761"	"OSBPL2"	"MONDO:0014594"	"autosomal dominant nonsyndromic hearing loss 67"	"OMIM:616340"	"OMIM:616340"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15761"	"OSBPL2"	"OMIM:616340"	"Deafness, autosomal dominant 67, MIM# 616340"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OSBPL2"	""	"25077649, 25759012, 31451425, 30894143"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15761"	"2020-11-09"
"GENCC_000111-HGNC_16378-OMIM_607039-HP_0000007-GENCC_100002"	"HGNC:16378"	"OTOA"	"MONDO:0011762"	"autosomal recessive nonsyndromic hearing loss 22"	"OMIM:607039"	"OMIM:607039"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16378"	"OTOA"	"OMIM:607039"	"Deafness, autosomal recessive 22, MIM# 607039"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOA"	""	"11972037, 19888295, 23173898, 16460646, 26029705, 26969326, 23129639"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16378"	"2020-11-09"
"GENCC_000111-HGNC_8516-OMIM_614945-HP_0000007-GENCC_100002"	"HGNC:8516"	"OTOG"	"MONDO:0013985"	"autosomal recessive nonsyndromic hearing loss 18B"	"OMIM:614945"	"OMIM:614945"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8516"	"OTOG"	"OMIM:614945"	"Deafness, autosomal recessive 18B, MIM#614945"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOG"	""	"29800624, 23122587"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8516"	"2020-11-09"
"GENCC_000111-HGNC_26901-OMIM_614944-HP_0000007-GENCC_100002"	"HGNC:26901"	"OTOGL"	"MONDO:0013984"	"autosomal recessive nonsyndromic hearing loss 84B"	"OMIM:614944"	"OMIM:614944"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26901"	"OTOGL"	"OMIM:614944"	"Deafness, autosomal recessive 84B, MIM# 614944"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOGL"	""	"23122586, 23850727, 25829320,  25719458, 28426234"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26901"	"2020-11-09"
"GENCC_000111-HGNC_15459-OMIM_608224-HP_0000006-GENCC_100002"	"HGNC:15459"	"P2RX2"	"MONDO:0011994"	"autosomal dominant nonsyndromic hearing loss 41"	"OMIM:608224"	"OMIM:608224"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15459"	"P2RX2"	"OMIM:608224"	"Deafness, autosomal dominant 41, MIM# 608224"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/P2RX2"	""	"23345450, 24211385"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15459"	"2020-11-09"
"GENCC_000111-HGNC_8615-OMIM_615560-HP_0000007-GENCC_100002"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"OMIM:615560"	"OMIM:615560"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8615"	"PAX1"	"OMIM:615560"	"Otofaciocervical syndrome 2, MIM# 615560"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX1"	""	"23851939, 29681087"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8615"	"2020-11-09"
"GENCC_000111-HGNC_8617-OMIM_193500-HP_0000006-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"OMIM:193500"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"Waardenburg syndrome, type 1, MIM# 193500"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX3"	""	"27759048, 7897628, 28690861, 30314436, 25932447, 7726174, 12949970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8617.1"	"2020-11-09"
"GENCC_000111-HGNC_8617-OMIM_193500-HP_0000007-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"OMIM:193500"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"Waardenburg syndrome, type 1, MIM# 193500"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX3"	""	"27759048, 7897628, 28690861, 30314436, 25932447, 7726174, 12949970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8617.2"	"2020-11-09"
"GENCC_000111-HGNC_8632-OMIM_617641-HP_0000006-GENCC_100002"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"OMIM:617641"	"OMIM:617641"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8632"	"PBX1"	"OMIM:617641"	"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PBX1"	""	"29036646"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8632"	"2020-11-09"
"GENCC_000111-HGNC_14674-OMIM_602083-HP_0000007-GENCC_100002"	"HGNC:14674"	"PCDH15"	"MONDO:0011186"	"Usher syndrome type 1F"	"OMIM:602083"	"OMIM:602083"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14674"	"PCDH15"	"OMIM:602083"	"Usher syndrome, type 1F, MIM# 602083"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PCDH15"	""	"11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14674.1"	"2020-11-09"
"GENCC_000111-HGNC_14674-OMIM_609533-HP_0000007-GENCC_100004"	"HGNC:14674"	"PCDH15"	"MONDO:0012293"	"autosomal recessive nonsyndromic hearing loss 23"	"OMIM:609533"	"OMIM:609533"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14674"	"PCDH15"	"OMIM:609533"	"Deafness, autosomal recessive 23, MIM# 609533"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PCDH15"	""	"11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14674.2"	"2020-11-09"
"GENCC_000111-HGNC_26257-OMIM_618003-HP_0000007-GENCC_100002"	"HGNC:26257"	"PDZD7"	"MONDO:0033201"	"hearing loss, autosomal recessive 57"	"OMIM:618003"	"OMIM:618003"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26257"	"PDZD7"	"OMIM:618003"	"Deafness, autosomal recessive 57, MIM# 618003"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PDZD7"	""	"19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26257"	"2020-11-09"
"GENCC_000111-HGNC_8850-OMIM_234580-HP_0000007-GENCC_100002"	"HGNC:8850"	"PEX1"	"MONDO:0024544"	"Heimler syndrome 1"	"OMIM:234580"	"OMIM:234580"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8850"	"PEX1"	"OMIM:234580"	"Heimler syndrome 1, MIM# 234580"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PEX1"	""	"32596134, 31831025, 27872819, 27633571, 27302843"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8850"	"2020-11-09"
"GENCC_000111-HGNC_9083-OMIM_612394-HP_0000007-GENCC_100002"	"HGNC:9083"	"PLOD3"	"MONDO:0012892"	"bone fragility with contractures, arterial rupture, and deafness"	"OMIM:612394"	"OMIM:612394"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9083"	"PLOD3"	"OMIM:612394"	"Lysyl hydroxylase 3 deficiency, MIM#612394"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"18834968, 31129566, 30237576, 30463024"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9083"	"2020-11-09"
"GENCC_000111-HGNC_9090-OMIM_618787-HP_0000006-GENCC_100002"	"HGNC:9090"	"PLS1"	"MONDO:0032917"	"hearing loss, autosomal dominant 76"	"OMIM:618787"	"OMIM:618787"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9090"	"PLS1"	"OMIM:618787"	"Deafness, autosomal dominant 76, MIM# 618787"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PLS1"	""	"31397523, 31432506, 30872814"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9090"	"2020-11-09"
"GENCC_000111-HGNC_23166-OMIM_614932-HP_0000007-GENCC_100002"	"HGNC:23166"	"PNPT1"	"MONDO:0013977"	"combined oxidative phosphorylation defect type 13"	"OMIM:614932"	"OMIM:614932"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23166"	"PNPT1"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13, MIM#614932"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PNPT1"	""	"23084290, 31752325, 30244537"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23166.1"	"2020-11-09"
"GENCC_000111-HGNC_23166-OMIM_614934-HP_0000007-GENCC_100004"	"HGNC:23166"	"PNPT1"	"MONDO:0013978"	"autosomal recessive nonsyndromic hearing loss 70"	"OMIM:614934"	"OMIM:614934"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23166"	"PNPT1"	"OMIM:614934"	"Deafness, autosomal recessive 70, MIM#614934"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PNPT1"	""	"23084290, 31752325, 30244537"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23166.2"	"2020-11-09"
"GENCC_000111-HGNC_9175-OMIM_615381-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"OMIM:615381"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381;Non-syndromic deafness"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POLD1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9175.1"	"2020-11-09"
"GENCC_000111-HGNC_9217-OMIM_304400-HP_0001417-GENCC_100002"	"HGNC:9217"	"POU3F4"	"MONDO:0010576"	"X-linked mixed hearing loss with perilymphatic gusher"	"OMIM:304400"	"OMIM:304400"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9217"	"POU3F4"	"OMIM:304400"	"Deafness, X-linked 2, MIM# 304400"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POU3F4"	""	"31786483, 30176854"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9217"	"2020-11-09"
"GENCC_000111-HGNC_9220-OMIM_602459-HP_0000006-GENCC_100002"	"HGNC:9220"	"POU4F3"	"MONDO:0011226"	"autosomal dominant nonsyndromic hearing loss 15"	"OMIM:602459"	"OMIM:602459"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9220"	"POU4F3"	"OMIM:602459"	"Deafness, autosomal dominant 15, MIM# 602459"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POU4F3"	""	"18228599, 9506947, 20434433, 28545070, 15254021, 8637595"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9220"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_304500-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010577"	"hearing loss, X-linked 1"	"OMIM:304500"	"OMIM:304500"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:304500"	"Deafness, X-linked 1, MIM# 304500"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.1"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_311070-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010699"	"Charcot-Marie-Tooth disease X-linked recessive 5"	"OMIM:311070"	"OMIM:311070"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:311070"	"Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.2"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_301835-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010533"	"Arts syndrome"	"OMIM:301835"	"OMIM:301835"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:301835"	"Arts syndrome, MIM# 301835"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.3"	"2020-11-09"
"GENCC_000111-HGNC_9679-OMIM_613391-HP_0000007-GENCC_100002"	"HGNC:9679"	"PTPRQ"	"MONDO:0013249"	"autosomal recessive nonsyndromic hearing loss 84A"	"OMIM:613391"	"OMIM:613391"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9679"	"PTPRQ"	"OMIM:613391"	"Deafness, autosomal recessive 84A, MIM# 613391"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PTPRQ"	""	"20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9679.1"	"2020-11-09"
"GENCC_000111-HGNC_9679-OMIM_617663-HP_0000006-GENCC_100003"	"HGNC:9679"	"PTPRQ"	"MONDO:0033260"	"hearing loss, autosomal dominant 73"	"OMIM:617663"	"OMIM:617663"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9679"	"PTPRQ"	"OMIM:617663"	"Deafness, autosomal dominant 73, MIM# 617663"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PTPRQ"	""	"20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9679.2"	"2020-11-09"
"GENCC_000111-HGNC_9944-OMIM_611022-HP_0000007-GENCC_100002"	"HGNC:9944"	"RDX"	"MONDO:0012602"	"autosomal recessive nonsyndromic hearing loss 24"	"OMIM:611022"	"OMIM:611022"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9944"	"RDX"	"OMIM:611022"	"Deafness, autosomal recessive 24, MIM# 611022"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/RDX"	""	"17226784, 19215054, 22567349, 26226137, 15314067"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9944"	"2020-11-09"
"GENCC_000111-HGNC_3169-OMIM_610419-HP_0000007-GENCC_100002"	"HGNC:3169"	"S1PR2"	"MONDO:0012485"	"autosomal recessive nonsyndromic hearing loss 68"	"OMIM:610419"	"OMIM:610419"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3169"	"S1PR2"	"OMIM:610419"	"Deafness, autosomal recessive 68, MIM# 610419"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/S1PR2"	""	"26805784, 29776397, 27383011"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3169"	"2020-11-09"
"GENCC_000111-HGNC_10524-OMIM_107480-HP_0000006-GENCC_100002"	"HGNC:10524"	"SALL1"	"MONDO:0054581"	"Townes-Brocks syndrome 1"	"OMIM:107480"	"OMIM:107480"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10524"	"SALL1"	"OMIM:107480"	"Townes-Brocks syndrome 1, MIM#107480"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SALL1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10524"	"2020-11-09"
"GENCC_000111-HGNC_15924-OMIM_607323-HP_0000006-GENCC_100002"	"HGNC:15924"	"SALL4"	"MONDO:0011812"	"Duane-radial ray syndrome"	"OMIM:607323"	"OMIM:607323"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15924"	"SALL4"	"OMIM:607323"	"Duane-radial ray syndrome, MIM#607323"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:10"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.15924"	"2020-12-30"
"GENCC_000111-HGNC_21061-OMIM_614739-HP_0000007-GENCC_100002"	"HGNC:21061"	"SERAC1"	"MONDO:0013875"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"OMIM:614739"	"OMIM:614739"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21061"	"SERAC1"	"OMIM:614739"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SERAC1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21061"	"2020-11-09"
"GENCC_000111-HGNC_8950-OMIM_613453-HP_0000007-GENCC_100002"	"HGNC:8950"	"SERPINB6"	"MONDO:0013269"	"autosomal recessive nonsyndromic hearing loss 91"	"OMIM:613453"	"OMIM:613453"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8950"	"SERPINB6"	"OMIM:613453"	"Deafness, autosomal recessive 91, MIM# 613453"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SERPINB6"	""	"20451170, 25719458, 23669344"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8950"	"2020-11-09"
"GENCC_000111-HGNC_10817-OMIM_617575-HP_0000007-GENCC_100002"	"HGNC:10817"	"SGPL1"	"MONDO:0033203"	"nephrotic syndrome 14"	"OMIM:617575"	"OMIM:617575"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10817"	"SGPL1"	"OMIM:617575"	"Nephrotic syndrome, type 14, MIM# 617575"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SGPL1"	""	"28181337, 28165339, 28165343"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10817"	"2020-11-09"
"GENCC_000111-HGNC_10887-OMIM_605192-HP_0000006-GENCC_100002"	"HGNC:10887"	"SIX1"	"MONDO:0011519"	"autosomal dominant nonsyndromic hearing loss 23"	"OMIM:605192"	"OMIM:605192"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10887"	"SIX1"	"OMIM:605192"	"Deafness, autosomal dominant 23, MIM# 605192"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX1"	""	"15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10887.1"	"2020-11-09"
"GENCC_000111-HGNC_10887-OMIM_608389-HP_0000006-GENCC_100002"	"HGNC:10887"	"SIX1"	"MONDO:0012025"	"branchiootic syndrome 3"	"OMIM:608389"	"OMIM:608389"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10887"	"SIX1"	"OMIM:608389"	"Branchiootic syndrome 3, MIM# 608389"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX1"	""	"15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10887.2"	"2020-11-09"
"GENCC_000111-HGNC_20151-OMIM_605583-HP_0000006-GENCC_100002"	"HGNC:20151"	"SLC17A8"	"MONDO:0011568"	"autosomal dominant nonsyndromic hearing loss 25"	"OMIM:605583"	"OMIM:605583"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20151"	"SLC17A8"	"OMIM:605583"	"Deafness, autosomal dominant 25, MIM#605583"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC17A8"	""	"18674745, 26797701, 28647561"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20151"	"2020-11-09"
"GENCC_000111-HGNC_10938-OMIM_249270-HP_0000007-GENCC_100002"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"OMIM:249270"	"OMIM:249270"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10938"	"SLC19A2"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC19A2"	""	"10391221, 10978358"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10938"	"2020-11-09"
"GENCC_000111-HGNC_8818-OMIM_600791-HP_0000007-GENCC_100002"	"HGNC:8818"	"SLC26A4"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"OMIM:600791"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8818"	"SLC26A4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC26A4"	""	"9618167, 19204907"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8818"	"2020-11-09"
"GENCC_000111-HGNC_9359-OMIM_613865-HP_0000007-GENCC_100002"	"HGNC:9359"	"SLC26A5"	"MONDO:0013471"	"autosomal recessive nonsyndromic hearing loss 61"	"OMIM:613865"	"OMIM:613865"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9359"	"SLC26A5"	"OMIM:613865"	"Deafness, autosomal recessive 61, MIM# 613865"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC26A5"	""	"24164807, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9359"	"2020-11-09"
"GENCC_000111-HGNC_16438-OMIM_217400-HP_0000007-GENCC_100002"	"HGNC:16438"	"SLC4A11"	"MONDO:0009015"	"corneal dystrophy-perceptive deafness syndrome"	"OMIM:217400"	"OMIM:217400"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16438"	"SLC4A11"	"OMIM:217400"	"Corneal endothelial dystrophy and perceptive deafness, MIM# 217400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC4A11"	""	"17220209"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16438"	"2020-11-09"
"GENCC_000111-HGNC_30224-OMIM_614707-HP_0000007-GENCC_100002"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"brown-Vialetto-van Laere syndrome 2"	"OMIM:614707"	"OMIM:614707"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30224"	"SLC52A2"	"OMIM:614707"	"Brown-Vialetto-Van Laere syndrome 2, MIM# 614707"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.30224"	"2021-01-21"
"GENCC_000111-HGNC_23503-OMIM_221200-HP_0000007-GENCC_100002"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"OMIM:221200"	"OMIM:221200"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23503"	"SLITRK6"	"OMIM:221200"	"Deafness and myopia, MIM#221200"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLITRK6"	""	"23543054, 29551497"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23503"	"2020-11-09"
"GENCC_000111-HGNC_11122-OMIM_300066-HP_0001417-GENCC_100002"	"HGNC:11122"	"SMPX"	"MONDO:0010238"	"hearing loss, X-linked 4"	"OMIM:300066"	"OMIM:300066"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11122"	"SMPX"	"OMIM:300066"	"Deafness, X-linked 4, MIM# 300066"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SMPX"	""	"21549342, 21549336, 21893181, 22911656, 28542515"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11122"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_609136-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012198"	"PCWH syndrome"	"OMIM:609136"	"OMIM:609136"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:609136"	"PCWH syndrome (MIM#609136)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.1"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_611584-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012698"	"Waardenburg syndrome type 2E"	"OMIM:611584"	"OMIM:611584"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:611584"	"Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.2"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_613266-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"OMIM:613266"	"OMIM:613266"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:613266"	"Waardenburg syndrome, type 4C (MIM#613266)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.3"	"2020-11-09"
"GENCC_000111-HGNC_18119-OMIM_616577-HP_0000007-GENCC_100002"	"HGNC:18119"	"AFG2A"	"MONDO:0014698"	"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"OMIM:616577"	"OMIM:616577"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18119"	"SPATA5"	"OMIM:616577"	"Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPATA5"	""	"26299366"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18119"	"2020-11-09"
"GENCC_000111-HGNC_14896-OMIM_617519-HP_0000007-GENCC_100002"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"OMIM:617519"	"OMIM:617519"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14896"	"SPTBN4"	"OMIM:617519"	"Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPTBN4"	""	"29861105, 28540413"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14896"	"2020-11-09"
"GENCC_000111-HGNC_16035-OMIM_603720-HP_0000007-GENCC_100002"	"HGNC:16035"	"STRC"	"MONDO:0011364"	"autosomal recessive nonsyndromic hearing loss 16"	"OMIM:603720"	"OMIM:603720"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16035"	"STRC"	"OMIM:603720"	"Deafness, autosomal recessive 16, MIM# 603720"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/STRC"	""	"11687802, 26011646, 26746617, 20301780"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16035"	"2020-11-09"
"GENCC_000111-HGNC_26703-OMIM_615540-HP_0000007-GENCC_100002"	"HGNC:26703"	"SYNE4"	"MONDO:0014237"	"autosomal recessive nonsyndromic hearing loss 76"	"OMIM:615540"	"OMIM:615540"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26703"	"SYNE4"	"OMIM:615540"	"Deafness, autosomal recessive 76, MIM# 615540"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SYNE4"	""	"23348741, 28958982"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26703"	"2020-11-09"
"GENCC_000111-HGNC_29203-OMIM_220500-HP_0000007-GENCC_100002"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"OMIM:220500"	"OMIM:220500"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29203"	"TBC1D24"	"OMIM:220500"	"DOORS syndrome, MIM#220500"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TBC1D24"	""	"24729539, 24729547, 24387994, 24291220"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29203.1"	"2020-11-09"
"GENCC_000111-HGNC_11720-OMIM_603629-HP_0000006-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011351"	"autosomal recessive nonsyndromic hearing loss 21"	"OMIM:603629"	"OMIM:603629"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11720"	"TECTA"	"OMIM:603629"	"Deafness, autosomal recessive 21 603629"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TECTA"	""	"22718023, 17136632, 31554319, 21520338"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11720.1"	"2020-11-09"
"GENCC_000111-HGNC_11720-OMIM_601543-HP_0000007-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011102"	"autosomal dominant nonsyndromic hearing loss 12"	"OMIM:601543"	"OMIM:601543"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11720"	"TECTA"	"OMIM:601543"	"Deafness, autosomal dominant 8/12 601543"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TECTA"	""	"22718023, 17136632, 31554319, 21520338"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11720.2"	"2020-11-09"
"GENCC_000111-HGNC_11817-OMIM_304700-HP_0001417-GENCC_100002"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"OMIM:304700"	"OMIM:304700"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11817"	"TIMM8A"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome, MIM# 304700"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TIMM8A"	""	"11803487, 11405816, 32820032"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11817"	"2020-11-09"
"GENCC_000111-HGNC_16513-OMIM_606705-HP_0000007-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0011708"	"autosomal dominant nonsyndromic hearing loss 36"	"OMIM:606705"	"OMIM:606705"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16513"	"TMC1"	"OMIM:606705"	"Deafness, autosomal dominant 36, MIM# 606705"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMC1"	""	"11850618, 17250663, 18616530, 24827932, 11850623, 22105175"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16513"	"2020-11-09"
"GENCC_000111-HGNC_16513-OMIM_600974-HP_0000006-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"OMIM:600974"	"OMIM:600974"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16513"	"TMC1"	"OMIM:600974"	"Deafness, autosomal dominant 36, MIM# 606705;Deafness, autosomal recessive 7, MIM# 600974"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMC1"	""	"11850618, 17250663, 18616530, 24827932, 11850623, 22105175"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16513"	"2020-11-09"
"GENCC_000111-HGNC_30800-OMIM_600971-HP_0000007-GENCC_100002"	"HGNC:30800"	"TMIE"	"MONDO:0010965"	"autosomal recessive nonsyndromic hearing loss 6"	"OMIM:600971"	"OMIM:600971"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30800"	"TMIE"	"OMIM:600971"	"Deafness, autosomal recessive 6, MIM# 600971"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMIE"	""	"12145746, 19438934, 24416283, 25467981, 25475183, 19934034, 12140191"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.30800"	"2020-11-09"
"GENCC_000111-HGNC_11877-OMIM_601072-HP_0000007-GENCC_100002"	"HGNC:11877"	"TMPRSS3"	"MONDO:0010987"	"autosomal recessive nonsyndromic hearing loss 8"	"OMIM:601072"	"OMIM:601072"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11877"	"TMPRSS3"	"OMIM:601072"	"Deafness, autosomal recessive 8/10, MIM#601072"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMPRSS3"	""	"21786053, 17551081"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11877"	"2020-11-09"
"GENCC_000111-HGNC_26894-OMIM_613307-HP_0000007-GENCC_100002"	"HGNC:26894"	"TPRN"	"MONDO:0013215"	"autosomal recessive nonsyndromic hearing loss 79"	"OMIM:613307"	"OMIM:613307"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26894"	"TPRN"	"OMIM:613307"	"Deafness, autosomal recessive 79, MIM# 613307"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TPRN"	""	"19603065, 20170898, 20170899, 23340767, 25129962, 20170899, 20170899, 27693694, 24285636"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26894"	"2020-11-09"
"GENCC_000111-HGNC_17009-OMIM_609823-HP_0000007-GENCC_100002"	"HGNC:17009"	"TRIOBP"	"MONDO:0012355"	"autosomal recessive nonsyndromic hearing loss 28"	"OMIM:609823"	"OMIM:609823"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17009"	"TRIOBP"	"OMIM:609823"	"Deafness, autosomal recessive 28, MIM# 609823"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TRIOBP"	""	"16385458, 16385457, 23226338, 27014650, 24853665, 27344577, 20510926"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17009"	"2020-11-09"
"GENCC_000111-HGNC_20771-OMIM_617879-HP_0000006-GENCC_100002"	"HGNC:20771"	"TUBB4B"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"OMIM:617879"	"OMIM:617879"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20771"	"TUBB4B"	"OMIM:617879"	"Leber congenital amaurosis with early-onset deafness, MIM# 617879"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TUBB4B"	""	"29198720"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20771"	"2020-11-09"
"GENCC_000111-HGNC_12597-OMIM_276904-HP_0000007-GENCC_100002"	"HGNC:12597"	"USH1C"	"MONDO:0010171"	"Usher syndrome type 1C"	"OMIM:276904"	"OMIM:276904"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12597"	"USH1C"	"OMIM:276904"	"Usher syndrome, type 1C, MIM# 276904"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1C"	""	"10973247, 10973248, 11239869, 21203349, 12107438"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12597.1"	"2020-11-09"
"GENCC_000111-HGNC_12597-OMIM_602092-HP_0000007-GENCC_100004"	"HGNC:12597"	"USH1C"	"MONDO:0011192"	"autosomal recessive nonsyndromic hearing loss 18A"	"OMIM:602092"	"OMIM:602092"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12597"	"USH1C"	"OMIM:602092"	"Deafness, autosomal recessive 18A, MIM# 602092"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1C"	""	"10973247, 10973248, 11239869, 21203349, 12107438"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12597.2"	"2020-11-09"
"GENCC_000111-HGNC_16356-OMIM_606943-HP_0000007-GENCC_100002"	"HGNC:16356"	"USH1G"	"MONDO:0011748"	"Usher syndrome type 1G"	"OMIM:606943"	"OMIM:606943"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16356"	"USH1G"	"OMIM:606943"	"Usher syndrome, type 1G, MIM# 606943"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1G"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16356"	"2020-11-09"
"GENCC_000111-HGNC_12601-OMIM_276901-HP_0000007-GENCC_100002"	"HGNC:12601"	"USH2A"	"MONDO:0010169"	"Usher syndrome type 2A"	"OMIM:276901"	"OMIM:276901"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12601"	"USH2A"	"OMIM:276901"	"Usher syndrome, type 2A, MIM# 276901"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH2A"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12601"	"2020-11-09"
"GENCC_000111-HGNC_12762-OMIM_222300-HP_0000007-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0009101"	"Wolfram syndrome 1"	"OMIM:222300"	"OMIM:222300"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12762"	"WFS1"	"OMIM:222300"	"Wolfram syndrome 1 222300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WFS1"	""	"11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12762.2"	"2020-11-09"
"GENCC_000111-HGNC_12762-OMIM_614296-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"OMIM:614296"	"OMIM:614296"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12762"	"WFS1"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant, MIM# 614296"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WFS1"	""	"11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12762.3"	"2020-11-09"
"GENCC_000111-HGNC_16361-OMIM_611383-HP_0000007-GENCC_100002"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"OMIM:611383"	"OMIM:611383"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16361"	"WHRN"	"OMIM:611383"	"Usher syndrome, type 2D, MIM# 611383"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WHRN"	""	"17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16361.1"	"2020-11-09"
"GENCC_000111-HGNC_16361-OMIM_607084-HP_0000007-GENCC_100003"	"HGNC:16361"	"WHRN"	"MONDO:0011767"	"autosomal recessive nonsyndromic hearing loss 31"	"OMIM:607084"	"OMIM:607084"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16361"	"WHRN"	"OMIM:607084"	"Deafness, autosomal recessive 31, MIM# 607084"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WHRN"	""	"17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16361"	"2020-11-09"
"GENCC_000111-HGNC_51-OMIM_618915-HP_0000006-GENCC_100003"	"HGNC:51"	"ABCC1"	"MONDO:0030058"	"hearing loss, autosomal dominant 77"	"OMIM:618915"	"OMIM:618915"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:51"	"ABCC1"	"OMIM:618915"	"Nonsyndromic hearing loss;Deafness-77, autosomal dominant (DFNA77), MIM#618915"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ABCC1"	""	"31273342"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.51"	"2020-11-09"
"GENCC_000111-HGNC_1391-OMIM_614896-HP_0000007-GENCC_100003"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"OMIM:614896"	"OMIM:614896"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1391"	"CACNA1D"	"OMIM:614896"	"Sinoatrial node dysfunction and deafness, MIM# 614896"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CACNA1D"	""	"21131953, 15357422, 22678062"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1391"	"2020-11-09"
"GENCC_000111-HGNC_1630-OMIM_609057-HP_0000007-GENCC_100002"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"OMIM:609057"	"OMIM:609057"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1630"	"CD151"	"OMIM:609057"	"Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"15265795, 29138120"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.1630"	"2021-03-09"
"GENCC_000111-HGNC_13517-OMIM_616042-HP_0000007-GENCC_100003"	"HGNC:13517"	"CLIC5"	"MONDO:0014469"	"autosomal recessive nonsyndromic hearing loss 103"	"OMIM:616042"	"OMIM:616042"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13517"	"CLIC5"	"OMIM:616042"	"Deafness, autosomal recessive 103, MIM# 616042"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLIC5"	""	"24781754, 17021174"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13517"	"2020-11-09"
"GENCC_000111-HGNC_2418-OMIM_616357-HP_0000006-GENCC_100003"	"HGNC:2418"	"CRYM"	"MONDO:0014603"	"autosomal dominant nonsyndromic hearing loss 40"	"OMIM:616357"	"OMIM:616357"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2418"	"CRYM"	"OMIM:616357"	"Deafness, autosomal dominant 40, MIM# 616357"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CRYM"	""	"12471561, 16740909, 18448257, 24676347, 26915689"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2418"	"2020-11-09"
"GENCC_000111-HGNC_21528-OMIM_614152-HP_0000006-GENCC_100003"	"HGNC:21528"	"DIABLO"	"MONDO:0013593"	"autosomal dominant nonsyndromic hearing loss 64"	"OMIM:614152"	"OMIM:614152"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21528"	"DIABLO"	"OMIM:614152"	"Deafness, autosomal dominant 64, MIM# 614152"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIABLO"	""	"21722859, 10929711, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21528"	"2020-11-09"
"GENCC_000111-HGNC_15480-OMIM_609129-HP_0000006-GENCC_100003"	"HGNC:15480"	"DIAPH3"	"MONDO:0012196"	"autosomal dominant auditory neuropathy 1"	"OMIM:609129"	"OMIM:609129"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15480"	"DIAPH3"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant, 1, MIM#609129"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIAPH3"	""	"23441200, 20624953, 27658576"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15480"	"2020-11-09"
"GENCC_000111-HGNC_3054-OMIM_605594-HP_0000006-GENCC_100003"	"HGNC:3054"	"DSPP"	"MONDO:0011571"	"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	"OMIM:605594"	"OMIM:605594"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3054"	"DSPP"	"OMIM:605594"	"Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DSPP"	""	"29741433, 11175790"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3054"	"2020-11-09"
"GENCC_000111-HGNC_26158-OMIM_615429-HP_0000007-GENCC_100003"	"HGNC:26158"	"ELMOD3"	"MONDO:0014182"	"autosomal recessive nonsyndromic hearing loss 88"	"OMIM:615429"	"OMIM:615429"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26158"	"ELMOD3"	"OMIM:615429"	"Deafness, autosomal recessive 88, MIM# 615429"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ELMOD3"	""	"24039609, 31628468, 30284680, 29713870"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26158.1"	"2020-11-09"
"GENCC_000111-HGNC_3424-OMIM_617565-HP_0000007-GENCC_100003"	"HGNC:3424"	"ERAL1"	"MONDO:0033047"	"Perrault syndrome 6"	"OMIM:617565"	"OMIM:617565"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3424"	"ERAL1"	"OMIM:617565"	"Perrault syndrome 6, MIM# 617565"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ERAL1"	""	"28449065"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3424"	"2020-11-09"
"GENCC_000111-HGNC_25966-OMIM_618013-HP_0000007-GENCC_100003"	"HGNC:25966"	"ESRP1"	"MONDO:0033202"	"hearing loss, autosomal recessive 109"	"OMIM:618013"	"OMIM:618013"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25966"	"ESRP1"	"OMIM:618013"	"Deafness, autosomal recessive 109, MIM# 618013"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESRP1"	""	"29107558"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25966"	"2020-11-09"
"GENCC_000111-HGNC_4283-OMIM_302800-HP_0001417-GENCC_100003"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"OMIM:302800"	"OMIM:302800"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4283"	"GJB1"	"OMIM:302800"	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4283"	"2020-11-09"
"GENCC_000111-HGNC_33862-OMIM_615837-HP_0000007-GENCC_100003"	"HGNC:33862"	"GRXCR2"	"MONDO:0014363"	"autosomal recessive nonsyndromic hearing loss 101"	"OMIM:615837"	"OMIM:615837"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:33862"	"GRXCR2"	"OMIM:615837"	"Deafness, autosomal recessive 101, MIM# 615837"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRXCR2"	""	"24619944"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.33862"	"2020-11-09"
"GENCC_000111-HGNC_6343-OMIM_616697-HP_0000006-GENCC_100003"	"HGNC:6343"	"KITLG"	"MONDO:0014738"	"autosomal dominant nonsyndromic hearing loss 69"	"OMIM:616697"	"OMIM:616697"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6343"	"KITLG"	"OMIM:616697"	"Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KITLG"	""	"26522471"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6343"	"2020-11-09"
"GENCC_000111-HGNC_31648-OMIM_613074-HP_0000006-GENCC_100003"	"HGNC:31648"	"MIR96"	"MONDO:0013114"	"autosomal dominant nonsyndromic hearing loss 50"	"OMIM:613074"	"OMIM:613074"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31648"	"MIR96"	"OMIM:613074"	"Deafness, autosomal dominant 50, MIM# 613074"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MIR96"	""	"19363479, 29325119"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31648"	"2020-11-09"
"GENCC_000111-HGNC_8616-OMIM_120330-HP_0000006-GENCC_100003"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"OMIM:120330"	"OMIM:120330"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8616"	"PAX2"	"OMIM:120330"	"Papillorenal syndrome, MIM# 120330"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX2"	""	"16971658, 8588587"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8616"	"2020-11-09"
"GENCC_000111-HGNC_9118-OMIM_118300-HP_0000006-GENCC_100003"	"HGNC:9118"	"PMP22"	"MONDO:0007311"	"Charcot-Marie-Tooth disease type 1E"	"OMIM:118300"	"OMIM:118300"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9118"	"PMP22"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E 118300"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PMP22"	""	"8355122, 10330345, 12578939"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9118"	"2020-11-09"
"GENCC_000111-HGNC_29035-OMIM_618422-HP_0000007-GENCC_100003"	"HGNC:29035"	"PPIP5K2"	"MONDO:0032740"	"hearing loss, autosomal recessive 100"	"OMIM:618422"	"OMIM:618422"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29035"	"PPIP5K2"	"OMIM:618422"	"Deafness, autosomal recessive 100, MIM# 618422"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PPIP5K2"	""	"29590114"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29035"	"2020-11-09"
"GENCC_000111-HGNC_13872-OMIM_616515-HP_0000007-GENCC_100003"	"HGNC:13872"	"RIPOR2"	"MONDO:0014675"	"autosomal recessive nonsyndromic hearing loss 104"	"OMIM:616515"	"OMIM:616515"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13872"	"RIPOR2"	"OMIM:616515"	"Deafness, autosomal recessive 104, MIM# 616515"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/RIPOR2"	""	"24958875, 32631815"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13872.1"	"2020-11-09"
"GENCC_000111-HGNC_10256-OMIM_617654-HP_0000007-GENCC_100003"	"HGNC:10256"	"ROR1"	"MONDO:0033200"	"hearing loss, autosomal recessive 108"	"OMIM:617654"	"OMIM:617654"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10256"	"ROR1"	"OMIM:617654"	"Deafness, autosomal recessive 108, MIM# 617654"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ROR1"	""	"27162350"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10256"	"2020-11-09"
"GENCC_000111-HGNC_11071-OMIM_616291-HP_0000007-GENCC_100003"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"OMIM:616291"	"OMIM:616291"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11071"	"SLC9A1"	"OMIM:616291"	"Lichtenstein-Knorr syndrome, MIM# 616291"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC9A1"	""	"25205112, 30018422, 25760855"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11071"	"2020-11-09"
"GENCC_000111-HGNC_11094-OMIM_608890-HP_0000007-GENCC_100003"	"HGNC:11094"	"SNAI2"	"MONDO:0012144"	"Waardenburg syndrome type 2D"	"OMIM:608890"	"OMIM:608890"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11094"	"SNAI2"	"OMIM:608890"	"Waardenburg syndrome, type 2D, MIM# 608890"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SNAI2"	""	"12444107, 30936914"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11094"	"2020-11-09"
"GENCC_000111-HGNC_11195-OMIM_206900-HP_0000006-GENCC_100003"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"OMIM:206900"	"OMIM:206900"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11195"	"SOX2"	"OMIM:206900"	"Anopthalmia and sensorineural hearing loss;Microphthalmia, syndromic 3 206900"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX2"	""	"30262714, 16932809, 16145681"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11195"	"2020-11-09"
"GENCC_000111-HGNC_26992-OMIM_618457-HP_0000007-GENCC_100003"	"HGNC:26992"	"SPNS2"	"MONDO:0032762"	"hearing loss, autosomal recessive 115"	"OMIM:618457"	"OMIM:618457"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26992"	"SPNS2"	"OMIM:618457"	"Deafness, autosomal recessive 115, MIM# 618457"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPNS2"	""	"30973865, 25356849"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26992"	"2020-11-09"
"GENCC_000111-HGNC_26991-OMIM_618481-HP_0000007-GENCC_100003"	"HGNC:26991"	"TMEM132E"	"MONDO:0032776"	"hearing loss, autosomal recessive 99"	"OMIM:618481"	"OMIM:618481"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26991"	"TMEM132E"	"OMIM:618481"	"Deafness, autosomal recessive 99, MIM# 618481"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMEM132E"	""	"25331638"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26991"	"2020-11-09"
"GENCC_000111-HGNC_5318-OMIM_615629-HP_0000006-GENCC_100003"	"HGNC:5318"	"TNC"	"MONDO:0014283"	"autosomal dominant nonsyndromic hearing loss 56"	"OMIM:615629"	"OMIM:615629"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5318"	"TNC"	"OMIM:615629"	"Deafness, autosomal dominant 56, MIM# 615629"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TNC"	""	"23936043"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5318"	"2020-11-09"
"GENCC_000111-HGNC_12738-OMIM_617639-HP_0000007-GENCC_100003"	"HGNC:12738"	"WBP2"	"MONDO:0033199"	"hearing loss, autosomal recessive 107"	"OMIM:617639"	"OMIM:617639"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12738"	"WBP2"	"OMIM:617639"	"Deafness, autosomal recessive 107, MIM# 617639"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WBP2"	""	"26881968"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12738"	"2020-11-09"
"GENCC_000111-HGNC_232-OMIM_610154-HP_0000007-GENCC_100004"	"HGNC:232"	"ADCY1"	"MONDO:0012421"	"autosomal recessive nonsyndromic hearing loss 44"	"OMIM:610154"	"OMIM:610154"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:232"	"ADCY1"	"OMIM:610154"	"Deafness, autosomal recessive 44, MIM# 610154"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ADCY1"	""	"24482543"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.232"	"2020-11-09"
"GENCC_000111-HGNC_13652-OMIM_618257-HP_0000007-GENCC_100004"	"HGNC:13652"	"BDP1"	"MONDO:0032639"	"hearing loss, autosomal recessive 112"	"OMIM:618257"	"OMIM:618257"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13652"	"BDP1"	"OMIM:618257"	"Deafness, autosomal recessive 112, MIM#618257"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BDP1"	""	"24312468, 25060281"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13652"	"2020-11-09"
"GENCC_000111-HGNC_1632-OMIM_616969-HP_0000006-GENCC_100004"	"HGNC:1632"	"CD164"	"MONDO:0014854"	"autosomal dominant nonsyndromic hearing loss 66"	"OMIM:616969"	"OMIM:616969"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1632"	"CD164"	"OMIM:616969"	"Deafness, autosomal dominant 66, MIM# 616969"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CD164"	""	"26197441"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1632"	"2020-11-09"
"GENCC_000111-HGNC_24546-OMIM_615654-HP_0000006-GENCC_100004"	"HGNC:24546"	"CNRIP1"	"MONDO:0014293"	"autosomal dominant nonsyndromic hearing loss 58"	"OMIM:615654"	"OMIM:615654"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24546"	"CNRIP1"	"OMIM:615654"	"Deafness, autosomal dominant 58 MIM#615654"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CNRIP1"	""	"32337552, 19159392"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24546"	"2020-11-09"
"GENCC_000111-HGNC_2208-OMIM_300914-HP_0001417-GENCC_100004"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"OMIM:300914"	"OMIM:300914"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2208"	"COL4A6"	"OMIM:300914"	"Deafness, X-linked 6, MIM# 300914"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL4A6"	""	"23714752"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2208"	"2020-11-09"
"GENCC_000111-HGNC_18141-OMIM_610212-HP_0000007-GENCC_100004"	"HGNC:18141"	"DCDC2"	"MONDO:0012442"	"autosomal recessive nonsyndromic hearing loss 66"	"OMIM:610212"	"OMIM:610212"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18141"	"DCDC2"	"OMIM:610212"	"Deafness, autosomal recessive 66, MIM# 610212"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DCDC2"	""	"25601850, 22558177, 25130614"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18141"	"2020-11-09"
"GENCC_000111-HGNC_4285-OMIM_612644-HP_0000006-GENCC_100004"	"HGNC:4285"	"GJB3"	"MONDO:0012976"	"autosomal dominant nonsyndromic hearing loss 2B"	"OMIM:612644"	"OMIM:612644"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4285"	"GJB3"	"OMIM:612644"	"Deafness, autosomal dominant 2B, MIM# 612644"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB3"	""	"9843210"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4285"	"2020-11-09"
"GENCC_000111-HGNC_4562-OMIM_618456-HP_0000007-GENCC_100004"	"HGNC:4562"	"GRAP"	"MONDO:0032761"	"hearing loss, autosomal recessive 114"	"OMIM:618456"	"OMIM:618456"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4562"	"GRAP"	"OMIM:618456"	"Deafness, autosomal recessive 114, MIM# 618456"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRAP"	""	"30610177"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4562"	"2020-11-09"
"GENCC_000111-HGNC_6944-OMIM_616968-HP_0000006-GENCC_100004"	"HGNC:6944"	"MCM2"	"MONDO:0014853"	"autosomal dominant nonsyndromic hearing loss 70"	"OMIM:616968"	"OMIM:616968"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6944"	"MCM2"	"OMIM:616968"	"Deafness, autosomal dominant 70, MIM# 616968"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MCM2"	""	"26196677"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6944"	"2020-11-09"
"GENCC_000111-HGNC_7029-OMIM_616705-HP_0000007-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0014739"	"autosomal recessive nonsyndromic hearing loss 97"	"OMIM:616705"	"OMIM:616705"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7029"	"MET"	"OMIM:616705"	"Deafness, autosomal recessive 97, MIM# 616705"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MET"	""	"25941349, 31801140"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7029"	"2020-11-09"
"GENCC_000111-HGNC_10891-OMIM_610896-HP_0000006-GENCC_100004"	"HGNC:10891"	"SIX5"	"MONDO:0012575"	"branchiootorenal syndrome 2"	"OMIM:610896"	"OMIM:610896"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10891"	"SIX5"	"OMIM:610896"	"Branchiootorenal syndrome 2, MIM#610896"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX5"	""	"17357085, 24429398, 21280147, 14704431, 17357085, 11950062"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10891"	"2020-11-09"
"GENCC_000111-HGNC_18502-OMIM_400047-HP_0001450-GENCC_100004"	"HGNC:18502"	"TBL1Y"	"MONDO:0027048"	"deafness, Y-linked 2"	"OMIM:400047"	"OMIM:400047"	"GENCC:100004"	"Limited"	"HP:0001450"	"Y-linked inheritance"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18502"	"TBL1Y"	"OMIM:400047"	"Deafness, Y-linked 2, MIM# 400047 "	"HP:0001450"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TBL1Y"	""	"30341416"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18502"	"2020-11-09"
"GENCC_000111-HGNC_1268-OMIM_614861-HP_0000007-GENCC_100005"	"HGNC:1268"	"TSPEAR"	"MONDO:0013929"	"autosomal recessive nonsyndromic hearing loss 98"	"OMIM:614861"	"OMIM:614861"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1268"	"TSPEAR"	"OMIM:614861"	"Deafness, autosomal recessive 98, MIM#614861"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100005"	"Disputed"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TSPEAR"	""	"22678063, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1268"	"2020-11-09"
"GENCC_000112-HGNC_5017-OMIM_612109-HP_0000007-GENCC_100002"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"OMIM:612109"	"OMIM:612109"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5017"	"HMX1"	"OMIM:612109"	"OCULOAURICULAR SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25574057,29140751,18423520"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113460"	"2023-09-11"
"GENCC_000112-HGNC_3754-OMIM_311300-HP_0001419-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010704"	"otopalatodigital syndrome type 1"	"OMIM:311300"	"OMIM:311300"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:311300"	"OTOPALATODIGITAL SYNDROME TYPE 1"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:07"	""	""	"15654694, 16596676, 15940695, 12612583"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"2"	"2020-11-25"
"GENCC_000112-HGNC_23845-OMIM_613951-HP_0000007-GENCC_100001"	"HGNC:23845"	"SLX4"	"MONDO:0013499"	"Fanconi anemia complementation group P"	"OMIM:613951"	"OMIM:613951"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23845"	"SLX4"	"OMIM:613951"	"FANCONI ANEMIA COMPLEMENTATION GROUP P"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21240275,21240277"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113461"	"2023-09-11"
"GENCC_000112-HGNC_663-OMIM_207800-HP_0000007-GENCC_100001"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"OMIM:207800"	"OMIM:207800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:663"	"ARG1"	"OMIM:207800"	"ARGININEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10502833,1598908,7649538,2365823,1463019"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113462"	"2023-09-11"
"GENCC_000112-HGNC_882-OMIM_210600-HP_0000007-GENCC_100002"	"HGNC:882"	"ATR"	"MONDO:0008869"	"Seckel syndrome 1"	"OMIM:210600"	"OMIM:210600"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:882"	"ATR"	"OMIM:210600"	"SECKEL SYNDROME TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113463"	"2023-09-11"
"GENCC_000112-HGNC_8031-OMIM_256800-HP_0000007-GENCC_100001"	"HGNC:8031"	"NTRK1"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"OMIM:256800"	"OMIM:256800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8031"	"NTRK1"	"OMIM:256800"	"CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10982191,8696348,8145823,10233776,10861667,10330344,10090906,19250380"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113466"	"2023-09-11"
"GENCC_000112-HGNC_16262-OMIM_120433-HP_0000006-GENCC_100002"	"HGNC:16262"	"YAP1"	"MONDO:0007355"	"uveal coloboma-cleft lip and palate-intellectual disability"	"OMIM:120433"	"OMIM:120433"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16262"	"YAP1"	"OMIM:120433"	"COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"27267789,24462371"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113467"	"2023-09-11"
"GENCC_000112-HGNC_30000-OMIM_615986-HP_0000007-GENCC_100001"	"HGNC:30000"	"BBS9"	"MONDO:0014437"	"Bardet-Biedl syndrome 9"	"OMIM:615986"	"OMIM:615986"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30000"	"BBS9"	"OMIM:615986"	"BARDET-BIEDL SYNDROME TYPE 9"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22353939,16380913"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113468"	"2023-09-11"
"GENCC_000112-HGNC_16380-OMIM_615988-HP_0000007-GENCC_100001"	"HGNC:16380"	"TRIM32"	"MONDO:0014439"	"Bardet-Biedl syndrome 11"	"OMIM:615988"	"OMIM:615988"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16380"	"TRIM32"	"OMIM:615988"	"BARDET-BIEDL SYNDROME TYPE 11"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16606853"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113469"	"2023-09-11"
"GENCC_000112-HGNC_8616-OMIM_120330-HP_0000006-GENCC_100001"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"OMIM:120330"	"OMIM:120330"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8616"	"PAX2"	"OMIM:120330"	"RENAL-COLOBOMA SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9760197,3377002,2644560,11461952,7795640,11093271,9106533"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113470"	"2023-09-11"
"GENCC_000112-HGNC_3690-OMIM_149730-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0100302"	"LADD syndrome 1"	"OMIM:149730"	"OMIM:149730"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3690"	"FGFR3"	"OMIM:149730"	"LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16501574,28483234"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113471"	"2023-09-11"
"GENCC_000112-HGNC_14234-OMIM_277590-HP_0000006-GENCC_100001"	"HGNC:14234"	"NSD1"	"MONDO:0010193"	"Weaver syndrome"	"OMIM:277590"	"OMIM:277590"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14234"	"NSD1"	"OMIM:277590"	"WEAVER SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:09"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"14"	"2020-11-25"
"GENCC_000112-HGNC_225-OMIM_127400-HP_0000006-GENCC_100001"	"HGNC:225"	"ADAR"	"MONDO:0007483"	"dyschromatosis symmetrica hereditaria"	"OMIM:127400"	"OMIM:127400"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:225"	"ADAR"	"OMIM:127400"	"DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12916015,17478391,16935814,16817193"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113472"	"2023-09-11"
"GENCC_000112-HGNC_22788-OMIM_616030-HP_0000007-GENCC_100002"	"HGNC:22788"	"FEZF1"	"MONDO:0014461"	"hypogonadotropic hypogonadism 22 with or without anosmia"	"OMIM:616030"	"OMIM:616030"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:22788"	"FEZF1"	"OMIM:616030"	"HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25192046"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113473"	"2023-09-11"
"GENCC_000112-HGNC_3755-OMIM_272460-HP_0000007-GENCC_100001"	"HGNC:3755"	"FLNB"	"MONDO:0010094"	"spondylocarpotarsal synostosis syndrome"	"OMIM:272460"	"OMIM:272460"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3755"	"FLNB"	"OMIM:272460"	"SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18386804,14991055,18257094"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113474"	"2023-09-11"
"GENCC_000112-HGNC_24862-OMIM_612379-HP_0000007-GENCC_100002"	"HGNC:24862"	"MOGS"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24862"	"MOGS"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113476"	"2023-09-11"
"GENCC_000112-HGNC_327-OMIM_600121-HP_0000007-GENCC_100001"	"HGNC:327"	"AGPS"	"MONDO:0010823"	"rhizomelic chondrodysplasia punctata type 3"	"OMIM:600121"	"OMIM:600121"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:327"	"AGPS"	"OMIM:600121"	"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7807941,11152660"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113477"	"2023-09-11"
"GENCC_000112-HGNC_2567-OMIM_311200-HP_0001423-GENCC_100001"	"HGNC:2567"	"OFD1"	"MONDO:0010702"	"orofaciodigital syndrome I"	"OMIM:311200"	"OMIM:311200"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:2567"	"OFD1"	"OMIM:311200"	"ORAL-FACIAL-DIGITAL SYNDROME TYPE 1"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:09"	""	""	"9198060, 11179005, 11950863, 15221448, 9482645"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"21"	"2020-11-25"
"GENCC_000112-HGNC_8574-OMIM_607432-HP_0000006-GENCC_100001"	"HGNC:8574"	"PAFAH1B1"	"MONDO:0011830"	"lissencephaly due to LIS1 mutation"	"OMIM:607432"	"OMIM:607432"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8574"	"PAFAH1B1"	"OMIM:607432"	"LISSENCEPHALY TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14581661,15007136,11502906,10441340"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113479"	"2023-09-11"
"GENCC_000112-HGNC_18806-OMIM_614756-HP_0000006-GENCC_100002"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"OMIM:614756"	"OMIM:614756"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18806"	"CAMTA1"	"OMIM:614756"	"CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22693284"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113481"	"2023-09-11"
"GENCC_000112-HGNC_1971-OMIM_143095-HP_0000007-GENCC_100001"	"HGNC:1971"	"CHST3"	"MONDO:0007738"	"spondyloepiphyseal dysplasia with congenital joint dislocations"	"OMIM:143095"	"OMIM:143095"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1971"	"CHST3"	"OMIM:143095"	"SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"112567,18698629,15098240,20830804,18513679,19320654"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113482"	"2023-09-11"
"GENCC_000112-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100001"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"OMIM:218040"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16443854,18247425,17468812,16835863,18039947,17412879,17054105,16170316,19995790,17056636"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113921"	"2023-09-11"
"GENCC_000112-HGNC_13436-OMIM_613826-HP_0000007-GENCC_100001"	"HGNC:13436"	"RPGRIP1"	"MONDO:0013446"	"Leber congenital amaurosis 6"	"OMIM:613826"	"OMIM:613826"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13436"	"RPGRIP1"	"OMIM:613826"	"LEBER CONGENITAL AMAUROSIS 6"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11283794,11528500"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113484"	"2023-09-11"
"GENCC_000112-HGNC_496-OMIM_263650-HP_0000007-GENCC_100001"	"HGNC:496"	"RIPK4"	"MONDO:0009901"	"Bartsocas-Papas syndrome 1"	"OMIM:263650"	"OMIM:263650"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:496"	"RIPK4"	"OMIM:263650"	"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15264293,22197488"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113485"	"2023-09-11"
"GENCC_000112-HGNC_20473-OMIM_609054-HP_0000007-GENCC_100001"	"HGNC:20473"	"BRIP1"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"OMIM:609054"	"OMIM:609054"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20473"	"BRIP1"	"OMIM:609054"	"FANCONI ANEMIA, COMPLEMENTATION GROUP J"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16116424"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113486"	"2023-09-11"
"GENCC_000112-HGNC_2567-OMIM_300209-HP_0001419-GENCC_100001"	"HGNC:2567"	"OFD1"	"MONDO:0010265"	"Simpson-Golabi-Behmel syndrome type 2"	"OMIM:300209"	"OMIM:300209"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:2567"	"OFD1"	"OMIM:300209"	"SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:10"	""	""	"16783569"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"30"	"2020-11-25"
"GENCC_000112-HGNC_11602-OMIM_181450-HP_0000006-GENCC_100001"	"HGNC:11602"	"TBX3"	"MONDO:0008411"	"ulnar-mammary syndrome"	"OMIM:181450"	"OMIM:181450"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11602"	"TBX3"	"OMIM:181450"	"ULNAR-MAMMARY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19938096,12116211,9207801,12668170"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113487"	"2023-09-11"
"GENCC_000112-HGNC_6481-OMIM_615960-HP_0000007-GENCC_100001"	"HGNC:6481"	"LAMA1"	"MONDO:0014419"	"ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"	"OMIM:615960"	"OMIM:615960"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6481"	"LAMA1"	"OMIM:615960"	"CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21937992,25105227"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113488"	"2023-09-11"
"GENCC_000112-HGNC_8653-OMIM_606054-HP_0000007-GENCC_100001"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"OMIM:606054"	"OMIM:606054"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8653"	"PCCA"	"OMIM:606054"	"PROPIONIC ACIDEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10820128,8295402,8411997,9887338,17966092,12189489,9683601,8225321,10101253,9385377"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113490"	"2023-09-11"
"GENCC_000112-HGNC_6990-OMIM_312750-HP_0001423-GENCC_100001"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"OMIM:312750"	"OMIM:312750"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:6990"	"MECP2"	"OMIM:312750"	"RETT SYNDROME (RTT)["	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:11"	""	""	"16630165, 10854091, 15034579, 11214906, 11022934, 12481990, 19034540, 10814718, 11313756, 10767337, 15857422, 18989701, 11930274, 10508514, 10577905"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"37"	"2020-11-25"
"GENCC_000112-HGNC_3999-OMIM_600886-HP_0000006-GENCC_100001"	"HGNC:3999"	"FTL"	"MONDO:0010952"	"hereditary hyperferritinemia with congenital cataracts"	"OMIM:600886"	"OMIM:600886"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3999"	"FTL"	"OMIM:600886"	"HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19176363,12200611,7669675,9414300,9414313,7493028,9226182,9292547,11849230,10759702"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113494"	"2023-09-11"
"GENCC_000112-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100001"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"OMIM:613563"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1541"	"CBL"	"OMIM:613563"	"NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20619386,20694012,20543203"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113495"	"2023-09-11"
"GENCC_000112-HGNC_2200-OMIM_156550-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007987"	"Kniest dysplasia"	"OMIM:156550"	"OMIM:156550"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2200"	"COL2A1"	"OMIM:156550"	"KNIEST DYSPLASIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"26626311,7874117,7981752,7849719,26443184"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113496"	"2023-09-11"
"GENCC_000112-HGNC_11769-OMIM_615582-HP_0000006-GENCC_100001"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"OMIM:615582"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11769"	"TGFB3"	"OMIM:615582"	"LOEYS-DIETZ SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24798638"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113497"	"2023-09-11"
"GENCC_000112-HGNC_23215-OMIM_614749-HP_0000007-GENCC_100001"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"OMIM:614749"	"OMIM:614749"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23215"	"PIGO"	"OMIM:614749"	"HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22683086"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113498"	"2023-09-11"
"GENCC_000112-HGNC_4274-OMIM_234100-HP_0000007-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0009318"	"Hallermann-Streiff syndrome"	"OMIM:234100"	"OMIM:234100"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4274"	"GJA1"	"OMIM:234100"	"HALLERMANN-STREIFF SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"14974090,14981729"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113499"	"2023-09-11"
"GENCC_000112-HGNC_11397-OMIM_616171-HP_0000007-GENCC_100001"	"HGNC:11397"	"PLK4"	"MONDO:0014516"	"microcephaly and chorioretinopathy 2"	"OMIM:616171"	"OMIM:616171"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11397"	"PLK4"	"OMIM:616171"	"MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25344692"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113500"	"2023-09-11"
"GENCC_000112-HGNC_713-OMIM_250100-HP_0000007-GENCC_100001"	"HGNC:713"	"ARSA"	"MONDO:0009591"	"metachromatic leukodystrophy, juvenile form"	"OMIM:250100"	"OMIM:250100"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:713"	"ARSA"	"OMIM:250100"	"ARYLSULFATASE A DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1676699,11456299,7981715,1353340,1684088,11061266,2574462,9600244,8104633,1673291,7902317,8101038,7815433,7909527,1670590,7906588,12788103,1678251,8101083,7833949,7858169,11941485,7866401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113501"	"2023-09-11"
"GENCC_000112-HGNC_2074-OMIM_204200-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"OMIM:204200"	"OMIM:204200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2074"	"CLN3"	"OMIM:204200"	"NEURONAL CEROID LIPOFUSCINOSIS TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7553855,7887420,19489875,9450775"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113502"	"2023-09-11"
"GENCC_000112-HGNC_13875-OMIM_602081-HP_0000006-GENCC_100002"	"HGNC:13875"	"FOXP2"	"MONDO:0011184"	"childhood apraxia of speech"	"OMIM:602081"	"OMIM:602081"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13875"	"FOXP2"	"OMIM:602081"	"SPEECH-LANGUAGE DISORDER 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"2332125,15877281"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113504"	"2023-09-11"
"GENCC_000112-HGNC_19189-OMIM_614219-HP_0000007-GENCC_100002"	"HGNC:19189"	"DOCK6"	"MONDO:0013635"	"Adams-Oliver syndrome 2"	"OMIM:614219"	"OMIM:614219"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19189"	"DOCK6"	"OMIM:614219"	"ADAMS-OLIVER SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21820096"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113505"	"2023-09-11"
"GENCC_000112-HGNC_9006-OMIM_610623-HP_0000006-GENCC_100001"	"HGNC:9006"	"PITX3"	"MONDO:0012527"	"cataract 11 multiple types"	"OMIM:610623"	"OMIM:610623"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9006"	"PITX3"	"OMIM:610623"	"CATARACT 11, MULTIPLE TYPES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-08-30 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113233"	"2023-09-11"
"GENCC_000112-HGNC_20311-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:20311"	"CHAMP1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20311"	"CHAMP1"	"OMIM:616579"	"CHAMP1-related neurodevelopmental disorder"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"36106092,35271727,26751395,26340335,27148580"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113507"	"2023-09-11"
"GENCC_000112-HGNC_12816-OMIM_278720-HP_0000007-GENCC_100001"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"OMIM:278720"	"OMIM:278720"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12816"	"XPC"	"OMIM:278720"	"XERODERMA PIGMENTOSUM, GROUP C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11511294,14662655,8298653,11121128,19478817,9804340"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113508"	"2023-09-11"
"GENCC_000112-HGNC_3808-OMIM_610256-HP_0000007-GENCC_100001"	"HGNC:3808"	"FOXE3"	"MONDO:0012456"	"congenital primary aphakia"	"OMIM:610256"	"OMIM:610256"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3808"	"FOXE3"	"OMIM:610256"	"CONGENITAL PRIMARY APHAKIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22204637,16826526,20361012,20140963,29136273,11159941"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113509"	"2023-09-11"
"GENCC_000112-HGNC_12502-OMIM_608874-HP_0000006-GENCC_100004"	"HGNC:12502"	"SUMO1"	"MONDO:0012142"	"orofacial cleft 5"	"OMIM:608874"	"OMIM:608874"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12502"	"SUMO1"	"OMIM:608874"	"CLEFT LIP +/- CLEFT PALATE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"16990542"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113510"	"2023-09-11"
"GENCC_000112-HGNC_2079-OMIM_600143-HP_0000007-GENCC_100001"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"OMIM:600143"	"OMIM:600143"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2079"	"CLN8"	"OMIM:600143"	"NEURONAL CEROID LIPOFUSCINOSIS TYPE 8"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19431184,16570191,10508524"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113511"	"2023-09-11"
"GENCC_000112-HGNC_4218-OMIM_613704-HP_0000006-GENCC_100004"	"HGNC:4218"	"GDF3"	"MONDO:0013377"	"isolated microphthalmia 7"	"OMIM:613704"	"OMIM:613704"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4218"	"GDF3"	"OMIM:613704"	"Microphthalmia, isolated 7"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2017-08-27 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113085"	"2023-09-11"
"GENCC_000112-HGNC_7108-OMIM_236700-HP_0000007-GENCC_100001"	"HGNC:7108"	"MKKS"	"MONDO:0009367"	"McKusick-Kaufman syndrome"	"OMIM:236700"	"OMIM:236700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7108"	"MKKS"	"OMIM:236700"	"MCKUSICK-KAUFMAN SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10802661"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113512"	"2023-09-11"
"GENCC_000112-HGNC_7908-OMIM_256300-HP_0000007-GENCC_100001"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"OMIM:256300"	"OMIM:256300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7908"	"NPHS1"	"OMIM:256300"	"NEPHROTIC SYNDROME TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17290294,11854170,9660941,10577936,10652016"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113513"	"2023-09-11"
"GENCC_000112-HGNC_319-OMIM_608361-HP_0000006-GENCC_100001"	"HGNC:319"	"ACAN"	"MONDO:0012019"	"spondyloepiphyseal dysplasia, Kimberley type"	"OMIM:608361"	"OMIM:608361"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:319"	"ACAN"	"OMIM:608361"	"SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113514"	"2023-09-11"
"GENCC_000112-HGNC_6701-OMIM_615431-HP_0000007-GENCC_100004"	"HGNC:6701"	"LRPAP1"	"MONDO:0014183"	"myopia 23, autosomal recessive"	"OMIM:615431"	"OMIM:615431"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6701"	"LRPAP1"	"OMIM:615431"	"EXTREME MYOPIA;MYOPIA 23, AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23830514"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113515"	"2023-09-11"
"GENCC_000112-HGNC_7631-OMIM_609242-HP_0000007-GENCC_100001"	"HGNC:7631"	"NAGA"	"MONDO:0012222"	"alpha-N-acetylgalactosaminidase deficiency type 2"	"OMIM:609242"	"OMIM:609242"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7631"	"NAGA"	"OMIM:609242"	"KANZAKI DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8782044,8071745,2243144,2564952,11251574"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113517"	"2023-09-11"
"GENCC_000112-HGNC_15917-OMIM_613722-HP_0000007-GENCC_100002"	"HGNC:15917"	"PLCB1"	"MONDO:0013389"	"developmental and epileptic encephalopathy, 12"	"OMIM:613722"	"OMIM:613722"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15917"	"PLCB1"	"OMIM:613722"	"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"20833646"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113518"	"2023-09-11"
"GENCC_000112-HGNC_17820-OMIM_266120-HP_0000007-GENCC_100001"	"HGNC:17820"	"NT5C3A"	"MONDO:0009946"	"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"OMIM:266120"	"OMIM:266120"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17820"	"NT5C3A"	"OMIM:266120"	"HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113519"	"2023-09-11"
"GENCC_000112-HGNC_18060-OMIM_300419-HP_0001419-GENCC_100001"	"HGNC:18060"	"ARX"	"MONDO:0010317"	"intellectual disability, X-linked, with or without seizures, arx-related"	"OMIM:300419"	"OMIM:300419"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:18060"	"ARX"	"OMIM:300419"	"MENTAL RETARDATION X-LINKED ARX-RELATED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:13"	""	""	"19606478, 11971879, 11889467, 21204226, 21108397, 12177367, 1605226, 14722918, 12379852, 18462864, 10353782, 17668384, 11891829, 19738637"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"67"	"2020-11-25"
"GENCC_000112-HGNC_11098-OMIM_135900-HP_0000006-GENCC_100001"	"HGNC:11098"	"SMARCA2"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"OMIM:135900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11098"	"SMARCA2"	"OMIM:135900"	"COFFIN SIRIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:13"	""	""	"22426308"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"68"	"2020-11-25"
"GENCC_000112-HGNC_29059-OMIM_309530-HP_0001423-GENCC_100001"	"HGNC:29059"	"IQSEC2"	"MONDO:0010656"	"intellectual disability, X-linked 1"	"OMIM:309530"	"OMIM:309530"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:29059"	"IQSEC2"	"OMIM:309530"	"MENTAL RETARDATION X-LINKED TYPE 1"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:13"	""	""	"31415821, 23674175, 24306141, 26793055, 27665735, 20473311, 31829726, 29026562, 28295038, 28815955, 30666632, 30206421, 26733290, 31490346"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"69"	"2020-11-25"
"GENCC_000112-HGNC_1975-OMIM_610092-HP_0000007-GENCC_100001"	"HGNC:1975"	"VSX2"	"MONDO:0012408"	"microphthalmia, isolated, with coloboma 3"	"OMIM:610092"	"OMIM:610092"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1975"	"VSX2"	"OMIM:610092"	"MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113523"	"2023-09-11"
"GENCC_000112-HGNC_13398-OMIM_300831-HP_0001419-GENCC_100001"	"HGNC:13398"	"NSDHL"	"MONDO:0010441"	"CK syndrome"	"OMIM:300831"	"OMIM:300831"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:13398"	"NSDHL"	"OMIM:300831"	"CK SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:13"	""	""	"19842190, 19377476"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"71"	"2020-11-25"
"GENCC_000112-HGNC_2995-OMIM_614750-HP_0000007-GENCC_100001"	"HGNC:2995"	"DPAGT1"	"MONDO:0013883"	"congenital myasthenic syndrome 13"	"OMIM:614750"	"OMIM:614750"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2995"	"DPAGT1"	"OMIM:614750"	"MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22742743"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113525"	"2023-09-11"
"GENCC_000112-HGNC_37227-OMIM_609273-HP_0000006-GENCC_100001"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"OMIM:609273"	"OMIM:609273"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:37227"	"KBTBD13"	"OMIM:609273"	"NEMALINE MYOPATHY 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21104864,21109227,12805120"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113526"	"2023-09-11"
"GENCC_000112-HGNC_9059-OMIM_602483-HP_0000006-GENCC_100002"	"HGNC:9059"	"PLCB4"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"OMIM:602483"	"OMIM:602483"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9059"	"PLCB4"	"OMIM:602483"	"AURICULOCONDYLAR SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113529"	"2023-09-11"
"GENCC_000112-HGNC_6572-OMIM_600512-HP_0000006-GENCC_100004"	"HGNC:6572"	"LGI1"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"OMIM:600512"	"OMIM:600512"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6572"	"LGI1"	"OMIM:600512"	"AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:14"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"77"	"2020-11-25"
"GENCC_000112-HGNC_13387-OMIM_613824-HP_0000007-GENCC_100002"	"HGNC:13387"	"NEK8"	"MONDO:0013444"	"nephronophthisis 9"	"OMIM:613824"	"OMIM:613824"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13387"	"NEK8"	"OMIM:613824"	"NEPHRONOPHTHISIS 9"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"18199800"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113530"	"2023-09-11"
"GENCC_000112-HGNC_23068-OMIM_313400-HP_0001419-GENCC_100001"	"HGNC:23068"	"TRAPPC2"	"MONDO:0010737"	"spondyloepiphyseal dysplasia tarda, X-linked"	"OMIM:313400"	"OMIM:313400"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:23068"	"TRAPPC2"	"OMIM:313400"	"SPONDYLOEPIPHYSEAL DYSPLASIA TARDA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:14"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"80"	"2020-11-25"
"GENCC_000112-HGNC_5125-OMIM_614931-HP_0000007-GENCC_100001"	"HGNC:5125"	"HOXC13"	"MONDO:0013976"	"ectodermal dysplasia 9, hair/nail type"	"OMIM:614931"	"OMIM:614931"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5125"	"HOXC13"	"OMIM:614931"	"PURE HAIR AND NAIL ECTODERMAL DYSPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23315978,23063621"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113532"	"2023-09-11"
"GENCC_000112-HGNC_1744-OMIM_613805-HP_0000007-GENCC_100001"	"HGNC:1744"	"CDC6"	"MONDO:0013432"	"Meier-Gorlin syndrome 5"	"OMIM:613805"	"OMIM:613805"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1744"	"CDC6"	"OMIM:613805"	"MEIER-GORLIN SYNDROME 5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11477602"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113533"	"2023-09-11"
"GENCC_000112-HGNC_29077-OMIM_266920-HP_0000007-GENCC_100001"	"HGNC:29077"	"IFT140"	"MONDO:0009964"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"OMIM:266920"	"OMIM:266920"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29077"	"IFT140"	"OMIM:266920"	"MAINZER-SALDINO SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22503633"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113534"	"2023-09-11"
"GENCC_000112-HGNC_26031-OMIM_239300-HP_0000007-GENCC_100001"	"HGNC:26031"	"PIGV"	"MONDO:0009398"	"hyperphosphatasia with intellectual disability syndrome 1"	"OMIM:239300"	"OMIM:239300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26031"	"PIGV"	"OMIM:239300"	"HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20802478,17351347"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113535"	"2023-09-11"
"GENCC_000112-HGNC_7391-OMIM_608874-HP_0000006-GENCC_100001"	"HGNC:7391"	"MSX1"	"MONDO:0012142"	"orofacial cleft 5"	"OMIM:608874"	"OMIM:608874"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7391"	"MSX1"	"OMIM:608874"	"CLEFT LIP +/- CLEFT PALATE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15354328,12807959,11369996"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113536"	"2023-09-11"
"GENCC_000112-HGNC_6814-OMIM_615547-HP_0012275-GENCC_100001"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"OMIM:615547"	"OMIM:615547"	"GENCC:100001"	"Definitive"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting HP:0012275"	"GENCC:000112"	"G2P"	"HGNC:6814"	"MAGEL2"	"OMIM:615547"	"Schaaf-Yang syndrome"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:14"	""	""	"27195816, 24076603"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"86"	"2020-11-25"
"GENCC_000112-HGNC_11386-OMIM_160565-HP_0000006-GENCC_100004"	"HGNC:11386"	"STIM1"	"MONDO:0024531"	"myopathy, tubular aggregate, 1"	"OMIM:160565"	"OMIM:160565"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11386"	"STIM1"	"OMIM:160565"	"TUBULAR-AGGREGATE MYOPATHY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23332920"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113538"	"2023-09-11"
"GENCC_000112-HGNC_11005-OMIM_606777-HP_0000006-GENCC_100001"	"HGNC:11005"	"SLC2A1"	"MONDO:0011724"	"encephalopathy due to GLUT1 deficiency"	"OMIM:606777"	"OMIM:606777"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11005"	"SLC2A1"	"OMIM:606777"	"Glucose Transporter Type 1 Deficiency Syndrome"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1714544,11136715,19901175,18606970,19630075,18451999,18403583,14605501,11603379,18577546,10980529,20221955,9462754"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113539"	"2023-09-11"
"GENCC_000112-HGNC_20670-OMIM_200110-HP_0000006-GENCC_100001"	"HGNC:20670"	"TWIST2"	"MONDO:0008693"	"ablepharon macrostomia syndrome"	"OMIM:200110"	"OMIM:200110"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20670"	"TWIST2"	"OMIM:200110"	"ABLEPHARON MACROSTOMIA SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"26119818"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113540"	"2023-09-11"
"GENCC_000112-HGNC_2799-OMIM_616029-HP_0000007-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0014460"	"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"OMIM:616029"	"OMIM:616029"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2799"	"GRHL2"	"OMIM:616029"	"ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113541"	"2023-09-11"
"GENCC_000112-HGNC_4799-OMIM_231530-HP_0000007-GENCC_100001"	"HGNC:4799"	"HADH"	"MONDO:0017715"	"3-hydroxyacyl-CoA dehydrogenase deficiency"	"OMIM:231530"	"OMIM:231530"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4799"	"HADH"	"OMIM:231530"	"3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113542"	"2023-09-11"
"GENCC_000112-HGNC_4220-OMIM_200700-HP_0000007-GENCC_100001"	"HGNC:4220"	"GDF5"	"MONDO:0008703"	"acromesomelic dysplasia 2A"	"OMIM:200700"	"OMIM:200700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4220"	"GDF5"	"OMIM:200700"	"ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16222676,12900894,9288098,18629880,12124730,2703235,12121354"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113544"	"2023-09-11"
"GENCC_000112-HGNC_8512-OMIM_311250-HP_0001419-GENCC_100001"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"OMIM:311250"	"OMIM:311250"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8512"	"OTC"	"OMIM:311250"	"ORNITHINE TRANSCARBAMYLASE DEFICIENCY"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:15"	""	""	"1721894, 2035531, 11260212, 10405441, 2843770, 1353535, 1480464, 7860064, 2347583, 3170748, 9056557, 2037279"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"95"	"2020-11-25"
"GENCC_000112-HGNC_30578-OMIM_615028-HP_0000007-GENCC_100002"	"HGNC:30578"	"EXPH5"	"MONDO:0014014"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"OMIM:615028"	"OMIM:615028"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30578"	"EXPH5"	"OMIM:615028"	"INHERITED SKIN FRAGILITY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23176819"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113546"	"2023-09-11"
"GENCC_000112-HGNC_11642-OMIM_613270-HP_0000006-GENCC_100004"	"HGNC:11642"	"ZEB1"	"MONDO:0013206"	"corneal dystrophy, Fuchs endothelial, 6"	"OMIM:613270"	"OMIM:613270"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11642"	"ZEB1"	"OMIM:613270"	"CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113547"	"2023-09-11"
"GENCC_000112-HGNC_2398-OMIM_604307-HP_0000006-GENCC_100001"	"HGNC:2398"	"CRYBB2"	"MONDO:0100436"	"cataract 2, multiple types"	"OMIM:604307"	"OMIM:604307"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2398"	"CRYBB2"	"OMIM:604307"	"CATARACT, COPPOCK-LIKE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113548"	"2023-09-11"
"GENCC_000112-HGNC_11367-OMIM_245590-HP_0000007-GENCC_100002"	"HGNC:11367"	"STAT5B"	"MONDO:0100211"	"growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"OMIM:245590"	"OMIM:245590"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11367"	"STAT5B"	"OMIM:245590"	"GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"13679528"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113549"	"2023-09-11"
"GENCC_000112-HGNC_10524-OMIM_107480-HP_0000006-GENCC_100001"	"HGNC:10524"	"SALL1"	"MONDO:0054581"	"Townes-Brocks syndrome 1"	"OMIM:107480"	"OMIM:107480"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10524"	"SALL1"	"OMIM:107480"	"TOWNES-BROCKS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14755477,9973281,9425907,17431915,18000979,10928856,11484202,10533063"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113550"	"2023-09-11"
"GENCC_000112-HGNC_8789-OMIM_613582-HP_0000007-GENCC_100001"	"HGNC:8789"	"PDE6G"	"MONDO:0013315"	"retinitis pigmentosa 57"	"OMIM:613582"	"OMIM:613582"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8789"	"PDE6G"	"OMIM:613582"	"RETINITIS PIGMENTOSA 57"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20655036"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113551"	"2023-09-11"
"GENCC_000112-HGNC_13387-OMIM_615415-HP_0000007-GENCC_100002"	"HGNC:13387"	"NEK8"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"OMIM:615415"	"OMIM:615415"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13387"	"NEK8"	"OMIM:615415"	"RENAL-HEPATIC-PANCREATIC DYSPLASIA 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23418306"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113552"	"2023-09-11"
"GENCC_000112-HGNC_15532-OMIM_613730-HP_0000007-GENCC_100002"	"HGNC:15532"	"JAM3"	"MONDO:0013394"	"porencephaly-microcephaly-bilateral congenital cataract syndrome"	"OMIM:613730"	"OMIM:613730"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15532"	"JAM3"	"OMIM:613730"	"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23255084,21109224"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113553"	"2023-09-11"
"GENCC_000112-HGNC_19082-OMIM_616266-HP_0000006-GENCC_100001"	"HGNC:19082"	"NALCN"	"MONDO:0014556"	"congenital contractures of the limbs and face, hypotonia, and developmental delay"	"OMIM:616266"	"OMIM:616266"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19082"	"NALCN"	"OMIM:616266"	"CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25683120"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113554"	"2023-09-11"
"GENCC_000112-HGNC_12765-OMIM_601705-HP_0000007-GENCC_100001"	"HGNC:12765"	"FOXN1"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"OMIM:601705"	"OMIM:601705"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12765"	"FOXN1"	"OMIM:601705"	"ALOPECIA AND T-CELL IMMUNODEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8911612"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113555"	"2023-09-11"
"GENCC_000112-HGNC_26291-OMIM_615987-HP_0000007-GENCC_100001"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"OMIM:615987"	"OMIM:615987"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26291"	"BBS10"	"OMIM:615987"	"BARDET-BIEDL SYNDROME TYPE 10"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20805367,16582908,26762677"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113556"	"2023-09-11"
"GENCC_000112-HGNC_19261-OMIM_614702-HP_0000007-GENCC_100001"	"HGNC:19261"	"MTO1"	"MONDO:0013865"	"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"OMIM:614702"	"OMIM:614702"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19261"	"MTO1"	"OMIM:614702"	"INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22608499"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113557"	"2023-09-11"
"GENCC_000112-HGNC_24678-OMIM_612938-HP_0000007-GENCC_100004"	"HGNC:24678"	"FTO"	"MONDO:0013050"	"lethal polymalformative syndrome, Boissel type"	"OMIM:612938"	"OMIM:612938"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24678"	"FTO"	"OMIM:612938"	"GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"19559399"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113558"	"2023-09-11"
"GENCC_000112-HGNC_1967-OMIM_265000-HP_0000007-GENCC_100001"	"HGNC:1967"	"CHRNG"	"MONDO:0009926"	"autosomal recessive multiple pterygium syndrome"	"OMIM:265000"	"OMIM:265000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1967"	"CHRNG"	"OMIM:265000"	"MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16826520"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113560"	"2023-09-11"
"GENCC_000112-HGNC_17198-OMIM_605282-HP_0000007-GENCC_100001"	"HGNC:17198"	"CHSY1"	"MONDO:0011533"	"temtamy preaxial brachydactyly syndrome"	"OMIM:605282"	"OMIM:605282"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17198"	"CHSY1"	"OMIM:605282"	"TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9823490,19952732,21129727,21129728"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113561"	"2023-09-11"
"GENCC_000112-HGNC_30391-OMIM_266920-HP_0000007-GENCC_100001"	"HGNC:30391"	"IFT172"	"MONDO:0009964"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"OMIM:266920"	"OMIM:266920"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30391"	"IFT172"	"OMIM:266920"	"MAINZER-SALDINO SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24140113"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113563"	"2023-09-11"
"GENCC_000112-HGNC_21474-OMIM_610156-HP_0000007-GENCC_100001"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"OMIM:610156"	"OMIM:610156"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21474"	"INPP5E"	"OMIM:610156"	"INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19668215"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113564"	"2023-09-11"
"GENCC_000112-HGNC_1391-OMIM_614896-HP_0000007-GENCC_100002"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"OMIM:614896"	"OMIM:614896"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1391"	"CACNA1D"	"OMIM:614896"	"SINOATRIAL NODE DYSFUNCTION AND DEAFNESS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21131953"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113565"	"2023-09-11"
"GENCC_000112-HGNC_4174-OMIM_614474-HP_0000006-GENCC_100001"	"HGNC:4174"	"GATA6"	"MONDO:0013769"	"atrioventricular septal defect 5"	"OMIM:614474"	"OMIM:614474"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4174"	"GATA6"	"OMIM:614474"	"ATRIOVENTRICULAR SEPTAL DEFECT 5"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20581743"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113566"	"2023-09-11"
"GENCC_000112-HGNC_19191-OMIM_243700-HP_0000007-GENCC_100001"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"OMIM:243700"	"OMIM:243700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19191"	"DOCK8"	"OMIM:243700"	"HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19776401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113567"	"2023-09-11"
"GENCC_000112-HGNC_30521-OMIM_229050-HP_0000007-GENCC_100001"	"HGNC:30521"	"SLC46A1"	"MONDO:0009238"	"hereditary folate malabsorption"	"OMIM:229050"	"OMIM:229050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30521"	"SLC46A1"	"OMIM:229050"	"HEREDITARY FOLATE MALABSORPTION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18559978,17446347,20795774,11807405,11804211,21333572"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113568"	"2023-09-11"
"GENCC_000112-HGNC_2933-OMIM_160900-HP_0000006-GENCC_100001"	"HGNC:2933"	"DMPK"	"MONDO:0008056"	"myotonic dystrophy type 1"	"OMIM:160900"	"OMIM:160900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2933"	"DMPK"	"OMIM:160900"	"DYSTROPHIA MYOTONICA TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113569"	"2023-09-11"
"GENCC_000112-HGNC_318-OMIM_208400-HP_0000007-GENCC_100001"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"OMIM:208400"	"OMIM:208400"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:318"	"AGA"	"OMIM:208400"	"ASPARTYLGLUCOSAMINURIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"6883788,8776587,1765378"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113570"	"2023-09-11"
"GENCC_000112-HGNC_2481-OMIM_607936-HP_0000007-GENCC_100002"	"HGNC:2481"	"CSTA"	"MONDO:0011937"	"peeling skin syndrome 4"	"OMIM:607936"	"OMIM:607936"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2481"	"CSTA"	"OMIM:607936"	"EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21944047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113571"	"2023-09-11"
"GENCC_000112-HGNC_26054-OMIM_205950-HP_0000007-GENCC_100001"	"HGNC:26054"	"SLC25A38"	"MONDO:0008785"	"sideroblastic anemia 2"	"OMIM:205950"	"OMIM:205950"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26054"	"SLC25A38"	"OMIM:205950"	"ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19412178"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113572"	"2023-09-11"
"GENCC_000112-HGNC_2187-OMIM_215150-HP_0000007-GENCC_100001"	"HGNC:2187"	"COL11A2"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"OMIM:215150"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2187"	"COL11A2"	"OMIM:215150"	"AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16637051,7859284,16189708,10677296"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113573"	"2023-09-11"
"GENCC_000112-HGNC_2918-OMIM_220600-HP_0000007-GENCC_100004"	"HGNC:2918"	"DLX5"	"MONDO:0009080"	"split hand-foot malformation 1 with sensorineural hearing loss"	"OMIM:220600"	"OMIM:220600"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2918"	"DLX5"	"OMIM:220600"	"SPLIT HAND AND FOOT MALFORMATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"22121204"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113574"	"2023-09-11"
"GENCC_000112-HGNC_57-OMIM_614473-HP_0000007-GENCC_100001"	"HGNC:57"	"ABCC6"	"MONDO:0013768"	"arterial calcification, generalized, of infancy, 2"	"OMIM:614473"	"OMIM:614473"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:57"	"ABCC6"	"OMIM:614473"	"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22209248,10835642,10811882,10835643"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113576"	"2023-09-11"
"GENCC_000112-HGNC_3776-OMIM_309548-HP_0001419-GENCC_100001"	"HGNC:3776"	"AFF2"	"MONDO:0010659"	"FRAXE intellectual disability"	"OMIM:309548"	"OMIM:309548"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3776"	"AFF2"	"OMIM:309548"	"FRAGILE X-E MENTAL RETARDATION SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:17"	""	""	"21739600, 8334699"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"127"	"2020-11-25"
"GENCC_000112-HGNC_14508-OMIM_611719-HP_0000007-GENCC_100002"	"HGNC:14508"	"MRPS22"	"MONDO:0012718"	"hypotonia with lactic acidemia and hyperammonemia"	"OMIM:611719"	"OMIM:611719"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14508"	"MRPS22"	"OMIM:611719"	"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"17873122"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113578"	"2023-09-11"
"GENCC_000112-HGNC_5099-OMIM_601536-HP_0000007-GENCC_100001"	"HGNC:5099"	"HOXA1"	"MONDO:0011099"	"human HOXA1 syndromes"	"OMIM:601536"	"OMIM:601536"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5099"	"HOXA1"	"OMIM:601536"	"BOSLEY-SALIH-ALORAINY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18412118,16155570"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113579"	"2023-09-11"
"GENCC_000112-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100001"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"OMIM:604213"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"CHUDLEY-MCCULLOUGH SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22578326"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113581"	"2023-09-11"
"GENCC_000112-HGNC_3133-OMIM_302960-HP_0001423-GENCC_100001"	"HGNC:3133"	"EBP"	"MONDO:0026782"	"chondrodysplasia punctata 2, X-linked dominant"	"OMIM:302960"	"OMIM:302960"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:3133"	"EBP"	"OMIM:302960"	"CHONDRODYSPLASIA PUNCTATA 2, X-LINKED"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:17"	""	""	"10391219, 10942423, 11038443, 12503101, 10391218"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"135"	"2020-11-25"
"GENCC_000112-HGNC_1391-OMIM_615474-HP_0000006-GENCC_100002"	"HGNC:1391"	"CACNA1D"	"MONDO:0014200"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"OMIM:615474"	"OMIM:615474"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1391"	"CACNA1D"	"OMIM:615474"	"PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23913001"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113585"	"2023-09-11"
"GENCC_000112-HGNC_9545-OMIM_256040-HP_0000007-GENCC_100001"	"HGNC:9545"	"PSMB8"	"MONDO:0054698"	"proteasome-associated autoinflammatory syndrome 1"	"OMIM:256040"	"OMIM:256040"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9545"	"PSMB8"	"OMIM:256040"	"NAKAJO SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21881205,21852578,21129723,21953331"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113586"	"2023-09-11"
"GENCC_000112-HGNC_19082-OMIM_615419-HP_0000007-GENCC_100001"	"HGNC:19082"	"NALCN"	"MONDO:0024567"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 1"	"OMIM:615419"	"OMIM:615419"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19082"	"NALCN"	"OMIM:615419"	"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23749988,24075186"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113587"	"2023-09-11"
"GENCC_000112-HGNC_6494-OMIM_614115-HP_0000007-GENCC_100001"	"HGNC:6494"	"LAMC3"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"OMIM:614115"	"OMIM:614115"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6494"	"LAMC3"	"OMIM:614115"	"OCCIPITAL CORTICAL MALFORMATIONS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21572413"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113589"	"2023-09-11"
"GENCC_000112-HGNC_9005-OMIM_137600-HP_0000006-GENCC_100001"	"HGNC:9005"	"PITX2"	"MONDO:0007662"	"anterior segment dysgenesis 4"	"OMIM:137600"	"OMIM:137600"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9005"	"PITX2"	"OMIM:137600"	"Anterior segment dysgenesis 4"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-08-30 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113231"	"2023-09-11"
"GENCC_000112-HGNC_12831-OMIM_615272-HP_0000007-GENCC_100001"	"HGNC:12831"	"XRCC4"	"MONDO:0014108"	"Fanconi anemia complementation group Q"	"OMIM:615272"	"OMIM:615272"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12831"	"XRCC4"	"OMIM:615272"	"PRIMORDIAL DWARFISM"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25728776"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113590"	"2023-09-11"
"GENCC_000112-HGNC_6903-OMIM_250850-HP_0000007-GENCC_100002"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"OMIM:250850"	"OMIM:250850"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6903"	"MAT1A"	"OMIM:250850"	"METHIONINE ADENOSYLTRANSFERASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"8770875,1527987,3812486,1683972,7560086,10677294,4421454,7229751"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113591"	"2023-09-11"
"GENCC_000112-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100001"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"OMIM:614134"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"STICKLER SYNDROME TYPE 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16909383"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113593"	"2023-09-11"
"GENCC_000112-HGNC_2488-OMIM_108900-HP_0000006-GENCC_100001"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"OMIM:108900"	"OMIM:108900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2488"	"NKX2-5"	"OMIM:108900"	"ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113594"	"2023-09-11"
"GENCC_000112-HGNC_11634-OMIM_610954-HP_0000006-GENCC_100001"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"OMIM:610954"	"OMIM:610954"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11634"	"TCF4"	"OMIM:610954"	"PITT-HOPKINS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22670824,20184619,29695756,27132474,18728071,19235238,17436255,23528641,22045651,19938247,30848346,29604340,20205897,17436254"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113595"	"2023-09-11"
"GENCC_000112-HGNC_13780-OMIM_609060-HP_0000007-GENCC_100001"	"HGNC:13780"	"GFM1"	"MONDO:0012191"	"hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	"OMIM:609060"	"OMIM:609060"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13780"	"GFM1"	"OMIM:609060"	"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17160893"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113596"	"2023-09-11"
"GENCC_000112-HGNC_12410-OMIM_613180-HP_0000007-GENCC_100004"	"HGNC:12410"	"TUBA8"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"OMIM:613180"	"OMIM:613180"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12410"	"TUBA8"	"OMIM:613180"	"POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"19896110"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113597"	"2023-09-11"
"GENCC_000112-HGNC_5466-OMIM_180860-HP_0012275-GENCC_100001"	"HGNC:5466"	"IGF2"	"MONDO:0020796"	"Silver-Russell syndrome 1"	"OMIM:180860"	"OMIM:180860"	"GENCC:100001"	"Definitive"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting HP:0012275"	"GENCC:000112"	"G2P"	"HGNC:5466"	"IGF2"	"OMIM:180860"	"CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:18"	""	""	"26154720"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"150"	"2020-11-25"
"GENCC_000112-HGNC_3689-OMIM_123500-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"OMIM:123500"	"OMIM:123500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3689"	"FGFR2"	"OMIM:123500"	"CROUZON SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7581378,7987400,9152842,15523492,7874170,22038757,7607643,7655462,9677057,8528214,17621648"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113599"	"2023-09-11"
"GENCC_000112-HGNC_969-OMIM_615982-HP_0000007-GENCC_100001"	"HGNC:969"	"BBS4"	"MONDO:0014433"	"Bardet-Biedl syndrome 4"	"OMIM:615982"	"OMIM:615982"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:969"	"BBS4"	"OMIM:615982"	"BARDET-BIEDL SYNDROME TYPE 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11381270,12016587"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113600"	"2023-09-11"
"GENCC_000112-HGNC_16068-OMIM_210720-HP_0000007-GENCC_100001"	"HGNC:16068"	"PCNT"	"MONDO:0008872"	"microcephalic osteodysplastic primordial dwarfism type II"	"OMIM:210720"	"OMIM:210720"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16068"	"PCNT"	"OMIM:210720"	"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15372530,19839044,18174396"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113602"	"2023-09-11"
"GENCC_000112-HGNC_1149-OMIM_257300-HP_0000007-GENCC_100001"	"HGNC:1149"	"BUB1B"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"OMIM:257300"	"OMIM:257300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1149"	"BUB1B"	"OMIM:257300"	"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21190457,16411201,11169558,15475955,9916837"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113603"	"2023-09-11"
"GENCC_000112-HGNC_3519-OMIM_113650-HP_0000006-GENCC_100001"	"HGNC:3519"	"EYA1"	"MONDO:0007236"	"branchiootorenal syndrome 1"	"OMIM:113650"	"OMIM:113650"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3519"	"EYA1"	"OMIM:113650"	"BRANCHIOOTORENAL SYNDROME TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9361030,9020840,10655545,16441263,19206155,5365063"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113604"	"2023-09-11"
"GENCC_000112-HGNC_17996-OMIM_237310-HP_0000007-GENCC_100001"	"HGNC:17996"	"NAGS"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"OMIM:237310"	"OMIM:237310"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17996"	"NAGS"	"OMIM:237310"	"N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12754705,12594532"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113605"	"2023-09-11"
"GENCC_000112-HGNC_11133-OMIM_609528-HP_0000007-GENCC_100002"	"HGNC:11133"	"SNAP29"	"MONDO:0012290"	"CEDNIK syndrome"	"OMIM:609528"	"OMIM:609528"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11133"	"SNAP29"	"OMIM:609528"	"CEDNIK SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21073448,15968592"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113606"	"2023-09-11"
"GENCC_000112-HGNC_11592-OMIM_188400-HP_0000006-GENCC_100001"	"HGNC:11592"	"TBX1"	"MONDO:0008564"	"DiGeorge syndrome"	"OMIM:188400"	"OMIM:188400"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11592"	"TBX1"	"OMIM:188400"	"22Q11.2 DELETION SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14585638"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113607"	"2023-09-11"
"GENCC_000112-HGNC_10985-OMIM_238970-HP_0000007-GENCC_100001"	"HGNC:10985"	"SLC25A15"	"MONDO:0009393"	"ornithine translocase deficiency"	"OMIM:238970"	"OMIM:238970"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10985"	"SLC25A15"	"OMIM:238970"	"HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19242930,11355015,16940241,10369256,11552031"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113609"	"2023-09-11"
"GENCC_000112-HGNC_9725-OMIM_232700-HP_0000007-GENCC_100001"	"HGNC:9725"	"PYGL"	"MONDO:0009294"	"glycogen storage disease VI"	"OMIM:232700"	"OMIM:232700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9725"	"PYGL"	"OMIM:232700"	"GLYCOGEN STORAGE DISEASE TYPE VI"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9536091,9529348"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113610"	"2023-09-11"
"GENCC_000112-HGNC_21701-OMIM_614498-HP_0000007-GENCC_100002"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"OMIM:614498"	"OMIM:614498"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21701"	"BRAT1"	"OMIM:614498"	"LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22279524"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113611"	"2023-09-11"
"GENCC_000112-HGNC_869-OMIM_300489-HP_0001419-GENCC_100001"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"OMIM:300489"	"OMIM:300489"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:869"	"ATP7A"	"OMIM:300489"	"SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:19"	""	""	"19153371, 20170900"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"164"	"2020-11-25"
"GENCC_000112-HGNC_30220-OMIM_612015-HP_0000007-GENCC_100002"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"OMIM:612015"	"OMIM:612015"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30220"	"RFT1"	"OMIM:612015"	"CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"18313027"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113613"	"2023-09-11"
"GENCC_000112-HGNC_9722-OMIM_601162-HP_0000006-GENCC_100001"	"HGNC:9722"	"ALDH18A1"	"MONDO:0011006"	"hereditary spastic paraplegia 9A"	"OMIM:601162"	"OMIM:601162"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9722"	"ALDH18A1"	"OMIM:601162"	"SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"26297558,26026163,26297557"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113614"	"2023-09-11"
"GENCC_000112-HGNC_9721-OMIM_612940-HP_0000007-GENCC_100001"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"OMIM:612940"	"OMIM:612940"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9721"	"PYCR1"	"OMIM:612940"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18304158,19648921,19576563,16045708,18348262,11424136"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113615"	"2023-09-11"
"GENCC_000112-HGNC_4226-OMIM_300849-HP_0001419-GENCC_100001"	"HGNC:4226"	"GDI1"	"MONDO:0010451"	"intellectual disability, X-linked 41"	"OMIM:300849"	"OMIM:300849"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:4226"	"GDI1"	"OMIM:300849"	"MENTAL RETARDATION X-LINKED TYPE 48"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:45"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"702"	"2020-11-25"
"GENCC_000112-HGNC_25223-OMIM_607426-HP_0000007-GENCC_100001"	"HGNC:25223"	"COQ2"	"MONDO:0011829"	"coenzyme Q10 deficiency, primary, 1"	"OMIM:607426"	"OMIM:607426"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25223"	"COQ2"	"OMIM:607426"	"COENZYME Q10 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17332895"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113617"	"2023-09-11"
"GENCC_000112-HGNC_4313-OMIM_605899-HP_0000007-GENCC_100001"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"OMIM:605899"	"OMIM:605899"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4313"	"GLDC"	"OMIM:605899"	"GLDC-RELATED GLYCINE ENCEPHALOPATHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1634607,15864413,15824356,8005589,15851735,9600239,15236413,10873393,9621520,10798358,11592811,445864"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113618"	"2023-09-11"
"GENCC_000112-HGNC_6470-OMIM_303350-HP_0001419-GENCC_100001"	"HGNC:6470"	"L1CAM"	"MONDO:0010559"	"MASA syndrome"	"OMIM:303350"	"OMIM:303350"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:6470"	"L1CAM"	"OMIM:303350"	"SPASTIC PARAPLEGIA X-LINKED TYPE 1"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:15:19"	""	""	"7920660, 7920659, 3460961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1366"	"2020-11-25"
"GENCC_000112-HGNC_14378-OMIM_224230-HP_0000007-GENCC_100004"	"HGNC:14378"	"NOP10"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"OMIM:224230"	"OMIM:224230"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14378"	"NOP10"	"OMIM:224230"	"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"17507419"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113620"	"2023-09-11"
"GENCC_000112-HGNC_7207-OMIM_612379-HP_0000007-GENCC_100001"	"HGNC:7207"	"MPDU1"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7207"	"MPDU1"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11733556,11733564"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113621"	"2023-09-11"
"GENCC_000112-HGNC_2200-OMIM_200610-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"OMIM:200610"	"OMIM:200610"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2200"	"COL2A1"	"OMIM:200610"	"ACHONDROGENESIS TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14729840,15054848,7757081,3195588,1429602,7829510,1374906"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113623"	"2023-09-11"
"GENCC_000112-HGNC_9069-OMIM_613723-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0013390"	"autosomal recessive limb-girdle muscular dystrophy type 2Q"	"OMIM:613723"	"OMIM:613723"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9069"	"PLEC"	"OMIM:613723"	"Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"35579050"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113624"	"2023-09-11"
"GENCC_000112-HGNC_3584-OMIM_227645-HP_0000007-GENCC_100001"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"OMIM:227645"	"OMIM:227645"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3584"	"FANCC"	"OMIM:227645"	"FANCONI ANEMIA, COMPLEMENTATION GROUP C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10431244,20869034,8348157"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113627"	"2023-09-11"
"GENCC_000112-HGNC_13830-OMIM_610042-HP_0000007-GENCC_100001"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"OMIM:610042"	"OMIM:610042"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13830"	"CNTNAP2"	"OMIM:610042"	"CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11568923,19896112,16571880"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113628"	"2023-09-11"
"GENCC_000112-HGNC_11109-OMIM_135900-HP_0000006-GENCC_100002"	"HGNC:11109"	"SMARCE1"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"OMIM:135900"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11109"	"SMARCE1"	"OMIM:135900"	"COFFIN SIRIS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22426308"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113629"	"2023-09-11"
"GENCC_000112-HGNC_2718-OMIM_278740-HP_0000007-GENCC_100001"	"HGNC:2718"	"DDB2"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"OMIM:278740"	"OMIM:278740"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2718"	"DDB2"	"OMIM:278740"	"XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8798680,10469312,12812979"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113632"	"2023-09-11"
"GENCC_000112-HGNC_3690-OMIM_602849-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"OMIM:602849"	"OMIM:602849"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3690"	"FGFR3"	"OMIM:602849"	"MUENKE SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113633"	"2023-09-11"
"GENCC_000112-HGNC_8979-OMIM_269880-HP_0000006-GENCC_100001"	"HGNC:8979"	"PIK3R1"	"MONDO:0010026"	"SHORT syndrome"	"OMIM:269880"	"OMIM:269880"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8979"	"PIK3R1"	"OMIM:269880"	"SHORT SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23810378,28472977,23810379"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113634"	"2023-09-11"
"GENCC_000112-HGNC_2183-OMIM_216550-HP_0000007-GENCC_100001"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"OMIM:216550"	"OMIM:216550"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2183"	"VPS13B"	"OMIM:216550"	"COHEN SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"31580008"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113635"	"2023-09-11"
"GENCC_000112-HGNC_3435-OMIM_610651-HP_0000007-GENCC_100001"	"HGNC:3435"	"ERCC3"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"OMIM:610651"	"OMIM:610651"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3435"	"ERCC3"	"OMIM:610651"	"XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16947863,4811796,8408834"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113636"	"2023-09-11"
"GENCC_000112-HGNC_11120-OMIM_257200-HP_0000007-GENCC_100001"	"HGNC:11120"	"SMPD1"	"MONDO:0009756"	"Niemann-Pick disease type A"	"OMIM:257200"	"OMIM:257200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11120"	"SMPD1"	"OMIM:257200"	"NIEMANN-PICK DISEASE TYPE A"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12369017,1301192,1885770,8401540,8051942,12607113,9266408,19405096,1391960,2023926,1718266"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113637"	"2023-09-11"
"GENCC_000112-HGNC_12783-OMIM_611812-HP_0000007-GENCC_100002"	"HGNC:12783"	"WNT4"	"MONDO:0012734"	"SERKAL syndrome"	"OMIM:611812"	"OMIM:611812"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12783"	"WNT4"	"OMIM:611812"	"SERKAL SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"18179883"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113638"	"2023-09-11"
"GENCC_000112-HGNC_4335-OMIM_606762-HP_0000006-GENCC_100001"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"OMIM:606762"	"OMIM:606762"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4335"	"GLUD1"	"OMIM:606762"	"HYPERINSULINISM-HYPERAMMONEMIA SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9571255,10636977,11214910"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113639"	"2023-09-11"
"GENCC_000112-HGNC_4801-OMIM_609016-HP_0000007-GENCC_100001"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"OMIM:609016"	"OMIM:609016"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4801"	"HADHA"	"OMIM:609016"	"LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7811722"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113641"	"2023-09-11"
"GENCC_000112-HGNC_3754-OMIM_300244-HP_0001419-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010279"	"terminal osseous dysplasia-pigmentary defects syndrome"	"OMIM:300244"	"OMIM:300244"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:300244"	"TERMINAL OSSEOUS DYSPLASIA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:21"	""	""	"10982965"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"195"	"2020-11-25"
"GENCC_000112-HGNC_19714-OMIM_615030-HP_0000007-GENCC_100001"	"HGNC:19714"	"DDHD1"	"MONDO:0014015"	"hereditary spastic paraplegia 56"	"OMIM:615030"	"OMIM:615030"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19714"	"DDHD1"	"OMIM:615030"	"HEREDITARY SPASTIC PARAPLEGIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15786464,23176821"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113643"	"2023-09-11"
"GENCC_000112-HGNC_16187-OMIM_211530-HP_0000007-GENCC_100001"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"OMIM:211530"	"OMIM:211530"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16187"	"SLC52A3"	"OMIM:211530"	"BROWN-VIALETTO-VAN LAERE SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21110228,16122634,20206331,20920669"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113644"	"2023-09-11"
"GENCC_000112-HGNC_30892-OMIM_300706-HP_0001423-GENCC_100001"	"HGNC:30892"	"HUWE1"	"MONDO:0010407"	"intellectual disability, X-linked syndromic, Turner type"	"OMIM:300706"	"OMIM:300706"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:30892"	"HUWE1"	"OMIM:300706"	"MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:21"	""	""	"18252223, 29180823, 23721686"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"199"	"2020-11-25"
"GENCC_000112-HGNC_2961-OMIM_158600-HP_0000006-GENCC_100001"	"HGNC:2961"	"DYNC1H1"	"MONDO:0008026"	"autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"	"OMIM:158600"	"OMIM:158600"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2961"	"DYNC1H1"	"OMIM:158600"	"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"28554554,24307404,22459677,25484024,29306600,27066557,30122514,28193117,25609763"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113647"	"2023-09-11"
"GENCC_000112-HGNC_29634-OMIM_614399-HP_0000007-GENCC_100001"	"HGNC:29634"	"MEGF10"	"MONDO:0013731"	"MEGF10-related myopathy"	"OMIM:614399"	"OMIM:614399"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29634"	"MEGF10"	"OMIM:614399"	"MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22371254,22101682,17236770"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113648"	"2023-09-11"
"GENCC_000112-HGNC_16002-OMIM_234050-HP_0000007-GENCC_100001"	"HGNC:16002"	"MPLKIP"	"MONDO:0021013"	"trichothiodystrophy 4, nonphotosensitive"	"OMIM:234050"	"OMIM:234050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16002"	"MPLKIP"	"OMIM:234050"	"TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113651"	"2023-09-11"
"GENCC_000112-HGNC_6470-OMIM_307000-HP_0001419-GENCC_100001"	"HGNC:6470"	"L1CAM"	"MONDO:0010611"	"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"	"OMIM:307000"	"OMIM:307000"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:6470"	"L1CAM"	"OMIM:307000"	"HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:21"	""	""	"18136715, 7881431, 15148591, 9643285, 11857550, 15368500, 8401576, 1303258, 9279760, 8401593, 7920659, 8929944"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"205"	"2020-11-25"
"GENCC_000112-HGNC_12796-OMIM_194080-HP_0000006-GENCC_100001"	"HGNC:12796"	"WT1"	"MONDO:0008682"	"Denys-Drash syndrome"	"OMIM:194080"	"OMIM:194080"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12796"	"WT1"	"OMIM:194080"	"DENYS-DRASH SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9499425,1327525,1302008,8388765,1655284,1658787,10571943"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113653"	"2023-09-11"
"GENCC_000112-HGNC_17978-OMIM_271640-HP_0000007-GENCC_100001"	"HGNC:17978"	"B3GALT6"	"MONDO:0010075"	"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"OMIM:271640"	"OMIM:271640"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17978"	"B3GALT6"	"OMIM:271640"	"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23664117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113654"	"2023-09-11"
"GENCC_000112-HGNC_29861-OMIM_309300-HP_0001419-GENCC_100001"	"HGNC:29861"	"CHRDL1"	"MONDO:0010649"	"isolated congenital megalocornea"	"OMIM:309300"	"OMIM:309300"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:29861"	"CHRDL1"	"OMIM:309300"	"MEGALOCORNEA, X-LINKED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:21"	""	""	"22284829"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"209"	"2020-11-25"
"GENCC_000112-HGNC_3084-OMIM_616331-HP_0000006-GENCC_100001"	"HGNC:3084"	"DVL1"	"MONDO:0014591"	"autosomal dominant Robinow syndrome 2"	"OMIM:616331"	"OMIM:616331"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3084"	"DVL1"	"OMIM:616331"	"AUTOSOMAL-DOMINANT ROBINOW SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25817016"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113656"	"2023-09-11"
"GENCC_000112-HGNC_29043-OMIM_610805-HP_0000006-GENCC_100001"	"HGNC:29043"	"DSTYK"	"MONDO:0012561"	"congenital anomalies of kidney and urinary tract 1"	"OMIM:610805"	"OMIM:610805"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29043"	"DSTYK"	"OMIM:610805"	"CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23862974"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113658"	"2023-09-11"
"GENCC_000112-HGNC_6901-OMIM_257920-HP_0000007-GENCC_100001"	"HGNC:6901"	"MASP1"	"MONDO:0009770"	"3MC syndrome 1"	"OMIM:257920"	"OMIM:257920"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6901"	"MASP1"	"OMIM:257920"	"3MC SYNDROME 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21258343,21035106,17937425"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113661"	"2023-09-11"
"GENCC_000112-HGNC_10257-OMIM_268310-HP_0000007-GENCC_100001"	"HGNC:10257"	"ROR2"	"MONDO:0009999"	"autosomal recessive Robinow syndrome"	"OMIM:268310"	"OMIM:268310"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10257"	"ROR2"	"OMIM:268310"	"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"35344616,19640924,10932187,15952209,10932186,18831060"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113662"	"2023-09-11"
"GENCC_000112-HGNC_6235-OMIM_605259-HP_0000006-GENCC_100002"	"HGNC:6235"	"KCNC3"	"MONDO:0011529"	"spinocerebellar ataxia type 13"	"OMIM:605259"	"OMIM:605259"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6235"	"KCNC3"	"OMIM:605259"	"SPINOCEREBELLAR ATAXIA TYPE 13"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113663"	"2023-09-11"
"GENCC_000112-HGNC_7678-OMIM_310600-HP_0001419-GENCC_100001"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"OMIM:310600"	"OMIM:310600"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:7678"	"NDP"	"OMIM:310600"	"NORRIE DISEASE"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:21"	""	""	"9382152, 1303264, 8990009, 8240113, 8790105, 1307245, 17334993, 8069314, 7814011, 8268931, 9143918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"218"	"2020-11-25"
"GENCC_000112-HGNC_13013-OMIM_616268-HP_0000006-GENCC_100001"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"OMIM:616268"	"OMIM:616268"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13013"	"KAT6A"	"OMIM:616268"	"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 32"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25728775,27133397,30245513,25728777,31754438,29899504,35892268,30775047,32041641"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113665"	"2023-09-11"
"GENCC_000112-HGNC_20893-OMIM_300166-HP_0001423-GENCC_100001"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"OMIM:300166"	"OMIM:300166"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:20893"	"BCOR"	"OMIM:300166"	"MICROPHTHALMIA SYNDROMIC TYPE 2"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:22"	""	""	"15957158, 15004558, 15770227, 19367324"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"220"	"2020-11-25"
"GENCC_000112-HGNC_17759-OMIM_614651-HP_0000007-GENCC_100002"	"HGNC:17759"	"PDSS1"	"MONDO:0013837"	"deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"OMIM:614651"	"OMIM:614651"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17759"	"PDSS1"	"OMIM:614651"	"COENZYME Q10 DEFICIENCY, PRIMARY, 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"17332895"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113668"	"2023-09-11"
"GENCC_000112-HGNC_25396-OMIM_219000-HP_0000007-GENCC_100001"	"HGNC:25396"	"FREM2"	"MONDO:0054737"	"Fraser syndrome 1"	"OMIM:219000"	"OMIM:219000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25396"	"FREM2"	"OMIM:219000"	"FRASER SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113669"	"2023-09-11"
"GENCC_000112-HGNC_14262-OMIM_612100-HP_0000006-GENCC_100001"	"HGNC:14262"	"AUTS2"	"MONDO:0012801"	"autism, susceptibility to, 15"	"OMIM:612100"	"OMIM:612100"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14262"	"AUTS2"	"OMIM:612100"	"SYNDROMIC INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25205402,26545289,31788251,27075013,27531620,23650183,23332918,24459036"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113671"	"2023-09-11"
"GENCC_000112-HGNC_21406-OMIM_611523-HP_0000007-GENCC_100001"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"OMIM:611523"	"OMIM:611523"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21406"	"RARS2"	"OMIM:611523"	"PONTOCEREBELLAR HYPOPLASIA TYPE 6"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"34085948"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113672"	"2023-09-11"
"GENCC_000112-HGNC_6685-OMIM_608553-HP_0000007-GENCC_100002"	"HGNC:6685"	"LRAT"	"MONDO:0012056"	"Leber congenital amaurosis 9"	"OMIM:608553"	"OMIM:608553"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6685"	"LRAT"	"OMIM:608553"	"LEBER CONGENITAL AMAUROSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113674"	"2023-09-11"
"GENCC_000112-HGNC_20197-OMIM_266265-HP_0000007-GENCC_100001"	"HGNC:20197"	"SLC35C1"	"MONDO:0009953"	"leukocyte adhesion deficiency type II"	"OMIM:266265"	"OMIM:266265"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20197"	"SLC35C1"	"OMIM:266265"	"CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11326279,11326280"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113676"	"2023-09-11"
"GENCC_000112-HGNC_21637-OMIM_612313-HP_0000006-GENCC_100001"	"HGNC:21637"	"SATB2"	"MONDO:0012864"	"chromosome 2q32-q33 deletion syndrome"	"OMIM:612313"	"OMIM:612313"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21637"	"SATB2"	"OMIM:612313"	"GLASS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"29436146,31021519,35838081,30648748,31420882,31392730,17377962,24301056,29739092,28139846,25885067,30848049,28787087,28211976,28151491,27774744,26596517,31333717,24363063,30575289"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113677"	"2023-09-11"
"GENCC_000112-HGNC_11174-OMIM_601349-HP_0000006-GENCC_100004"	"HGNC:11174"	"SNX3"	"MONDO:0011045"	"MMEP syndrome"	"OMIM:601349"	"OMIM:601349"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11174"	"SNX3"	"OMIM:601349"	"MICROPHTHALMIA SYNDROMIC TYPE 8"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"12471201"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113678"	"2023-09-11"
"GENCC_000112-HGNC_7715-OMIM_252010-HP_0000007-GENCC_100001"	"HGNC:7715"	"NDUFS8"	"MONDO:0100224"	"mitochondrial complex I deficiency, nuclear type 1"	"OMIM:252010"	"OMIM:252010"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7715"	"NDUFS8"	"OMIM:252010"	"MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113679"	"2023-09-11"
"GENCC_000112-HGNC_3182-OMIM_615414-HP_0000007-GENCC_100004"	"HGNC:3182"	"PHC1"	"MONDO:0014173"	"microcephaly 11, primary, autosomal recessive"	"OMIM:615414"	"OMIM:615414"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3182"	"PHC1"	"OMIM:615414"	"PRIMARY MICROCEPHALY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23418308"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113680"	"2023-09-11"
"GENCC_000112-HGNC_10591-OMIM_170400-HP_0000006-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0042979"	"hypokalemic periodic paralysis, type 1"	"OMIM:170400"	"OMIM:170400"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10591"	"SCN4A"	"OMIM:170400"	"HYPOKALEMIC PERIODIC PARALYSIS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10851391,10599760,10944223,11591859,16890191"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113681"	"2023-09-11"
"GENCC_000112-HGNC_4214-OMIM_187500-HP_0000006-GENCC_100004"	"HGNC:4214"	"GDF1"	"MONDO:0008542"	"tetralogy of fallot"	"OMIM:187500"	"OMIM:187500"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4214"	"GDF1"	"OMIM:187500"	"TETRALOGY OF FALLOT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:23"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"239"	"2020-11-25"
"GENCC_000112-HGNC_4877-OMIM_182230-HP_0000007-GENCC_100002"	"HGNC:4877"	"HESX1"	"MONDO:0008428"	"septooptic dysplasia"	"OMIM:182230"	"OMIM:182230"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4877"	"HESX1"	"OMIM:182230"	"SEPTOOPTIC DYSPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113684"	"2023-09-11"
"GENCC_000112-HGNC_5961-OMIM_300584-HP_0001419-GENCC_100001"	"HGNC:5961"	"IKBKG"	"MONDO:0010368"	"immunodeficiency without anhidrotic ectodermal dysplasia"	"OMIM:300584"	"OMIM:300584"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:5961"	"IKBKG"	"OMIM:300584"	"IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:23"	""	""	"15577852, 15356572"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"242"	"2020-11-25"
"GENCC_000112-HGNC_2909-OMIM_277300-HP_0000007-GENCC_100001"	"HGNC:2909"	"DLL3"	"MONDO:0020692"	"spondylocostal dysostosis 1, autosomal recessive"	"OMIM:277300"	"OMIM:277300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2909"	"DLL3"	"OMIM:277300"	"SPONDYLOCOSTAL DYSOSTOSIS TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10742114,12791036,2805381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113686"	"2023-09-11"
"GENCC_000112-HGNC_9871-OMIM_608355-HP_0000006-GENCC_100004"	"HGNC:9871"	"RASA1"	"MONDO:0012017"	"Parkes Weber syndrome"	"OMIM:608355"	"OMIM:608355"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9871"	"RASA1"	"OMIM:608355"	"PARKES WEBER SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:23"	""	""	"14639529"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"244"	"2020-11-25"
"GENCC_000112-HGNC_3587-OMIM_603467-HP_0000007-GENCC_100001"	"HGNC:3587"	"FANCF"	"MONDO:0011325"	"Fanconi anemia complementation group F"	"OMIM:603467"	"OMIM:603467"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3587"	"FANCF"	"OMIM:603467"	"FANCONI ANEMIA, COMPLEMENTATION GROUP F"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"26033879,9382107,10615118"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113687"	"2023-09-11"
"GENCC_000112-HGNC_3700-OMIM_606812-HP_0000007-GENCC_100001"	"HGNC:3700"	"FH"	"MONDO:0011730"	"fumaric aciduria"	"OMIM:606812"	"OMIM:606812"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3700"	"FH"	"OMIM:606812"	"FUMARASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8200987,22069215"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113688"	"2023-09-11"
"GENCC_000112-HGNC_19139-OMIM_253280-HP_0000007-GENCC_100001"	"HGNC:19139"	"POMGNT1"	"MONDO:0009667"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	"OMIM:253280"	"OMIM:253280"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19139"	"POMGNT1"	"OMIM:253280"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3)"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11709191,17878207,15236414,19067344,12588800,19299310"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113689"	"2023-09-11"
"GENCC_000112-HGNC_10472-OMIM_119600-HP_0000006-GENCC_100001"	"HGNC:10472"	"RUNX2"	"MONDO:0007340"	"cleidocranial dysplasia 1"	"OMIM:119600"	"OMIM:119600"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10472"	"RUNX2"	"OMIM:119600"	"CLEIDOCRANIAL DYSPLASIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9207800,9182765,10545612,10521292,12424590,15952089,12081718"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113691"	"2023-09-11"
"GENCC_000112-HGNC_2410-OMIM_604219-HP_0000006-GENCC_100001"	"HGNC:2410"	"CRYGC"	"MONDO:0011413"	"cataract 9 multiple types"	"OMIM:604219"	"OMIM:604219"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2410"	"CRYGC"	"OMIM:604219"	"Cataract 2, multiple types"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10521291,10914683,12011157"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113692"	"2023-09-11"
"GENCC_000112-HGNC_8108-OMIM_309000-HP_0001419-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"OMIM:309000"	"OMIM:309000"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8108"	"OCRL"	"OMIM:309000"	"LOWE OCULOCEREBRORENAL SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:23"	""	""	"9632163"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"251"	"2020-11-25"
"GENCC_000112-HGNC_21478-OMIM_601346-HP_0000007-GENCC_100001"	"HGNC:21478"	"RFX6"	"MONDO:0011042"	"Martinez-Frias syndrome"	"OMIM:601346"	"OMIM:601346"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21478"	"RFX6"	"OMIM:601346"	"MARTINEZ-FRIAS SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15592663,20148032,19887127,18512226"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113694"	"2023-09-11"
"GENCC_000112-HGNC_15714-OMIM_220111-HP_0000007-GENCC_100001"	"HGNC:15714"	"LRPPRC"	"MONDO:0009069"	"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	"OMIM:220111"	"OMIM:220111"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15714"	"LRPPRC"	"OMIM:220111"	"LEIGH SYNDROME, FRENCH-CANADIAN TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12529507"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113695"	"2023-09-11"
"GENCC_000112-HGNC_8066-OMIM_271930-HP_0000007-GENCC_100002"	"HGNC:8066"	"NUP62"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"OMIM:271930"	"OMIM:271930"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8066"	"NUP62"	"OMIM:271930"	"INFANTILE STRIATONIGRAL DEGENERATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"16786527"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113696"	"2023-09-11"
"GENCC_000112-HGNC_7944-OMIM_602875-HP_0000007-GENCC_100001"	"HGNC:7944"	"NPR2"	"MONDO:0011275"	"acromesomelic dysplasia 1, Maroteaux type"	"OMIM:602875"	"OMIM:602875"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7944"	"NPR2"	"OMIM:602875"	"ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15146390"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113697"	"2023-09-11"
"GENCC_000112-HGNC_40038-OMIM_220110-HP_0000007-GENCC_100002"	"HGNC:40038"	"PET100"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"OMIM:220110"	"OMIM:220110"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:40038"	"PET100"	"OMIM:220110"	"MITOCHONDRIAL COMPLEX IV DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113698"	"2023-09-11"
"GENCC_000112-HGNC_16974-OMIM_136140-HP_0000006-GENCC_100001"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"OMIM:136140"	"OMIM:136140"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16974"	"SRCAP"	"OMIM:136140"	"FLOATING-HARBOR SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22965468,30425916,22265015,30304910,23621943,25433523,23165645,26788936,24375913,23763483"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113699"	"2023-09-11"
"GENCC_000112-HGNC_19104-OMIM_606966-HP_0000007-GENCC_100001"	"HGNC:19104"	"NPHP4"	"MONDO:0011752"	"nephronophthisis 4"	"OMIM:606966"	"OMIM:606966"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19104"	"NPHP4"	"OMIM:606966"	"NEPHRONOPHTHISIS TYPE 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12244321"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113701"	"2023-09-11"
"GENCC_000112-HGNC_3497-OMIM_193530-HP_0000007-GENCC_100001"	"HGNC:3497"	"EVC"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"OMIM:193530"	"OMIM:193530"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3497"	"EVC"	"OMIM:193530"	"ACROFACIAL DYSOSTOSIS WEYERS TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12468274,21815252,14217223,7628126,10700184,7218275,12571802"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113703"	"2023-09-11"
"GENCC_000112-HGNC_10585-OMIM_607208-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0100079"	"developmental and epileptic encephalopathy, 6"	"OMIM:607208"	"OMIM:607208"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10585"	"SCN1A"	"OMIM:607208"	"SCN1A-RELATED SEIZURE DISORDERS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11359211,21555645,18680191,17000989,16505326,12566275,21753172"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113704"	"2023-09-11"
"GENCC_000112-HGNC_2217-OMIM_614135-HP_0000006-GENCC_100001"	"HGNC:2217"	"COL9A1"	"MONDO:0013591"	"epiphyseal dysplasia, multiple, 6"	"OMIM:614135"	"OMIM:614135"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2217"	"COL9A1"	"OMIM:614135"	"MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11565064"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113705"	"2023-09-11"
"GENCC_000112-HGNC_20761-OMIM_270700-HP_0000007-GENCC_100001"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"OMIM:270700"	"OMIM:270700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20761"	"ZFYVE26"	"OMIM:270700"	"SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19805727,17661097,18098276,11342696"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113706"	"2023-09-11"
"GENCC_000112-HGNC_14677-OMIM_615828-HP_0000006-GENCC_100001"	"HGNC:14677"	"DEAF1"	"MONDO:0014357"	"intellectual disability, autosomal dominant 24"	"OMIM:615828"	"OMIM:615828"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14677"	"DEAF1"	"OMIM:615828"	"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24726472,21076407"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113708"	"2023-09-11"
"GENCC_000112-HGNC_29250-OMIM_613610-HP_0000007-GENCC_100001"	"HGNC:29250"	"WDR35"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"OMIM:613610"	"OMIM:613610"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29250"	"WDR35"	"OMIM:613610"	"CRANIOECTODERMAL DYSPLASIA 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20817137,35875935,21473986"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113709"	"2023-09-11"
"GENCC_000112-HGNC_18518-OMIM_610333-HP_0000007-GENCC_100001"	"HGNC:18518"	"RNASEH2A"	"MONDO:0012472"	"Aicardi-Goutieres syndrome 4"	"OMIM:610333"	"OMIM:610333"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18518"	"RNASEH2A"	"OMIM:610333"	"AICARDI-GOUTIERES SYNDROME 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15870678"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113712"	"2023-09-11"
"GENCC_000112-HGNC_574-OMIM_612936-HP_0000007-GENCC_100002"	"HGNC:574"	"AP4M1"	"MONDO:0013048"	"hereditary spastic paraplegia 50"	"OMIM:612936"	"OMIM:612936"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:574"	"AP4M1"	"OMIM:612936"	"CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"19559397"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113714"	"2023-09-11"
"GENCC_000112-HGNC_29521-OMIM_218340-HP_0000007-GENCC_100002"	"HGNC:29521"	"C12orf57"	"MONDO:0009033"	"temtamy syndrome"	"OMIM:218340"	"OMIM:218340"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29521"	"C12orf57"	"OMIM:218340"	"TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23453666,24798461"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113716"	"2023-09-11"
"GENCC_000112-HGNC_11103-OMIM_609322-HP_0000006-GENCC_100001"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"OMIM:609322"	"OMIM:609322"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11103"	"SMARCB1"	"OMIM:609322"	"RHABDOID PREDISPOSITION SYNDROME 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9671307,10521299,10739763"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113717"	"2023-09-11"
"GENCC_000112-HGNC_8620-OMIM_148190-HP_0000006-GENCC_100001"	"HGNC:8620"	"PAX6"	"MONDO:0007848"	"autosomal dominant keratitis"	"OMIM:148190"	"OMIM:148190"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8620"	"PAX6"	"OMIM:148190"	"KERATITIS HEREDITARY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:24"	""	""	"7668281"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"277"	"2020-11-25"
"GENCC_000112-HGNC_2896-OMIM_245348-HP_0000007-GENCC_100001"	"HGNC:2896"	"DLAT"	"MONDO:0009502"	"pyruvate dehydrogenase E2 deficiency"	"OMIM:245348"	"OMIM:245348"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2896"	"DLAT"	"OMIM:245348"	"PYRUVATE DEHYDROGENASE E2 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16049940"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113719"	"2023-09-11"
"GENCC_000112-HGNC_29242-OMIM_249420-HP_0000007-GENCC_100001"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"OMIM:249420"	"OMIM:249420"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29242"	"SH3PXD2B"	"OMIM:249420"	"FRANK-TER HAAR SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20137777,15523657,7158646"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113720"	"2023-09-11"
"GENCC_000112-HGNC_3754-OMIM_309350-HP_0001423-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010650"	"Melnick-Needles syndrome"	"OMIM:309350"	"OMIM:309350"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:309350"	"MELNICK-NEEDLES SYNDROME"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:24"	""	""	"12612583"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"280"	"2020-11-25"
"GENCC_000112-HGNC_7975-OMIM_615722-HP_0000006-GENCC_100001"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"OMIM:615722"	"OMIM:615722"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7975"	"NR2F1"	"OMIM:615722"	"BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24462372,26986877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113722"	"2023-09-11"
"GENCC_000112-HGNC_30668-OMIM_300643-HP_0001419-GENCC_100004"	"HGNC:30668"	"SRPX2"	"MONDO:0010388"	"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"	"OMIM:300643"	"OMIM:300643"	"GENCC:100004"	"Limited"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:30668"	"SRPX2"	"OMIM:300643"	"ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:24"	""	""	"16497722"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"282"	"2020-11-25"
"GENCC_000112-HGNC_17582-OMIM_603736-HP_0000006-GENCC_100001"	"HGNC:17582"	"KAT6B"	"MONDO:0011365"	"blepharophimosis - intellectual disability syndrome, SBBYS type"	"OMIM:603736"	"OMIM:603736"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17582"	"KAT6B"	"OMIM:603736"	"SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25424711,23436491,24458743,29226580,30353918,22077973,27696664,30569622,28426343,28232779,28758091,26370006,26334766"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113723"	"2023-09-11"
"GENCC_000112-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100001"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"OMIM:175700"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"GREIG CEPHALOPOLYSYNDACTYLY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113724"	"2023-09-11"
"GENCC_000112-HGNC_8996-OMIM_611369-HP_0000007-GENCC_100004"	"HGNC:8996"	"PIP5K1C"	"MONDO:0012656"	"lethal congenital contracture syndrome 3"	"OMIM:611369"	"OMIM:611369"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8996"	"PIP5K1C"	"OMIM:611369"	"LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113726"	"2023-09-11"
"GENCC_000112-HGNC_8582-OMIM_261600-HP_0000007-GENCC_100001"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"OMIM:261600"	"OMIM:261600"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8582"	"PAH"	"OMIM:261600"	"NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1301201,1769645,1301947,1671881,1682235,8088845,1312992,2014802,2309142,1363838,2564729,2035532,1301193,1360590,9950317,11935335,2884570,1709636,8364546,2044609,1671810,2840952,3008810,8097261,8829656,2573272,1363837,1975559,2574002,1358789,1997387,7981714,1301200,2071149,2606484,2816939,1679030,8098245,1349576"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113727"	"2023-09-11"
"GENCC_000112-HGNC_4263-OMIM_262500-HP_0000007-GENCC_100001"	"HGNC:4263"	"GHR"	"MONDO:0009877"	"Laron syndrome"	"OMIM:262500"	"OMIM:262500"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4263"	"GHR"	"OMIM:262500"	"PITUITARY DWARFISM II"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9467570,9851797,2813379,9360529,2233903,9661642,17405847,11468686,8488849,15536163,2779634,12679461,15001620,8626815"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113728"	"2023-09-11"
"GENCC_000112-HGNC_19693-OMIM_616276-HP_0000007-GENCC_100002"	"HGNC:19693"	"COQ4"	"MONDO:0014562"	"neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	"OMIM:616276"	"OMIM:616276"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19693"	"COQ4"	"OMIM:616276"	"COENZYME Q10 DEFICIENCY, PRIMARY, 7"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25658047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113729"	"2023-09-11"
"GENCC_000112-HGNC_8623-OMIM_604625-HP_0000006-GENCC_100001"	"HGNC:8623"	"PAX9"	"MONDO:0011477"	"tooth agenesis, selective, 3"	"OMIM:604625"	"OMIM:604625"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8623"	"PAX9"	"OMIM:604625"	"TOOTH AGENESIS, SELECTIVE, 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113730"	"2023-09-11"
"GENCC_000112-HGNC_3702-OMIM_300696-HP_0001419-GENCC_100001"	"HGNC:3702"	"FHL1"	"MONDO:0010401"	"X-linked myopathy with postural muscle atrophy"	"OMIM:300696"	"OMIM:300696"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3702"	"FHL1"	"OMIM:300696"	"EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:25"	""	""	"19687455, 18179888, 19716112"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"291"	"2020-11-25"
"GENCC_000112-HGNC_13733-OMIM_601386-HP_0000007-GENCC_100001"	"HGNC:13733"	"CDH23"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"OMIM:601386"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13733"	"CDH23"	"OMIM:601386"	"DEAFNESS AUTOSOMAL RECESSIVE TYPE 12"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11090341,17850630,15829536,12075507"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113732"	"2023-09-11"
"GENCC_000112-HGNC_7146-OMIM_613216-HP_0000007-GENCC_100001"	"HGNC:7146"	"TRPM1"	"MONDO:0013183"	"congenital stationary night blindness 1C"	"OMIM:613216"	"OMIM:613216"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7146"	"TRPM1"	"OMIM:613216"	"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19896113,19878917,19896109,20300565"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113733"	"2023-09-11"
"GENCC_000112-HGNC_11425-OMIM_308100-HP_0001419-GENCC_100001"	"HGNC:11425"	"STS"	"MONDO:0010622"	"recessive X-linked ichthyosis"	"OMIM:308100"	"OMIM:308100"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11425"	"STS"	"OMIM:308100"	"ICHTHYOSIS, X-LINKED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:25"	""	""	"3032454, 9252398, 1539590"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"296"	"2020-11-25"
"GENCC_000112-HGNC_438-OMIM_241500-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"infantile hypophosphatasia"	"OMIM:241500"	"OMIM:241500"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:438"	"ALPL"	"OMIM:241500"	"HYPOPHOSPHATASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"3174660"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113737"	"2023-09-11"
"GENCC_000112-HGNC_735-OMIM_228000-HP_0000007-GENCC_100001"	"HGNC:735"	"ASAH1"	"MONDO:0009218"	"Farber lipogranulomatosis"	"OMIM:228000"	"OMIM:228000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:735"	"ASAH1"	"OMIM:228000"	"FARBER LIPOGRANULOMATOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16951918,8955159,11241842,10610716"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113739"	"2023-09-11"
"GENCC_000112-HGNC_18871-OMIM_251100-HP_0000007-GENCC_100001"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"OMIM:251100"	"OMIM:251100"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18871"	"MMAA"	"OMIM:251100"	"METHYLMALONIC ACIDURIA TYPE CBLA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12438653"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113740"	"2023-09-11"
"GENCC_000112-HGNC_3755-OMIM_150250-HP_0000006-GENCC_100001"	"HGNC:3755"	"FLNB"	"MONDO:0007875"	"Larsen syndrome"	"OMIM:150250"	"OMIM:150250"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3755"	"FLNB"	"OMIM:150250"	"AUTOSOMAL DOMINANT LARSEN SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14991055,16801345"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113741"	"2023-09-11"
"GENCC_000112-HGNC_17893-OMIM_616579-HP_0000007-GENCC_100001"	"HGNC:17893"	"PGAP2"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17893"	"PGAP2"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113742"	"2023-09-11"
"GENCC_000112-HGNC_30650-OMIM_601186-HP_0000007-GENCC_100001"	"HGNC:30650"	"STRA6"	"MONDO:0011010"	"Matthew-Wood syndrome"	"OMIM:601186"	"OMIM:601186"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30650"	"STRA6"	"OMIM:601186"	"MICROPHTHALMIA SYNDROMIC TYPE 9"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21901792,11857549,17273977,19839040,17503335"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113743"	"2023-09-11"
"GENCC_000112-HGNC_13128-OMIM_300803-HP_0001419-GENCC_100001"	"HGNC:13128"	"ZNF711"	"MONDO:0010430"	"intellectual disability, X-linked 97"	"OMIM:300803"	"OMIM:300803"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:13128"	"ZNF711"	"OMIM:300803"	"MENTAL RETARDATION X-LINKED ZNF711-RELATED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:25"	""	""	"19377476"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"304"	"2020-11-25"
"GENCC_000112-HGNC_9477-OMIM_249500-HP_0000007-GENCC_100001"	"HGNC:9477"	"PRSS12"	"MONDO:0009580"	"intellectual disability, autosomal recessive 1"	"OMIM:249500"	"OMIM:249500"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9477"	"PRSS12"	"OMIM:249500"	"INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12459588"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113745"	"2023-09-11"
"GENCC_000112-HGNC_17997-OMIM_613153-HP_0000007-GENCC_100001"	"HGNC:17997"	"FKRP"	"MONDO:0013157"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"	"OMIM:613153"	"OMIM:613153"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17997"	"FKRP"	"OMIM:613153"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11071142,11592034,14523375,11053680,12707439,14652796,14647208,17336067,12654965,11741828,15121789"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113746"	"2023-09-11"
"GENCC_000112-HGNC_4837-OMIM_309801-HP_0001423-GENCC_100001"	"HGNC:4837"	"HCCS"	"MONDO:0024552"	"linear skin defects with multiple congenital anomalies 1"	"OMIM:309801"	"OMIM:309801"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:4837"	"HCCS"	"OMIM:309801"	"MICROPHTHALMIA SYNDROMIC TYPE 7"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:26"	""	""	"17033964"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"307"	"2020-11-25"
"GENCC_000112-HGNC_16950-OMIM_614261-HP_0000007-GENCC_100001"	"HGNC:16950"	"STAMBP"	"MONDO:0013659"	"microcephaly-capillary malformation syndrome"	"OMIM:614261"	"OMIM:614261"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16950"	"STAMBP"	"OMIM:614261"	"MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23542699"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113748"	"2023-09-11"
"GENCC_000112-HGNC_951-OMIM_613330-HP_0000007-GENCC_100001"	"HGNC:951"	"NKX3-2"	"MONDO:0013228"	"spondylo-megaepiphyseal-metaphyseal dysplasia"	"OMIM:613330"	"OMIM:613330"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:951"	"NKX3-2"	"OMIM:613330"	"SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113749"	"2023-09-11"
"GENCC_000112-HGNC_25994-OMIM_611091-HP_0000007-GENCC_100002"	"HGNC:25994"	"NSUN2"	"MONDO:0012613"	"intellectual disability, autosomal recessive 5"	"OMIM:611091"	"OMIM:611091"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25994"	"NSUN2"	"OMIM:611091"	"AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22577224,22541559,22541562,21063731"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113750"	"2023-09-11"
"GENCC_000112-HGNC_11773-OMIM_615582-HP_0000006-GENCC_100001"	"HGNC:11773"	"TGFBR2"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"OMIM:615582"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11773"	"TGFBR2"	"OMIM:615582"	"LOEYS-DIETZ SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-09-01 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000112435"	"2023-09-11"
"GENCC_000112-HGNC_13890-OMIM_613385-HP_0000007-GENCC_100002"	"HGNC:13890"	"ITCH"	"MONDO:0013245"	"syndromic multisystem autoimmune disease due to ITCH deficiency"	"OMIM:613385"	"OMIM:613385"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13890"	"ITCH"	"OMIM:613385"	"AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"20170897"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113752"	"2023-09-11"
"GENCC_000112-HGNC_3007-OMIM_612937-HP_0000007-GENCC_100002"	"HGNC:3007"	"DPM3"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"OMIM:612937"	"OMIM:612937"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3007"	"DPM3"	"OMIM:612937"	"CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"35932216,19576565"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113753"	"2023-09-11"
"GENCC_000112-HGNC_2719-OMIM_608643-HP_0000007-GENCC_100001"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"OMIM:608643"	"OMIM:608643"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2719"	"DDC"	"OMIM:608643"	"AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20505134"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113754"	"2023-09-11"
"GENCC_000112-HGNC_16287-OMIM_605711-HP_0000007-GENCC_100001"	"HGNC:16287"	"NFU1"	"MONDO:0011582"	"multiple mitochondrial dysfunctions syndrome 1"	"OMIM:605711"	"OMIM:605711"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16287"	"NFU1"	"OMIM:605711"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22077971,11156534"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113755"	"2023-09-11"
"GENCC_000112-HGNC_18423-OMIM_604364-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"OMIM:604364"	"OMIM:604364"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18423"	"DEPDC5"	"OMIM:604364"	"FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15329069,14510823,10825362,10577924,23542701,9851433"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113756"	"2023-09-11"
"GENCC_000112-HGNC_11509-OMIM_616579-HP_0000006-GENCC_100002"	"HGNC:11509"	"SYT1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11509"	"SYT1"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"30107533,25705886"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113757"	"2023-09-11"
"GENCC_000112-HGNC_8975-OMIM_612918-HP_0001442-GENCC_100001"	"HGNC:8975"	"PIK3CA"	"MONDO:0013038"	"CLOVES syndrome"	"OMIM:612918"	"OMIM:612918"	"GENCC:100001"	"Definitive"	"HP:0001442"	"Somatic mosaicism"	"GENCC:000112"	"G2P"	"HGNC:8975"	"PIK3CA"	"OMIM:612918"	"CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI"	"HP:0001442"	"Somatic Somatic mosaicismism"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:26"	""	""	"22658544"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"319"	"2020-11-25"
"GENCC_000112-HGNC_21474-OMIM_213300-HP_0000007-GENCC_100001"	"HGNC:21474"	"INPP5E"	"MONDO:0008944"	"Joubert syndrome 1"	"OMIM:213300"	"OMIM:213300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21474"	"INPP5E"	"OMIM:213300"	"JOUBERT SYNDROME TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19668216"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113759"	"2023-09-11"
"GENCC_000112-HGNC_2867-OMIM_263750-HP_0000007-GENCC_100001"	"HGNC:2867"	"DHODH"	"MONDO:0009903"	"postaxial acrofacial dysostosis"	"OMIM:263750"	"OMIM:263750"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2867"	"DHODH"	"OMIM:263750"	"POSTAXIAL ACROFACIAL DYSOSTOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19915526"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113760"	"2023-09-11"
"GENCC_000112-HGNC_9462-OMIM_311070-HP_0001419-GENCC_100001"	"HGNC:9462"	"PRPS1"	"MONDO:0010699"	"Charcot-Marie-Tooth disease X-linked recessive 5"	"OMIM:311070"	"OMIM:311070"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:9462"	"PRPS1"	"OMIM:311070"	"CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:26"	""	""	"17701900"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"322"	"2020-11-25"
"GENCC_000112-HGNC_2932-OMIM_241520-HP_0000007-GENCC_100001"	"HGNC:2932"	"DMP1"	"MONDO:0009430"	"hypophosphatemic rickets, autosomal recessive, 1"	"OMIM:241520"	"OMIM:241520"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2932"	"DMP1"	"OMIM:241520"	"HYPOPHOSPHATEMIC RICKETS, AR"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17033621,17033625"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113762"	"2023-09-11"
"GENCC_000112-HGNC_18662-OMIM_611038-HP_0000007-GENCC_100001"	"HGNC:18662"	"RAX"	"MONDO:0012604"	"isolated microphthalmia 3"	"OMIM:611038"	"OMIM:611038"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18662"	"RAX"	"OMIM:611038"	"MICROPHTHALMIA ISOLATED TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18783408,14662654"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113763"	"2023-09-11"
"GENCC_000112-HGNC_14409-OMIM_607196-HP_0000007-GENCC_100002"	"HGNC:14409"	"SLC25A19"	"MONDO:0011790"	"Amish lethal microcephaly"	"OMIM:607196"	"OMIM:607196"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14409"	"SLC25A19"	"OMIM:607196"	"AMISH LETHAL MICROCEPHALY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"12185364"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113764"	"2023-09-11"
"GENCC_000112-HGNC_28596-OMIM_615181-HP_0000007-GENCC_100002"	"HGNC:28596"	"B3GALNT2"	"MONDO:0014071"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	"OMIM:615181"	"OMIM:615181"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28596"	"B3GALNT2"	"OMIM:615181"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"29791932,23453667"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113765"	"2023-09-11"
"GENCC_000112-HGNC_29216-OMIM_100300-HP_0000006-GENCC_100002"	"HGNC:29216"	"ARHGAP31"	"MONDO:0024506"	"Adams-Oliver syndrome 1"	"OMIM:100300"	"OMIM:100300"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29216"	"ARHGAP31"	"OMIM:100300"	"ADAMS-OLIVER SYNDROME 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"474617,16451141"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113766"	"2023-09-11"
"GENCC_000112-HGNC_970-OMIM_615983-HP_0000007-GENCC_100001"	"HGNC:970"	"BBS5"	"MONDO:0014434"	"Bardet-Biedl syndrome 5"	"OMIM:615983"	"OMIM:615983"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:970"	"BBS5"	"OMIM:615983"	"BARDET-BIEDL SYNDROME TYPE 5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15137946,18203199"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113767"	"2023-09-11"
"GENCC_000112-HGNC_7208-OMIM_615219-HP_0000007-GENCC_100004"	"HGNC:7208"	"MPDZ"	"MONDO:0014085"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"OMIM:615219"	"OMIM:615219"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7208"	"MPDZ"	"OMIM:615219"	"HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23240096"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113769"	"2023-09-11"
"GENCC_000112-HGNC_23537-OMIM_204750-HP_0000007-GENCC_100002"	"HGNC:23537"	"DHTKD1"	"MONDO:0008774"	"2-aminoadipic 2-oxoadipic aciduria"	"OMIM:204750"	"OMIM:204750"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23537"	"DHTKD1"	"OMIM:204750"	"2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23141293"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113770"	"2023-09-11"
"GENCC_000112-HGNC_47-OMIM_614497-HP_0000006-GENCC_100004"	"HGNC:47"	"ABCB6"	"MONDO:0013783"	"microphthalmia, isolated, with coloboma 7"	"OMIM:614497"	"OMIM:614497"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:47"	"ABCB6"	"OMIM:614497"	"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"22226084"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113771"	"2023-09-11"
"GENCC_000112-HGNC_4136-OMIM_612736-HP_0000007-GENCC_100001"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"OMIM:612736"	"OMIM:612736"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4136"	"GAMT"	"OMIM:612736"	"GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8651275,15651030,17101918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113774"	"2023-09-11"
"GENCC_000112-HGNC_13444-OMIM_208050-HP_0000007-GENCC_100001"	"HGNC:13444"	"SLC2A10"	"MONDO:0008818"	"arterial tortuosity syndrome"	"OMIM:208050"	"OMIM:208050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13444"	"SLC2A10"	"OMIM:208050"	"ARTERIAL TORTUOSITY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16550171,14569121,17935213"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113775"	"2023-09-11"
"GENCC_000112-HGNC_3754-OMIM_300048-HP_0001419-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010232"	"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"	"OMIM:300048"	"OMIM:300048"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:300048"	"X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:27"	""	""	"8644737, 23037936"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"337"	"2020-11-25"
"GENCC_000112-HGNC_9083-OMIM_612394-HP_0000007-GENCC_100004"	"HGNC:9083"	"PLOD3"	"MONDO:0012892"	"bone fragility with contractures, arterial rupture, and deafness"	"OMIM:612394"	"OMIM:612394"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9083"	"PLOD3"	"OMIM:612394"	"LYSYL HYDROXYLASE 3 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"18834968"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113778"	"2023-09-11"
"GENCC_000112-HGNC_18040-OMIM_135900-HP_0000006-GENCC_100001"	"HGNC:18040"	"ARID1B"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"OMIM:135900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18040"	"ARID1B"	"OMIM:135900"	"COFFIN SIRIS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"30349098,22426309,22405089,22426308"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113779"	"2023-09-11"
"GENCC_000112-HGNC_9066-OMIM_614878-HP_0000006-GENCC_100004"	"HGNC:9066"	"PLCG2"	"MONDO:0013944"	"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"OMIM:614878"	"OMIM:614878"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9066"	"PLCG2"	"OMIM:614878"	"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23000145"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113781"	"2023-09-11"
"GENCC_000112-HGNC_12718-OMIM_607596-HP_0000007-GENCC_100002"	"HGNC:12718"	"VRK1"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"OMIM:607596"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12718"	"VRK1"	"OMIM:607596"	"PONTOCEREBELLAR HYPOPLASIA TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21937992,19646678"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113783"	"2023-09-11"
"GENCC_000112-HGNC_3689-OMIM_101200-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"OMIM:101200"	"OMIM:101200"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3689"	"FGFR2"	"OMIM:101200"	"APERT SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7719344,9002682,9973282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113784"	"2023-09-11"
"GENCC_000112-HGNC_12799-OMIM_614322-HP_0000007-GENCC_100002"	"HGNC:12799"	"WWOX"	"MONDO:0013687"	"autosomal recessive spinocerebellar ataxia 12"	"OMIM:614322"	"OMIM:614322"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12799"	"WWOX"	"OMIM:614322"	"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24369382"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113785"	"2023-09-11"
"GENCC_000112-HGNC_321-OMIM_232400-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"OMIM:232400"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:321"	"AGL"	"OMIM:232400"	"GLYCOGEN STORAGE DISEASE TYPE III"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19834502,10925384,8755644,8990006,8702417,9490286,11378828,9412782,10571954,10655153"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113786"	"2023-09-11"
"GENCC_000112-HGNC_12340-OMIM_190350-HP_0000006-GENCC_100001"	"HGNC:12340"	"TRPS1"	"MONDO:0008596"	"trichorhinophalangeal syndrome type I"	"OMIM:190350"	"OMIM:190350"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12340"	"TRPS1"	"OMIM:190350"	"TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10615131,14560312,11359471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113787"	"2023-09-11"
"GENCC_000112-HGNC_30372-OMIM_615348-HP_0000007-GENCC_100001"	"HGNC:30372"	"KLHL40"	"MONDO:0014138"	"nemaline myopathy 8"	"OMIM:615348"	"OMIM:615348"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30372"	"KLHL40"	"OMIM:615348"	"NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23746549"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113788"	"2023-09-11"
"GENCC_000112-HGNC_6694-OMIM_616579-HP_0000006-GENCC_100004"	"HGNC:6694"	"LRP2"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6694"	"LRP2"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"23033978"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113789"	"2023-09-11"
"GENCC_000112-HGNC_7045-OMIM_212066-HP_0000007-GENCC_100001"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"OMIM:212066"	"OMIM:212066"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7045"	"MGAT2"	"OMIM:212066"	"CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8808595,20684000,11228641"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113790"	"2023-09-11"
"GENCC_000112-HGNC_11191-OMIM_615866-HP_0000006-GENCC_100001"	"HGNC:11191"	"SOX11"	"MONDO:0014376"	"intellectual disability, autosomal dominant 27"	"OMIM:615866"	"OMIM:615866"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11191"	"SOX11"	"OMIM:615866"	"SOX11-related neurodevelopmental disorder"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"26543203,24886874,35341651"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113791"	"2023-09-11"
"GENCC_000112-HGNC_9957-OMIM_257320-HP_0000007-GENCC_100001"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"OMIM:257320"	"OMIM:257320"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9957"	"RELN"	"OMIM:257320"	"LISSENCEPHALY 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113793"	"2023-09-11"
"GENCC_000112-HGNC_4135-OMIM_230400-HP_0000007-GENCC_100001"	"HGNC:4135"	"GALT"	"MONDO:0009258"	"classic galactosemia"	"OMIM:230400"	"OMIM:230400"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4135"	"GALT"	"OMIM:230400"	"GALACTOSEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1610789,10439960,9012409,2233247,9222760,2011574,8869397,1897530"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113794"	"2023-09-11"
"GENCC_000112-HGNC_12530-OMIM_218800-HP_0000007-GENCC_100001"	"HGNC:12530"	"UGT1A1"	"MONDO:0021020"	"Crigler-Najjar syndrome type 1"	"OMIM:218800"	"OMIM:218800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12530"	"UGT1A1"	"OMIM:218800"	"CRIGLER-NAJJAR SYNDROME, TYPE I"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11968090,9497253,9039987,9295054"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113795"	"2023-09-11"
"GENCC_000112-HGNC_1968-OMIM_214500-HP_0000007-GENCC_100001"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"OMIM:214500"	"OMIM:214500"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1968"	"LYST"	"OMIM:214500"	"CHEDIAK-HIGASHI SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9215680,11857544,8751864,10482950,8751863,8896560,9215679"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113796"	"2023-09-11"
"GENCC_000112-HGNC_14881-OMIM_235730-HP_0000006-GENCC_100001"	"HGNC:14881"	"ZEB2"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"OMIM:235730"	"OMIM:235730"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14881"	"ZEB2"	"OMIM:235730"	"MOWAT-WILSON SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9719364,16532472,16688751,11279515,11891681,12920073,12451214,11592033,16088920,11595972"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113797"	"2023-09-11"
"GENCC_000112-HGNC_20087-OMIM_613464-HP_0000007-GENCC_100001"	"HGNC:20087"	"TTC8"	"MONDO:0013274"	"retinitis pigmentosa 51"	"OMIM:613464"	"OMIM:613464"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20087"	"TTC8"	"OMIM:613464"	"RETINITIS PIGMENTOSA TYPE 51"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20451172"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113798"	"2023-09-11"
"GENCC_000112-HGNC_9388-OMIM_101800-HP_0000006-GENCC_100001"	"HGNC:9388"	"PRKAR1A"	"MONDO:0007044"	"Acrodysostosis 1 with or without hormone resistance"	"OMIM:101800"	"OMIM:101800"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9388"	"PRKAR1A"	"OMIM:101800"	"ACRODYSOSTOSIS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21651393,22464250,22464252"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113799"	"2023-09-11"
"GENCC_000112-HGNC_29669-OMIM_614099-HP_0000007-GENCC_100001"	"HGNC:29669"	"IFT43"	"MONDO:0013573"	"cranioectodermal dysplasia 3"	"OMIM:614099"	"OMIM:614099"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29669"	"IFT43"	"OMIM:614099"	"CRANIOECTODERMAL DYSPLASIA TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21378380"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113800"	"2023-09-11"
"GENCC_000112-HGNC_20105-OMIM_225790-HP_0000007-GENCC_100001"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"OMIM:225790"	"OMIM:225790"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20105"	"FLVCR2"	"OMIM:225790"	"PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20206334,25677735,19635601,20518025"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113801"	"2023-09-11"
"GENCC_000112-HGNC_20582-OMIM_615030-HP_0000007-GENCC_100001"	"HGNC:20582"	"CYP2U1"	"MONDO:0014015"	"hereditary spastic paraplegia 56"	"OMIM:615030"	"OMIM:615030"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20582"	"CYP2U1"	"OMIM:615030"	"HEREDITARY SPASTIC PARAPLEGIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23176821"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113802"	"2023-09-11"
"GENCC_000112-HGNC_21014-OMIM_230740-HP_0000007-GENCC_100001"	"HGNC:21014"	"ANTXR1"	"MONDO:0009263"	"GAPO syndrome"	"OMIM:230740"	"OMIM:230740"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21014"	"ANTXR1"	"OMIM:230740"	"GAPO SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23602711"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113803"	"2023-09-11"
"GENCC_000112-HGNC_8108-OMIM_300555-HP_0001419-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010359"	"Dent disease type 2"	"OMIM:300555"	"OMIM:300555"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8108"	"OCRL"	"OMIM:300555"	"DENT DISEASE TYPE 2"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:28"	""	""	"15627218"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"365"	"2020-11-25"
"GENCC_000112-HGNC_13394-OMIM_600995-HP_0000007-GENCC_100001"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"OMIM:600995"	"OMIM:600995"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13394"	"NPHS2"	"OMIM:600995"	"NEPHROTIC SYNDROME, TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8606597,10742096,8589695,12464671"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113805"	"2023-09-11"
"GENCC_000112-HGNC_24576-OMIM_613804-HP_0000007-GENCC_100001"	"HGNC:24576"	"CDT1"	"MONDO:0013431"	"Meier-Gorlin syndrome 4"	"OMIM:613804"	"OMIM:613804"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24576"	"CDT1"	"OMIM:613804"	"MEIER-GORLIN SYNDROME 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11992493,21358632"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113807"	"2023-09-11"
"GENCC_000112-HGNC_12403-OMIM_611705-HP_0000007-GENCC_100001"	"HGNC:12403"	"TTN"	"MONDO:0012714"	"early-onset myopathy with fatal cardiomyopathy"	"OMIM:611705"	"OMIM:611705"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12403"	"TTN"	"OMIM:611705"	"Autosomal recessive titinopathy with arthrogryposis and/or myopathy "	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"35605965,32778822,29575618,28040389,17444505,36495114,31660661,29691892"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113808"	"2023-09-11"
"GENCC_000112-HGNC_3600-OMIM_608180-HP_0000007-GENCC_100004"	"HGNC:3600"	"FBLN1"	"MONDO:0011984"	"synpolydactyly type 2"	"OMIM:608180"	"OMIM:608180"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3600"	"FBLN1"	"OMIM:608180"	"SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113809"	"2023-09-11"
"GENCC_000112-HGNC_6831-OMIM_248510-HP_0000007-GENCC_100001"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"OMIM:248510"	"OMIM:248510"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6831"	"MANBA"	"OMIM:248510"	"LYSOSOMAL BETA-MANNOSIDOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1623631,16401745,2079835,12890191,1499588,3762648"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113812"	"2023-09-11"
"GENCC_000112-HGNC_9587-OMIM_151050-HP_0000006-GENCC_100001"	"HGNC:9587"	"PTDSS1"	"MONDO:0007892"	"Lenz-Majewski hyperostotic dwarfism"	"OMIM:151050"	"OMIM:151050"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9587"	"PTDSS1"	"OMIM:151050"	"LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24241535"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113813"	"2023-09-11"
"GENCC_000112-HGNC_16175-OMIM_206800-HP_0000007-GENCC_100001"	"HGNC:16175"	"RSPO4"	"MONDO:0008798"	"nonsyndromic congenital nail disorder 4"	"OMIM:206800"	"OMIM:206800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16175"	"RSPO4"	"OMIM:206800"	"ANONYCHIA CONGENITA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17186469,17914448,18070203,4702713,17041604"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113814"	"2023-09-11"
"GENCC_000112-HGNC_1421-OMIM_212138-HP_0000007-GENCC_100001"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"OMIM:212138"	"OMIM:212138"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1421"	"SLC25A20"	"OMIM:212138"	"CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12859414,10384384,10697964,9686371,9399886"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113815"	"2023-09-11"
"GENCC_000112-HGNC_12775-OMIM_225300-HP_0000007-GENCC_100001"	"HGNC:12775"	"WNT10B"	"MONDO:0009157"	"split hand-foot malformation 6"	"OMIM:225300"	"OMIM:225300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12775"	"WNT10B"	"OMIM:225300"	"SPLIT-HAND/FOOT MALFORMATION TYPE 6"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12072797,20635353"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113816"	"2023-09-11"
"GENCC_000112-HGNC_12269-OMIM_225750-HP_0000007-GENCC_100001"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"OMIM:225750"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16845398,17357087"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113818"	"2023-09-11"
"GENCC_000112-HGNC_9811-OMIM_614701-HP_0000006-GENCC_100001"	"HGNC:9811"	"RAD21"	"MONDO:0013864"	"Cornelia de Lange syndrome 4"	"OMIM:614701"	"OMIM:614701"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9811"	"RAD21"	"OMIM:614701"	"COHESINOPATHY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"30125677,24378232,30716475,27882533,32193685,22633399"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113820"	"2023-09-11"
"GENCC_000112-HGNC_5147-OMIM_140350-HP_0000006-GENCC_100002"	"HGNC:5147"	"HPD"	"MONDO:0007700"	"hawkinsinuria"	"OMIM:140350"	"OMIM:140350"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5147"	"HPD"	"OMIM:140350"	"HAWKINSINURIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113822"	"2023-09-11"
"GENCC_000112-HGNC_4416-OMIM_222765-HP_0000007-GENCC_100001"	"HGNC:4416"	"GNPAT"	"MONDO:0009112"	"rhizomelic chondrodysplasia punctata type 2"	"OMIM:222765"	"OMIM:222765"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4416"	"GNPAT"	"OMIM:222765"	"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9843043,9536089,1405476,21990100"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113823"	"2023-09-11"
"GENCC_000112-HGNC_4879-OMIM_268800-HP_0000007-GENCC_100001"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"OMIM:268800"	"OMIM:268800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4879"	"HEXB"	"OMIM:268800"	"GM2-GANGLIOSIDOSIS TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18758829,7633435,3014997,10724,9888387,2973515,1531140,8045559,571983,2921040"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113826"	"2023-09-11"
"GENCC_000112-HGNC_3519-OMIM_166780-HP_0000006-GENCC_100004"	"HGNC:3519"	"EYA1"	"MONDO:0024532"	"otofaciocervical syndrome 1"	"OMIM:166780"	"OMIM:166780"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3519"	"EYA1"	"OMIM:166780"	"OTOFACIOCERVICAL SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:29"	""	""	"16441263"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"388"	"2020-11-25"
"GENCC_000112-HGNC_22962-OMIM_616579-HP_0000006-GENCC_100002"	"HGNC:22962"	"MED13L"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:22962"	"MED13L"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25758992,28645799,25712080,29511999,25137640,29159987,24781760,29959045,23403903,28371282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113827"	"2023-09-11"
"GENCC_000112-HGNC_29659-OMIM_608681-HP_0000007-GENCC_100001"	"HGNC:29659"	"MESP2"	"MONDO:0012097"	"spondylocostal dysostosis 2, autosomal recessive"	"OMIM:608681"	"OMIM:608681"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29659"	"MESP2"	"OMIM:608681"	"SPONDYLOCOSTAL DYSOSTOSIS TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15122512,18485326"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113828"	"2023-09-11"
"GENCC_000112-HGNC_8646-OMIM_264070-HP_0000007-GENCC_100001"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"OMIM:264070"	"OMIM:264070"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8646"	"PCBD1"	"OMIM:264070"	"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9585615,8352282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113830"	"2023-09-11"
"GENCC_000112-HGNC_11724-OMIM_600195-HP_0000006-GENCC_100001"	"HGNC:11724"	"TEK"	"MONDO:0010842"	"multiple cutaneous and mucosal venous malformations"	"OMIM:600195"	"OMIM:600195"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11724"	"TEK"	"OMIM:600195"	"VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10369874,19888299,7833915"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113831"	"2023-09-11"
"GENCC_000112-HGNC_19309-OMIM_612900-HP_0012275-GENCC_100004"	"HGNC:19309"	"KANK1"	"MONDO:0013033"	"cerebral palsy, spastic quadriplegic, 2"	"OMIM:612900"	"OMIM:612900"	"GENCC:100004"	"Limited"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting HP:0012275"	"GENCC:000112"	"G2P"	"HGNC:19309"	"KANK1"	"OMIM:612900"	"CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:30"	""	""	"16301218"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"396"	"2020-11-25"
"GENCC_000112-HGNC_21316-OMIM_148050-HP_0000006-GENCC_100001"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"OMIM:148050"	"OMIM:148050"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21316"	"ANKRD11"	"OMIM:148050"	"KBG SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"30088855,27667800,23494856,28250421,28449295,25464108,27900361,25652421,23184435,21782149,25838844,30877071,29224748"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113835"	"2023-09-11"
"GENCC_000112-HGNC_24156-OMIM_601224-HP_0000006-GENCC_100002"	"HGNC:24156"	"PHF21A"	"MONDO:0011022"	"Potocki-Shaffer syndrome"	"OMIM:601224"	"OMIM:601224"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24156"	"PHF21A"	"OMIM:601224"	"POTOCKI-SHAFFER SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"36876344,36843358"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113836"	"2023-09-11"
"GENCC_000112-HGNC_11642-OMIM_609141-HP_0000006-GENCC_100001"	"HGNC:11642"	"ZEB1"	"MONDO:0012200"	"posterior polymorphous corneal dystrophy 3"	"OMIM:609141"	"OMIM:609141"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11642"	"ZEB1"	"OMIM:609141"	"Corneal dystrophy, posterior polymorphous, 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-07-25 00:00:00"	""	""	"29799290,23599324,16252232,26508574,15384081,25441224,20036349,26622166"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000112961"	"2023-09-11"
"GENCC_000112-HGNC_15512-OMIM_182940-HP_0000006-GENCC_100004"	"HGNC:15512"	"VANGL1"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"OMIM:182940"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15512"	"VANGL1"	"OMIM:182940"	"NEURAL TUBE DEFECTS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"17409324"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113837"	"2023-09-11"
"GENCC_000112-HGNC_7765-OMIM_601321-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"OMIM:601321"	"OMIM:601321"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7765"	"NF1"	"OMIM:601321"	"NEUROFIBROMATOSIS-NOONAN SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:30"	""	""	"12707950, 19845691"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"401"	"2020-11-25"
"GENCC_000112-HGNC_2567-OMIM_300804-HP_0001419-GENCC_100001"	"HGNC:2567"	"OFD1"	"MONDO:0010431"	"Joubert syndrome 10"	"OMIM:300804"	"OMIM:300804"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:2567"	"OFD1"	"OMIM:300804"	"JOUBERT SYNDROME TYPE 10"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:30"	""	""	"19800048, 22353940"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"402"	"2020-11-25"
"GENCC_000112-HGNC_5961-OMIM_308300-HP_0001423-GENCC_100001"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"OMIM:308300"	"OMIM:308300"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:5961"	"IKBKG"	"OMIM:308300"	"INCONTINENTIA PIGMENTI"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:30"	""	""	"9450877, 10839543"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"404"	"2020-11-25"
"GENCC_000112-HGNC_23734-OMIM_609069-HP_0000007-GENCC_100001"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"OMIM:609069"	"OMIM:609069"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23734"	"PTF1A"	"OMIM:609069"	"DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21749365,15543146,10507728"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113840"	"2023-09-11"
"GENCC_000112-HGNC_3748-OMIM_146700-HP_0000007-GENCC_100004"	"HGNC:3748"	"FLG"	"MONDO:0007810"	"autosomal dominant ichthyosis vulgaris"	"OMIM:146700"	"OMIM:146700"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3748"	"FLG"	"OMIM:146700"	"ICHTHYOSIS VULGARIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"16444271,17291859"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113842"	"2023-09-11"
"GENCC_000112-HGNC_12786-OMIM_228930-HP_0000007-GENCC_100001"	"HGNC:12786"	"WNT7A"	"MONDO:0009232"	"Fuhrmann syndrome"	"OMIM:228930"	"OMIM:228930"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12786"	"WNT7A"	"OMIM:228930"	"WNT7A- associated skeletal malformations syndrome"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16826533,9128926,20949531,21344627,21271649"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113845"	"2023-09-11"
"GENCC_000112-HGNC_10591-OMIM_170500-HP_0000006-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0008224"	"hyperkalemic periodic paralysis"	"OMIM:170500"	"OMIM:170500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10591"	"SCN4A"	"OMIM:170500"	"HYPERKALEMIC PERIODIC PARALYSIS TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1659948,1659668,15596759"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113846"	"2023-09-11"
"GENCC_000112-HGNC_1092-OMIM_110100-HP_0000006-GENCC_100002"	"HGNC:1092"	"FOXL2"	"MONDO:0007201"	"blepharophimosis, ptosis, and epicanthus inversus syndrome"	"OMIM:110100"	"OMIM:110100"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1092"	"FOXL2"	"OMIM:110100"	"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21325395,12567411,11776388,12938087,12400065,17089161,11175783,12529855,12630957,11468277"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113847"	"2023-09-11"
"GENCC_000112-HGNC_1875-OMIM_610687-HP_0000007-GENCC_100002"	"HGNC:1875"	"CFL2"	"MONDO:0012538"	"nemaline myopathy 7"	"OMIM:610687"	"OMIM:610687"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1875"	"CFL2"	"OMIM:610687"	"NEMALINE MYOPATHY 7"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"17160903"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113848"	"2023-09-11"
"GENCC_000112-HGNC_2375-OMIM_613668-HP_0000007-GENCC_100002"	"HGNC:2375"	"MED17"	"MONDO:0013351"	"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	"OMIM:613668"	"OMIM:613668"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2375"	"MED17"	"OMIM:613668"	"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"20950787"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113849"	"2023-09-11"
"GENCC_000112-HGNC_11100-OMIM_135900-HP_0000006-GENCC_100001"	"HGNC:11100"	"SMARCA4"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"OMIM:135900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11100"	"SMARCA4"	"OMIM:135900"	"COFFIN SIRIS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113850"	"2023-09-11"
"GENCC_000112-HGNC_11040-OMIM_274400-HP_0000007-GENCC_100001"	"HGNC:11040"	"SLC5A5"	"MONDO:0020716"	"familial thyroid dyshormonogenesis 1"	"OMIM:274400"	"OMIM:274400"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11040"	"SLC5A5"	"OMIM:274400"	"THYROID HORMONOGENESIS DEFECT I"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"3998954,9745458,9171822,9388506,3451231,9486973"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113851"	"2023-09-11"
"GENCC_000112-HGNC_3588-OMIM_614082-HP_0000007-GENCC_100001"	"HGNC:3588"	"FANCG"	"MONDO:0013565"	"Fanconi anemia complementation group G"	"OMIM:614082"	"OMIM:614082"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3588"	"FANCG"	"OMIM:614082"	"FANCONI ANEMIA, COMPLEMENTATION GROUP G"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12552564,10807541,9806548,15657175"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113853"	"2023-09-11"
"GENCC_000112-HGNC_10847-OMIM_246560-HP_0000006-GENCC_100004"	"HGNC:10847"	"FBXW4"	"MONDO:0009525"	"split hand-foot malformation 3"	"OMIM:246560"	"OMIM:246560"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10847"	"FBXW4"	"OMIM:246560"	"SPLIT-HAND/FOOT MALFORMATION TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113854"	"2023-09-11"
"GENCC_000112-HGNC_757-OMIM_601552-HP_0000007-GENCC_100002"	"HGNC:757"	"ASPH"	"MONDO:0011106"	"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	"OMIM:601552"	"OMIM:601552"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:757"	"ASPH"	"OMIM:601552"	"FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24768550"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113855"	"2023-09-11"
"GENCC_000112-HGNC_12412-OMIM_615763-HP_0000006-GENCC_100001"	"HGNC:12412"	"TUBB2A"	"MONDO:0014337"	"complex cortical dysplasia with other brain malformations 5"	"OMIM:615763"	"OMIM:615763"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12412"	"TUBB2A"	"OMIM:615763"	"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24702957"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113856"	"2023-09-11"
"GENCC_000112-HGNC_20376-OMIM_272200-HP_0000007-GENCC_100001"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"OMIM:272200"	"OMIM:272200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20376"	"SUMF1"	"OMIM:272200"	"SULFATIDOSIS, JUVENILE, AUSTIN TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12757706,12757705,21224894"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113857"	"2023-09-11"
"GENCC_000112-HGNC_24579-OMIM_614869-HP_0000007-GENCC_100001"	"HGNC:24579"	"CIB2"	"MONDO:0013935"	"Usher syndrome type 1J"	"OMIM:614869"	"OMIM:614869"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24579"	"CIB2"	"OMIM:614869"	"USHER SYNDROME TYPE 1J"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18505454,23023331"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113858"	"2023-09-11"
"GENCC_000112-HGNC_21158-OMIM_614192-HP_0000006-GENCC_100004"	"HGNC:21158"	"RNF135"	"MONDO:0013617"	"overgrowth-macrocephaly-facial dysmorphism syndrome"	"OMIM:614192"	"OMIM:614192"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21158"	"RNF135"	"OMIM:614192"	"MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"17632510"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113859"	"2023-09-11"
"GENCC_000112-HGNC_24564-OMIM_615948-HP_0000007-GENCC_100002"	"HGNC:24564"	"C2CD3"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"OMIM:615948"	"OMIM:615948"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24564"	"C2CD3"	"OMIM:615948"	"OROFACIODIGITAL SYNDROME XIV"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24997988"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113861"	"2023-09-11"
"GENCC_000112-HGNC_12370-OMIM_614464-HP_0000007-GENCC_100001"	"HGNC:12370"	"CEP41"	"MONDO:0013763"	"Joubert syndrome 15"	"OMIM:614464"	"OMIM:614464"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12370"	"CEP41"	"OMIM:614464"	"JOUBERT SYNDROME 15"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22246503"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113862"	"2023-09-11"
"GENCC_000112-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"OMIM:162200"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7765"	"NF1"	"OMIM:162200"	"NEUROFIBROMATOSIS TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"30308447,11704931,15520408,19449407,15523642,19845691,9003501,7633431,1568247,1783401,7655472,9668168,11258625,1719426,10712197,12707950,8317503,10677298,8664912,9529361,1937470,13680360,12438263,1302608,1745350,12483293,15948193"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113864"	"2023-09-11"
"GENCC_000112-HGNC_4845-OMIM_615871-HP_0000006-GENCC_100001"	"HGNC:4845"	"HCN1"	"MONDO:0014377"	"developmental and epileptic encephalopathy, 24"	"OMIM:615871"	"OMIM:615871"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4845"	"HCN1"	"OMIM:615871"	"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24747641"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113865"	"2023-09-11"
"GENCC_000112-HGNC_11766-OMIM_131300-HP_0000006-GENCC_100001"	"HGNC:11766"	"TGFB1"	"MONDO:0007542"	"Camurati-Engelmann disease"	"OMIM:131300"	"OMIM:131300"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11766"	"TGFB1"	"OMIM:131300"	"CAMURATI-ENGELMANN DISEASE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11062463,15103729,10973241"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113866"	"2023-09-11"
"GENCC_000112-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100001"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"OMIM:158350"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"LHERMITTE-DUCLOS DISEASE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-09-24 00:00:00"	""	""	"11238682,11748304,9140396,12844284,9425889,15805158,23160955,9832031,9241266,12471211,10353779,9467011,9832032,10777358,17286265,9259288,11536076,10051160"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113332"	"2023-09-11"
"GENCC_000112-HGNC_3688-OMIM_166250-HP_0000006-GENCC_100001"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"OMIM:166250"	"OMIM:166250"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3688"	"FGFR1"	"OMIM:166250"	"OSTEOGLOPHONIC DYSPLASIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15625620,7422392"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113868"	"2023-09-11"
"GENCC_000112-HGNC_10818-OMIM_252900-HP_0000007-GENCC_100001"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"OMIM:252900"	"OMIM:252900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10818"	"SGSH"	"OMIM:252900"	"MUCOPOLYSACCHARIDOSIS TYPE 3A"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113869"	"2023-09-11"
"GENCC_000112-HGNC_11843-OMIM_613087-HP_0000006-GENCC_100004"	"HGNC:11843"	"TLL1"	"MONDO:0013123"	"atrial septal defect 6"	"OMIM:613087"	"OMIM:613087"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11843"	"TLL1"	"OMIM:613087"	"ATRIAL SEPTAL DEFECT TYPE 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"18830233"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113870"	"2023-09-11"
"GENCC_000112-HGNC_4580-OMIM_611092-HP_0000007-GENCC_100001"	"HGNC:4580"	"GRIK2"	"MONDO:0012614"	"intellectual disability, autosomal recessive 6"	"OMIM:611092"	"OMIM:611092"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4580"	"GRIK2"	"OMIM:611092"	"INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 6"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17847003"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113871"	"2023-09-11"
"GENCC_000112-HGNC_8487-OMIM_224690-HP_0000007-GENCC_100001"	"HGNC:8487"	"ORC1"	"MONDO:0009143"	"Meier-Gorlin syndrome 1"	"OMIM:224690"	"OMIM:224690"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8487"	"ORC1"	"OMIM:224690"	"MEIER-GORLIN SYNDROME 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21358633"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113872"	"2023-09-11"
"GENCC_000112-HGNC_3586-OMIM_600901-HP_0000007-GENCC_100001"	"HGNC:3586"	"FANCE"	"MONDO:0010953"	"Fanconi anemia complementation group E"	"OMIM:600901"	"OMIM:600901"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3586"	"FANCE"	"OMIM:600901"	"FANCONI ANEMIA, COMPLEMENTATION GROUP E"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11001585,9382107,10205272"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113873"	"2023-09-11"
"GENCC_000112-HGNC_13210-OMIM_600151-HP_0000007-GENCC_100001"	"HGNC:13210"	"ARL6"	"MONDO:0010832"	"Bardet-Biedl syndrome 3"	"OMIM:600151"	"OMIM:600151"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13210"	"ARL6"	"OMIM:600151"	"BARDET-BIEDL SYNDROME TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15258860,16606853,10973238,15314642,9714014,11567139,8298649,12118255,20618352,18203199,18327255,15137946,20805367,17160889,12524598,16582908,11381270,20671153,12016587,14520415,7987310,7711739,12567324,21937992,16308660,12837689,10973251,22353939,16380913"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113874"	"2023-09-11"
"GENCC_000112-HGNC_21100-OMIM_616579-HP_0000006-GENCC_100004"	"HGNC:21100"	"QKI"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21100"	"QKI"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"20082458"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113875"	"2023-09-11"
"GENCC_000112-HGNC_5391-OMIM_607016-HP_0000007-GENCC_100001"	"HGNC:5391"	"IDUA"	"MONDO:0011760"	"Scheie syndrome"	"OMIM:607016"	"OMIM:607016"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5391"	"IDUA"	"OMIM:607016"	"MUCOPOLYSACCHARIDOSIS TYPE 1S"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7951228,10735634,8664897,4221470,10466419,7550232,6821579,9391892,8328452"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113876"	"2023-09-11"
"GENCC_000112-HGNC_9647-OMIM_613611-HP_0000007-GENCC_100002"	"HGNC:9647"	"PTPN14"	"MONDO:0013324"	"lymphedema-posterior choanal atresia syndrome"	"OMIM:613611"	"OMIM:613611"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9647"	"PTPN14"	"OMIM:613611"	"CHOANAL ATRESIA AND LYMPHEDEMA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"20826270"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113879"	"2023-09-11"
"GENCC_000112-HGNC_13433-OMIM_607313-HP_0000007-GENCC_100001"	"HGNC:13433"	"ROBO3"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"OMIM:607313"	"OMIM:607313"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13433"	"ROBO3"	"OMIM:607313"	"FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15105459,16525029"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113880"	"2023-09-11"
"GENCC_000112-HGNC_966-OMIM_209900-HP_0000007-GENCC_100001"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"OMIM:209900"	"OMIM:209900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:966"	"BBS1"	"OMIM:209900"	"BARDET-BIEDL SYNDROME TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10577922,12524598,23143442,12837689,12118255,20177705,10577921"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113881"	"2023-09-11"
"GENCC_000112-HGNC_1494-OMIM_613456-HP_0000007-GENCC_100001"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"OMIM:613456"	"OMIM:613456"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1494"	"ALX1"	"OMIM:613456"	"FRONTONASAL DYSPLASIA TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20451171,27324866"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113882"	"2023-09-11"
"GENCC_000112-HGNC_14234-OMIM_130650-HP_0000006-GENCC_100001"	"HGNC:14234"	"NSD1"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"OMIM:130650"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14234"	"NSD1"	"OMIM:130650"	"BECKWITH-WIEDEMANN SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-09-01 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000112433"	"2023-09-11"
"GENCC_000112-HGNC_1071-OMIM_607932-HP_0000006-GENCC_100001"	"HGNC:1071"	"BMP4"	"MONDO:0011936"	"microphthalmia with brain and digit anomalies"	"OMIM:607932"	"OMIM:607932"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1071"	"BMP4"	"OMIM:607932"	"BMP4-associated malformations"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18252212,19249007,21340693"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113883"	"2023-09-11"
"GENCC_000112-HGNC_7494-OMIM_545000-HP_0001427-GENCC_100001"	"HGNC:7494"	"MT-TP"	"MONDO:0010790"	"MERRF syndrome"	"OMIM:545000"	"OMIM:545000"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000112"	"G2P"	"HGNC:7494"	"MT-TP"	"OMIM:545000"	"MERRF"	"HP:0001427"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113885"	"2023-09-11"
"GENCC_000112-HGNC_19358-OMIM_607143-HP_0000007-GENCC_100001"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"OMIM:607143"	"OMIM:607143"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19358"	"ALG12"	"OMIM:607143"	"CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12093361,11983712,12217961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113886"	"2023-09-11"
"GENCC_000112-HGNC_8527-OMIM_245050-HP_0000007-GENCC_100001"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"OMIM:245050"	"OMIM:245050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8527"	"OXCT1"	"OMIM:245050"	"SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1405472,10964512,23281106,9671268"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113887"	"2023-09-11"
"GENCC_000112-HGNC_6697-OMIM_607634-HP_0000006-GENCC_100001"	"HGNC:6697"	"LRP5"	"MONDO:0011877"	"autosomal dominant osteopetrosis 1"	"OMIM:607634"	"OMIM:607634"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6697"	"LRP5"	"OMIM:607634"	"OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12579474"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113888"	"2023-09-11"
"GENCC_000112-HGNC_7788-OMIM_614753-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"OMIM:614753"	"OMIM:614753"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7788"	"NFIX"	"OMIM:614753"	"SOTOS-LIKE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:32"	""	""	"20673863, 22301465"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"456"	"2020-11-25"
"GENCC_000112-HGNC_28486-OMIM_610951-HP_0000007-GENCC_100001"	"HGNC:28486"	"MFSD8"	"MONDO:0012588"	"neuronal ceroid lipofuscinosis 7"	"OMIM:610951"	"OMIM:610951"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28486"	"MFSD8"	"OMIM:610951"	"MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113889"	"2023-09-11"
"GENCC_000112-HGNC_3434-OMIM_610756-HP_0000007-GENCC_100001"	"HGNC:3434"	"ERCC2"	"MONDO:0012553"	"cerebrooculofacioskeletal syndrome 2"	"OMIM:610756"	"OMIM:610756"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3434"	"ERCC2"	"OMIM:610756"	"CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11443545,15220921,8571952,9758621,9195225,9101292,7585650,9012405,11709541,7849702,7920640"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113890"	"2023-09-11"
"GENCC_000112-HGNC_23041-OMIM_614652-HP_0000007-GENCC_100001"	"HGNC:23041"	"PDSS2"	"MONDO:0013838"	"coenzyme Q10 deficiency, primary, 3"	"OMIM:614652"	"OMIM:614652"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23041"	"PDSS2"	"OMIM:614652"	"COENZYME Q10 DEFICIENCY, PRIMARY, 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17186472"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113891"	"2023-09-11"
"GENCC_000112-HGNC_4696-OMIM_253220-HP_0000007-GENCC_100001"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"OMIM:253220"	"OMIM:253220"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4696"	"GUSB"	"OMIM:253220"	"MUCOPOLYSACCHARIDOSIS TYPE 7"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1702266,12522561,4265197,6811712,1833732,9490302,7633414,7573038"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113892"	"2023-09-11"
"GENCC_000112-HGNC_4800-OMIM_300438-HP_0001419-GENCC_100001"	"HGNC:4800"	"HSD17B10"	"MONDO:0010327"	"HSD10 mitochondrial disease"	"OMIM:300438"	"OMIM:300438"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:4800"	"HSD17B10"	"OMIM:300438"	"2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:33"	""	""	"16148061, 12696021, 12555940"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"461"	"2020-11-25"
"GENCC_000112-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100001"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"OMIM:615355"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"NOONAN SYNDROME 8"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23791108"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113894"	"2023-09-11"
"GENCC_000112-HGNC_18791-OMIM_601410-HP_0000007-GENCC_100001"	"HGNC:18791"	"ZFP57"	"MONDO:0011073"	"diabetes mellitus, transient neonatal, 1"	"OMIM:601410"	"OMIM:601410"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18791"	"ZFP57"	"OMIM:601410"	"DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18622393"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113895"	"2023-09-11"
"GENCC_000112-HGNC_3436-OMIM_615272-HP_0000007-GENCC_100002"	"HGNC:3436"	"ERCC4"	"MONDO:0014108"	"Fanconi anemia complementation group Q"	"OMIM:615272"	"OMIM:615272"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3436"	"ERCC4"	"OMIM:615272"	"FANCONI ANEMIA, COMPLEMENTATION GROUP Q"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"3372781,17183314,8797827,23623386,23623389"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113897"	"2023-09-11"
"GENCC_000112-HGNC_11521-OMIM_146110-HP_0000007-GENCC_100002"	"HGNC:11521"	"TAC3"	"MONDO:0007794"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"OMIM:146110"	"OMIM:146110"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11521"	"TAC3"	"OMIM:146110"	"HYPOGONADOTROPIC HYPOGONADISM"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"19079066"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113898"	"2023-09-11"
"GENCC_000112-HGNC_15888-OMIM_615190-HP_0000007-GENCC_100001"	"HGNC:15888"	"RTEL1"	"MONDO:0014076"	"dyskeratosis congenita, autosomal recessive 5"	"OMIM:615190"	"OMIM:615190"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15888"	"RTEL1"	"OMIM:615190"	"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23453664"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113899"	"2023-09-11"
"GENCC_000112-HGNC_4220-OMIM_228900-HP_0000007-GENCC_100001"	"HGNC:4220"	"GDF5"	"MONDO:0009231"	"acromesomelic dysplasia 2B"	"OMIM:228900"	"OMIM:228900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4220"	"GDF5"	"OMIM:228900"	"DU PAN SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:33"	""	""	"16222676, 18629880, 12121354"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"469"	"2020-11-25"
"GENCC_000112-HGNC_7150-OMIM_248360-HP_0000007-GENCC_100001"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"OMIM:248360"	"OMIM:248360"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7150"	"MLYCD"	"OMIM:248360"	"MALONYL-COA DECARBOXYLASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113901"	"2023-09-11"
"GENCC_000112-HGNC_5466-OMIM_130650-HP_0012275-GENCC_100001"	"HGNC:5466"	"IGF2"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"OMIM:130650"	"GENCC:100001"	"Definitive"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting HP:0012275"	"GENCC:000112"	"G2P"	"HGNC:5466"	"IGF2"	"OMIM:130650"	"BECKWITH-WIEDEMANN SYNDROME"	"HP:0012275"	"Autosomal dominant inheritance with maternal imprinting"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:33"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"473"	"2020-11-25"
"GENCC_000112-HGNC_21863-OMIM_612079-HP_0000007-GENCC_100004"	"HGNC:21863"	"RBM28"	"MONDO:0012794"	"ANE syndrome"	"OMIM:612079"	"OMIM:612079"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21863"	"RBM28"	"OMIM:612079"	"ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"18439547"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113904"	"2023-09-11"
"GENCC_000112-HGNC_26527-OMIM_252930-HP_0000007-GENCC_100001"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"OMIM:252930"	"OMIM:252930"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26527"	"HGSNAT"	"OMIM:252930"	"MUCOPOLYSACCHARIDOSIS TYPE 3C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16960811,18518886,17033958,18024218,20825431"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113905"	"2023-09-11"
"GENCC_000112-HGNC_4189-OMIM_231670-HP_0000007-GENCC_100001"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"OMIM:231670"	"OMIM:231670"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4189"	"GCDH"	"OMIM:231670"	"GLUTARICACIDEMIA TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8900228,10699052,8900227,11174631,7795610"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113906"	"2023-09-11"
"GENCC_000112-HGNC_8966-OMIM_280000-HP_0000007-GENCC_100001"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"OMIM:280000"	"OMIM:280000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8966"	"PIGL"	"OMIM:280000"	"ZUNICH NEUROECTODERMAL SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22444671"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113907"	"2023-09-11"
"GENCC_000112-HGNC_60-OMIM_239850-HP_0000006-GENCC_100001"	"HGNC:60"	"ABCC9"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"OMIM:239850"	"OMIM:239850"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:60"	"ABCC9"	"OMIM:239850"	"CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113911"	"2023-09-11"
"GENCC_000112-HGNC_12637-OMIM_300867-HP_0001423-GENCC_100001"	"HGNC:12637"	"KDM6A"	"MONDO:0010465"	"Kabuki syndrome 2"	"OMIM:300867"	"OMIM:300867"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:12637"	"KDM6A"	"OMIM:300867"	"KABUKI SYNDROME 2"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:33"	""	""	"22197486, 23076834"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"483"	"2020-11-25"
"GENCC_000112-HGNC_10853-OMIM_249700-HP_0001419-GENCC_100001"	"HGNC:10853"	"SHOX"	"MONDO:0009588"	"Langer mesomelic dysplasia"	"OMIM:249700"	"OMIM:249700"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:10853"	"SHOX"	"OMIM:249700"	"LANGER MESOMELIC DYSPLASIA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:33"	""	""	"12116254, 9590292, 17935511, 11889214"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"485"	"2020-11-25"
"GENCC_000112-HGNC_30500-OMIM_602066-HP_0000006-GENCC_100001"	"HGNC:30500"	"PRRT2"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"OMIM:602066"	"OMIM:602066"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30500"	"PRRT2"	"OMIM:602066"	"BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22243967,22744660,22543779"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113916"	"2023-09-11"
"GENCC_000112-HGNC_4221-OMIM_118100-HP_0000006-GENCC_100001"	"HGNC:4221"	"GDF6"	"MONDO:0007306"	"Klippel-Feil syndrome 1, autosomal dominant"	"OMIM:118100"	"OMIM:118100"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4221"	"GDF6"	"OMIM:118100"	"GDF6 Oculo-Skeletal Syndrome"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19129173,21070663,18425797,25457163,32737436"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113917"	"2023-09-11"
"GENCC_000112-HGNC_28396-OMIM_216360-HP_0000007-GENCC_100001"	"HGNC:28396"	"TMEM67"	"MONDO:0800103"	"COACH syndrome 1"	"OMIM:216360"	"OMIM:216360"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28396"	"TMEM67"	"OMIM:216360"	"COACH SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17377820,16415887"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113918"	"2023-09-11"
"GENCC_000112-HGNC_12874-OMIM_314390-HP_0001419-GENCC_100001"	"HGNC:12874"	"ZIC3"	"MONDO:0010752"	"VACTERL association, X-linked, with or without hydrocephalus"	"OMIM:314390"	"OMIM:314390"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:12874"	"ZIC3"	"OMIM:314390"	"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:34"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"489"	"2020-11-25"
"GENCC_000112-HGNC_6233-OMIM_616187-HP_0000006-GENCC_100001"	"HGNC:6233"	"KCNC1"	"MONDO:0014521"	"progressive myoclonic epilepsy type 7"	"OMIM:616187"	"OMIM:616187"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6233"	"KCNC1"	"OMIM:616187"	"EPILEPSY, PROGRESSIVE MYOCLONIC 7"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25401298"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113922"	"2023-09-11"
"GENCC_000112-HGNC_1962-OMIM_605375-HP_0000006-GENCC_100002"	"HGNC:1962"	"CHRNB2"	"MONDO:0011545"	"autosomal dominant nocturnal frontal lobe epilepsy 3"	"OMIM:605375"	"OMIM:605375"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1962"	"CHRNB2"	"OMIM:605375"	"CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"11062464"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113923"	"2023-09-11"
"GENCC_000112-HGNC_7105-OMIM_103470-HP_0000006-GENCC_100001"	"HGNC:7105"	"MITF"	"MONDO:0018138"	"ocular albinism with congenital sensorineural hearing loss"	"OMIM:103470"	"OMIM:103470"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7105"	"MITF"	"OMIM:103470"	"WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-08-29 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113175"	"2023-09-11"
"GENCC_000112-HGNC_25221-OMIM_277410-HP_0000007-GENCC_100001"	"HGNC:25221"	"MMADHC"	"MONDO:0010185"	"methylmalonic aciduria and homocystinuria type cblD"	"OMIM:277410"	"OMIM:277410"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25221"	"MMADHC"	"OMIM:277410"	"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113924"	"2023-09-11"
"GENCC_000112-HGNC_4118-OMIM_230200-HP_0000007-GENCC_100001"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"OMIM:230200"	"OMIM:230200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4118"	"GALK1"	"OMIM:230200"	"GALACTOSEMIA II"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10790206,10521295,11231902,7670469"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113925"	"2023-09-11"
"GENCC_000112-HGNC_8082-OMIM_310500-HP_0001419-GENCC_100001"	"HGNC:8082"	"NYX"	"MONDO:0010690"	"congenital stationary night blindness 1A"	"OMIM:310500"	"OMIM:310500"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8082"	"NYX"	"OMIM:310500"	"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:34"	""	""	"16670814, 11062472, 11062471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"497"	"2020-11-25"
"GENCC_000112-HGNC_18688-OMIM_219730-HP_0000007-GENCC_100001"	"HGNC:18688"	"CRB2"	"MONDO:0009063"	"ventriculomegaly-cystic kidney disease"	"OMIM:219730"	"OMIM:219730"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18688"	"CRB2"	"OMIM:219730"	"VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25557780"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113927"	"2023-09-11"
"GENCC_000112-HGNC_8636-OMIM_266150-HP_0000007-GENCC_100001"	"HGNC:8636"	"PC"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"OMIM:266150"	"OMIM:266150"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8636"	"PC"	"OMIM:266150"	"PYRUVATE CARBOXYLASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9585612,19306334,9585002,12112657"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113928"	"2023-09-11"
"GENCC_000112-HGNC_14432-OMIM_614424-HP_0000007-GENCC_100001"	"HGNC:14432"	"TMEM237"	"MONDO:0013745"	"Joubert syndrome 14"	"OMIM:614424"	"OMIM:614424"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14432"	"TMEM237"	"OMIM:614424"	"JOUBERT SYNDROME 14"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14760273,22152675,17603801"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113929"	"2023-09-11"
"GENCC_000112-HGNC_14153-OMIM_614807-HP_0000006-GENCC_100002"	"HGNC:14153"	"CCDC78"	"MONDO:0013890"	"congenital myopathy with internal nuclei and atypical cores"	"OMIM:614807"	"OMIM:614807"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14153"	"CCDC78"	"OMIM:614807"	"CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22818856"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113930"	"2023-09-11"
"GENCC_000112-HGNC_4173-OMIM_607941-HP_0000006-GENCC_100001"	"HGNC:4173"	"GATA4"	"MONDO:0011938"	"atrial septal defect 2"	"OMIM:607941"	"OMIM:607941"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4173"	"GATA4"	"OMIM:607941"	"ATRIAL SEPTAL DEFECT TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17643447,18055909,20347099,12845333,20659440,15810002"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113931"	"2023-09-11"
"GENCC_000112-HGNC_10596-OMIM_614306-HP_0000006-GENCC_100001"	"HGNC:10596"	"SCN8A"	"MONDO:0013680"	"cognitive impairment with or without cerebellar ataxia"	"OMIM:614306"	"OMIM:614306"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10596"	"SCN8A"	"OMIM:614306"	"COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:34"	""	""	"16236810"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"503"	"2020-11-25"
"GENCC_000112-HGNC_9005-OMIM_180550-HP_0000006-GENCC_100001"	"HGNC:9005"	"PITX2"	"MONDO:0008387"	"ring dermoid of cornea"	"OMIM:180550"	"OMIM:180550"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9005"	"PITX2"	"OMIM:180550"	"RING DERMOID OF CORNEA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22224469,15591271"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113933"	"2023-09-11"
"GENCC_000112-HGNC_4083-OMIM_612269-HP_0000006-GENCC_100001"	"HGNC:4083"	"GABRB3"	"MONDO:0012843"	"epilepsy, childhood absence, susceptibility to, 5"	"OMIM:612269"	"OMIM:612269"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4083"	"GABRB3"	"OMIM:612269"	"CHILDHOOD ABSENCE EPILEPSY TYPE 5"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"27476654,23934111,18514161"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113934"	"2023-09-11"
"GENCC_000112-HGNC_2389-OMIM_613763-HP_0000006-GENCC_100004"	"HGNC:2389"	"CRYAB"	"MONDO:0013411"	"cataract 16 multiple types"	"OMIM:613763"	"OMIM:613763"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2389"	"CRYAB"	"OMIM:613763"	"CATARACT POSTERIOR POLAR TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"11577372"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113935"	"2023-09-11"
"GENCC_000112-HGNC_3809-OMIM_265380-HP_0000006-GENCC_100001"	"HGNC:3809"	"FOXF1"	"MONDO:0009934"	"alveolar capillary dysplasia with misalignment of pulmonary veins"	"OMIM:265380"	"OMIM:265380"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3809"	"FOXF1"	"OMIM:265380"	"ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113936"	"2023-09-11"
"GENCC_000112-HGNC_22965-OMIM_214100-HP_0000007-GENCC_100001"	"HGNC:22965"	"PEX26"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"OMIM:214100"	"OMIM:214100"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:22965"	"PEX26"	"OMIM:214100"	"ZELLWEGER SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12851857"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113937"	"2023-09-11"
"GENCC_000112-HGNC_11474-OMIM_256000-HP_0000007-GENCC_100001"	"HGNC:11474"	"SURF1"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11474"	"SURF1"	"OMIM:256000"	"LEIGH SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113938"	"2023-09-11"
"GENCC_000112-HGNC_4586-OMIM_209850-HP_0000006-GENCC_100001"	"HGNC:4586"	"GRIN2B"	"MONDO:0020643"	"autism susceptibility 1"	"OMIM:209850"	"OMIM:209850"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4586"	"GRIN2B"	"OMIM:209850"	"AUTISM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:35"	""	""	"23160955"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"513"	"2020-11-25"
"GENCC_000112-HGNC_6388-OMIM_152950-HP_0000006-GENCC_100001"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"OMIM:152950"	"OMIM:152950"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6388"	"KIF11"	"OMIM:152950"	"AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15930898,22284827"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113939"	"2023-09-11"
"GENCC_000112-HGNC_13723-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:13723"	"CTCF"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13723"	"CTCF"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23746550"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113940"	"2023-09-11"
"GENCC_000112-HGNC_3513-OMIM_133701-HP_0000006-GENCC_100001"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"OMIM:133701"	"OMIM:133701"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3513"	"EXT2"	"OMIM:133701"	"EXOSTOSES, MULTIPLE, TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9326317"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113941"	"2023-09-11"
"GENCC_000112-HGNC_68-OMIM_614857-HP_0000007-GENCC_100002"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"OMIM:614857"	"OMIM:614857"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:68"	"ABCD4"	"OMIM:614857"	"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22922874"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113943"	"2023-09-11"
"GENCC_000112-HGNC_8148-OMIM_300486-HP_0001419-GENCC_100001"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"OMIM:300486"	"OMIM:300486"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8148"	"OPHN1"	"OMIM:300486"	"MENTAL RETARDATION X-LINKED OPHN1-RELATED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:35"	""	""	"9582072, 16158428, 20528889, 12805098, 12807966"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"519"	"2020-11-25"
"GENCC_000112-HGNC_20342-OMIM_300577-HP_0001423-GENCC_100004"	"HGNC:20342"	"ZDHHC15"	"MONDO:0010363"	"intellectual disability, X-linked 91"	"OMIM:300577"	"OMIM:300577"	"GENCC:100004"	"Limited"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:20342"	"ZDHHC15"	"OMIM:300577"	"MENTAL RETARDATION X-LINKED TYPE 91"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:35"	""	""	"15915161"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"520"	"2020-11-25"
"GENCC_000112-HGNC_89-OMIM_201450-HP_0000007-GENCC_100001"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"OMIM:201450"	"OMIM:201450"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:89"	"ACADM"	"OMIM:201450"	"MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7603790,1684086,7929823,1972503,6434827,11409868,9158144,11349232"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113946"	"2023-09-11"
"GENCC_000112-HGNC_11528-OMIM_146110-HP_0000007-GENCC_100002"	"HGNC:11528"	"TACR3"	"MONDO:0007794"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"OMIM:146110"	"OMIM:146110"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11528"	"TACR3"	"OMIM:146110"	"HYPOGONADOTROPIC HYPOGONADISM"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"19079066"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113948"	"2023-09-11"
"GENCC_000112-HGNC_16725-OMIM_614935-HP_0000007-GENCC_100001"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"OMIM:614935"	"OMIM:614935"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16725"	"DNAAF11"	"OMIM:614935"	"PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23122589"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113949"	"2023-09-11"
"GENCC_000112-HGNC_1497-OMIM_300749-HP_0001423-GENCC_100001"	"HGNC:1497"	"CASK"	"MONDO:0010417"	"syndromic X-linked intellectual disability Najm type"	"OMIM:300749"	"OMIM:300749"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:1497"	"CASK"	"OMIM:300749"	"MENTAL RETARDATION X-LINKED CASK-RELATED"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:35"	""	""	"19165920, 21954287"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"525"	"2020-11-25"
"GENCC_000112-HGNC_3483-OMIM_231680-HP_0000007-GENCC_100001"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"OMIM:231680"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3483"	"ETFDH"	"OMIM:231680"	"GLUTARIC ACIDURIA TYPE 2C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113951"	"2023-09-11"
"GENCC_000112-HGNC_11743-OMIM_169100-HP_0000006-GENCC_100001"	"HGNC:11743"	"TFAP2B"	"MONDO:0008209"	"Char syndrome"	"OMIM:169100"	"OMIM:169100"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11743"	"TFAP2B"	"OMIM:169100"	"CHAR SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10802654,7645594,11505339"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113952"	"2023-09-11"
"GENCC_000112-HGNC_18084-OMIM_614594-HP_0000006-GENCC_100002"	"HGNC:18084"	"TRPV3"	"MONDO:0100296"	"Olmsted syndrome 1"	"OMIM:614594"	"OMIM:614594"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18084"	"TRPV3"	"OMIM:614594"	"OLMSTED SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22405088"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113955"	"2023-09-11"
"GENCC_000112-HGNC_15924-OMIM_607323-HP_0000006-GENCC_100001"	"HGNC:15924"	"SALL4"	"MONDO:0011812"	"Duane-radial ray syndrome"	"OMIM:607323"	"OMIM:607323"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15924"	"SALL4"	"OMIM:607323"	"DUANE-RADIAL RAY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12393809,17256792,26791099,12395297"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000115040"	"2023-09-11"
"GENCC_000112-HGNC_25839-OMIM_119300-HP_0000006-GENCC_100001"	"HGNC:25839"	"GRHL3"	"MONDO:0007333"	"van der Woude syndrome 1"	"OMIM:119300"	"OMIM:119300"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25839"	"GRHL3"	"OMIM:119300"	"VAN DER WOUDE SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24360809"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113956"	"2023-09-11"
"GENCC_000112-HGNC_6121-OMIM_119300-HP_0000006-GENCC_100001"	"HGNC:6121"	"IRF6"	"MONDO:0007333"	"van der Woude syndrome 1"	"OMIM:119300"	"OMIM:119300"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6121"	"IRF6"	"OMIM:119300"	"VAN DER WOUDE SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12219090,19842205,14757865,18478600,12920575,14618417"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113957"	"2023-09-11"
"GENCC_000112-HGNC_15853-OMIM_608097-HP_0000007-GENCC_100002"	"HGNC:15853"	"ARFGEF2"	"MONDO:0011966"	"periventricular heterotopia with microcephaly, autosomal recessive"	"OMIM:608097"	"OMIM:608097"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15853"	"ARFGEF2"	"OMIM:608097"	"PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"14647276"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113958"	"2023-09-11"
"GENCC_000112-HGNC_26558-OMIM_236680-HP_0000007-GENCC_100001"	"HGNC:26558"	"HYLS1"	"MONDO:0009365"	"hydrolethalus syndrome 1"	"OMIM:236680"	"OMIM:236680"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26558"	"HYLS1"	"OMIM:236680"	"HYDROLETHALUS SYNDROME TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15843405"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113959"	"2023-09-11"
"GENCC_000112-HGNC_10519-OMIM_270550-HP_0000007-GENCC_100002"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"OMIM:270550"	"OMIM:270550"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10519"	"SACS"	"OMIM:270550"	"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"10655055"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113960"	"2023-09-11"
"GENCC_000112-HGNC_17397-OMIM_614008-HP_0000007-GENCC_100002"	"HGNC:17397"	"BANF1"	"MONDO:0013523"	"Nestor-Guillermo progeria syndrome"	"OMIM:614008"	"OMIM:614008"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17397"	"BANF1"	"OMIM:614008"	"NESTOR-GUILLERMO PROGERIA SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21549337"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113961"	"2023-09-11"
"GENCC_000112-HGNC_18475-OMIM_300799-HP_0001419-GENCC_100001"	"HGNC:18475"	"ZDHHC9"	"MONDO:0010427"	"syndromic X-linked intellectual disability Raymond type"	"OMIM:300799"	"OMIM:300799"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:18475"	"ZDHHC9"	"OMIM:300799"	"MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:36"	""	""	"17436253, 26000327"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"540"	"2020-11-25"
"GENCC_000112-HGNC_3800-OMIM_602482-HP_0000006-GENCC_100001"	"HGNC:3800"	"FOXC1"	"MONDO:0011233"	"Axenfeld-Rieger syndrome type 3"	"OMIM:602482"	"OMIM:602482"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3800"	"FOXC1"	"OMIM:602482"	"AXENFELD-RIEGER SYNDROME TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9792859,10713890,11007653,9326342,19793056,18498376,9620769,17210863,11170889"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113965"	"2023-09-11"
"GENCC_000112-HGNC_6284-OMIM_609446-HP_0000006-GENCC_100001"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"OMIM:609446"	"OMIM:609446"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6284"	"KCNMA1"	"OMIM:609446"	"GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"29330545,31152168,32132200,15937479,33178487,34224328"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113966"	"2023-09-11"
"GENCC_000112-HGNC_7716-OMIM_252010-HP_0000007-GENCC_100001"	"HGNC:7716"	"NDUFV1"	"MONDO:0100224"	"mitochondrial complex I deficiency, nuclear type 1"	"OMIM:252010"	"OMIM:252010"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7716"	"NDUFV1"	"OMIM:252010"	"MITOCHONDRIAL COMPLEX I DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113967"	"2023-09-11"
"GENCC_000112-HGNC_23406-OMIM_612379-HP_0000007-GENCC_100001"	"HGNC:23406"	"DOLK"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23406"	"DOLK"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17273964,22242004"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113968"	"2023-09-11"
"GENCC_000112-HGNC_13556-OMIM_218330-HP_0000007-GENCC_100001"	"HGNC:13556"	"IFT122"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"OMIM:218330"	"OMIM:218330"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13556"	"IFT122"	"OMIM:218330"	"CRANIOECTODERMAL DYSPLASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20493458,19760620,17022080"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113969"	"2023-09-11"
"GENCC_000112-HGNC_2488-OMIM_187500-HP_0000006-GENCC_100001"	"HGNC:2488"	"NKX2-5"	"MONDO:0008542"	"tetralogy of fallot"	"OMIM:187500"	"OMIM:187500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2488"	"NKX2-5"	"OMIM:187500"	"TETRALOGY OF FALLOT"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11714651,20807224,19948535"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113970"	"2023-09-11"
"GENCC_000112-HGNC_11051-OMIM_149400-HP_0000007-GENCC_100001"	"HGNC:11051"	"SLC6A5"	"MONDO:0007868"	"hyperekplexia 1"	"OMIM:149400"	"OMIM:149400"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11051"	"SLC6A5"	"OMIM:149400"	"HYPEREKPLEXIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113971"	"2023-09-11"
"GENCC_000112-HGNC_18340-OMIM_614378-HP_0000007-GENCC_100001"	"HGNC:18340"	"WDR19"	"MONDO:0013719"	"cranioectodermal dysplasia 4"	"OMIM:614378"	"OMIM:614378"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18340"	"WDR19"	"OMIM:614378"	"CRANIOECTODERMAL DYSPLASIA 4"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22019273"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113972"	"2023-09-11"
"GENCC_000112-HGNC_29298-OMIM_604321-HP_0000007-GENCC_100001"	"HGNC:29298"	"CEP152"	"MONDO:0011437"	"microcephaly 4, primary, autosomal recessive"	"OMIM:604321"	"OMIM:604321"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29298"	"CEP152"	"OMIM:604321"	"CEP152-related Developmental Disorder"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21131973"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113973"	"2023-09-11"
"GENCC_000112-HGNC_3054-OMIM_605594-HP_0000006-GENCC_100001"	"HGNC:3054"	"DSPP"	"MONDO:0011571"	"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	"OMIM:605594"	"OMIM:605594"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3054"	"DSPP"	"OMIM:605594"	"DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11175790"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113974"	"2023-09-11"
"GENCC_000112-HGNC_2025-OMIM_611490-HP_0000007-GENCC_100001"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"OMIM:611490"	"OMIM:611490"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2025"	"CLCN7"	"OMIM:611490"	"CLCN7-RELATED OSTEOPETROSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11741829,11207362,17033731"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113975"	"2023-09-11"
"GENCC_000112-HGNC_26901-OMIM_614944-HP_0000007-GENCC_100001"	"HGNC:26901"	"OTOGL"	"MONDO:0013984"	"autosomal recessive nonsyndromic hearing loss 84B"	"OMIM:614944"	"OMIM:614944"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26901"	"OTOGL"	"OMIM:614944"	"MODERATE SENSORINEURAL HEARING LOSS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23122586"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113976"	"2023-09-11"
"GENCC_000112-HGNC_29203-OMIM_614617-HP_0000007-GENCC_100001"	"HGNC:29203"	"TBC1D24"	"MONDO:0013826"	"autosomal recessive nonsyndromic hearing loss 86"	"OMIM:614617"	"OMIM:614617"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29203"	"TBC1D24"	"OMIM:614617"	"NON SYNDROMAL HEARING LOSS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:37"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"554"	"2020-11-25"
"GENCC_000112-HGNC_6408-OMIM_166300-HP_0000006-GENCC_100001"	"HGNC:6408"	"MAFB"	"MONDO:0008152"	"multicentric carpo-tarsal osteolysis with or without nephropathy"	"OMIM:166300"	"OMIM:166300"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6408"	"MAFB"	"OMIM:166300"	"MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22387013"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113978"	"2023-09-11"
"GENCC_000112-HGNC_26784-OMIM_613559-HP_0000007-GENCC_100001"	"HGNC:26784"	"MTRFR"	"MONDO:0013306"	"combined oxidative phosphorylation defect type 7"	"OMIM:613559"	"OMIM:613559"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26784"	"MTRFR"	"OMIM:613559"	"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24284555,24198383,23188110,24080142,20598281,27858754,24424123,26380172"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113979"	"2023-09-11"
"GENCC_000112-HGNC_9016-OMIM_263200-HP_0000007-GENCC_100001"	"HGNC:9016"	"PKHD1"	"MONDO:0033004"	"polycystic kidney disease 4"	"OMIM:263200"	"OMIM:263200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9016"	"PKHD1"	"OMIM:263200"	"POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11919560,19021639,12506140"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113980"	"2023-09-11"
"GENCC_000112-HGNC_2714-OMIM_300067-HP_0001423-GENCC_100001"	"HGNC:2714"	"DCX"	"MONDO:0010239"	"lissencephaly type 1 due to doublecortin gene mutation"	"OMIM:300067"	"OMIM:300067"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:2714"	"DCX"	"OMIM:300067"	"SUBCORTICAL BAND HETEROTOPIA X-LINKED"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:37"	""	""	"11468322, 9489699, 10441340, 12552055, 9489700"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"558"	"2020-11-25"
"GENCC_000112-HGNC_24725-OMIM_127000-HP_0000006-GENCC_100001"	"HGNC:24725"	"FAM111A"	"MONDO:0007478"	"autosomal dominant Kenny-Caffey syndrome"	"OMIM:127000"	"OMIM:127000"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24725"	"FAM111A"	"OMIM:127000"	"KENNY-CAFFEY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23684011"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113982"	"2023-09-11"
"GENCC_000112-HGNC_7216-OMIM_612379-HP_0000007-GENCC_100001"	"HGNC:7216"	"MPI"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7216"	"MPI"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9525984,3080572,9585601"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113983"	"2023-09-11"
"GENCC_000112-HGNC_6937-OMIM_210210-HP_0000007-GENCC_100001"	"HGNC:6937"	"MCCC2"	"MONDO:0008862"	"3-methylcrotonyl-CoA carboxylase 2 deficiency"	"OMIM:210210"	"OMIM:210210"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6937"	"MCCC2"	"OMIM:210210"	"3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113985"	"2023-09-11"
"GENCC_000112-HGNC_8806-OMIM_312170-HP_0001419-GENCC_100001"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"OMIM:312170"	"OMIM:312170"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8806"	"PDHA1"	"OMIM:312170"	"INTELLECTUAL DISABILTIY"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:15:35"	""	""	"9686362, 1909778, 10486093, 8199595, 1293379, 2378353, 8771169, 2537010, 3137520, 8032855, 12379317, 1907799, 7573035, 1909401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1623"	"2020-11-25"
"GENCC_000112-HGNC_3688-OMIM_147950-HP_0000006-GENCC_100001"	"HGNC:3688"	"FGFR1"	"MONDO:0007844"	"hypogonadotropic hypogonadism 2 with or without anosmia"	"OMIM:147950"	"OMIM:147950"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3688"	"FGFR1"	"OMIM:147950"	"Hypogonadotropic hypogonadism 2 with or without anosmia"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16606836,18596921,16882753,10690855,23643382,17235395,16418210,17360555,12627230"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114329"	"2023-09-11"
"GENCC_000112-HGNC_2383-OMIM_613829-HP_0000006-GENCC_100001"	"HGNC:2383"	"CRX"	"MONDO:0013449"	"Leber congenital amaurosis 7"	"OMIM:613829"	"OMIM:613829"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2383"	"CRX"	"OMIM:613829"	"CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9931337,9390563,9792858,17320181,9537410,25270190,9427255,12208271,15531334"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113986"	"2023-09-11"
"GENCC_000112-HGNC_2388-OMIM_604219-HP_0000007-GENCC_100001"	"HGNC:2388"	"CRYAA"	"MONDO:0011413"	"cataract 9 multiple types"	"OMIM:604219"	"OMIM:604219"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2388"	"CRYAA"	"OMIM:604219"	"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11006246"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113987"	"2023-09-11"
"GENCC_000112-HGNC_17494-OMIM_613480-HP_0000006-GENCC_100003"	"HGNC:17494"	"GJC2"	"MONDO:0013278"	"lymphatic malformation 3"	"OMIM:613480"	"OMIM:613480"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17494"	"GJC2"	"OMIM:613480"	"LYMPHEDEMA, HEREDITARY, IC"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	""	"2015-07-22 00:00:00"	""	""	"20537300"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113988"	"2023-09-11"
"GENCC_000112-HGNC_8009-OMIM_209850-HP_0000006-GENCC_100002"	"HGNC:8009"	"NRXN2"	"MONDO:0005260"	"autism"	"OMIM:209850"	"OMIM:209850"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8009"	"NRXN2"	"OMIM:209850"	"AUTISM"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113989"	"2023-09-11"
"GENCC_000112-HGNC_9115-OMIM_612379-HP_0000007-GENCC_100001"	"HGNC:9115"	"PMM2"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9115"	"PMM2"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11916319,17307006,9781039,9887379,9497260,10801058,10922383,21937992,10602363,10527672,19235233,9140401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113991"	"2023-09-11"
"GENCC_000112-HGNC_11190-OMIM_609136-HP_0000006-GENCC_100001"	"HGNC:11190"	"SOX10"	"MONDO:0012198"	"PCWH syndrome"	"OMIM:609136"	"OMIM:609136"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11190"	"SOX10"	"OMIM:609136"	"PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12447940,11026454,19764030,10482261,10762540"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113992"	"2023-09-11"
"GENCC_000112-HGNC_12563-OMIM_258900-HP_0000007-GENCC_100001"	"HGNC:12563"	"UMPS"	"MONDO:0009797"	"orotic aciduria"	"OMIM:258900"	"OMIM:258900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12563"	"UMPS"	"OMIM:258900"	"OROTIC ACIDURIA TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9042911"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113993"	"2023-09-11"
"GENCC_000112-HGNC_1975-OMIM_610093-HP_0000007-GENCC_100001"	"HGNC:1975"	"VSX2"	"MONDO:0012409"	"isolated microphthalmia 2"	"OMIM:610093"	"OMIM:610093"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1975"	"VSX2"	"OMIM:610093"	"MICROPHTHALMIA ISOLATED TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113994"	"2023-09-11"
"GENCC_000112-HGNC_9713-OMIM_214100-HP_0000007-GENCC_100001"	"HGNC:9713"	"PEX19"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"OMIM:214100"	"OMIM:214100"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9713"	"PEX19"	"OMIM:214100"	"ZELLWEGER SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113995"	"2023-09-11"
"GENCC_000112-HGNC_11030-OMIM_604278-HP_0000007-GENCC_100001"	"HGNC:11030"	"SLC4A4"	"MONDO:0011422"	"autosomal recessive proximal renal tubular acidosis"	"OMIM:604278"	"OMIM:604278"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11030"	"SLC4A4"	"OMIM:604278"	"PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10545938,11274232"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113996"	"2023-09-11"
"GENCC_000112-HGNC_3806-OMIM_241850-HP_0000007-GENCC_100001"	"HGNC:3806"	"FOXE1"	"MONDO:0009437"	"Bamforth-Lazarus syndrome"	"OMIM:241850"	"OMIM:241850"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3806"	"FOXE1"	"OMIM:241850"	"BAMFORTH-LAZARUS SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113997"	"2023-09-11"
"GENCC_000112-HGNC_8549-OMIM_614171-HP_0000007-GENCC_100002"	"HGNC:8549"	"BLOC1S6"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"OMIM:614171"	"OMIM:614171"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8549"	"BLOC1S6"	"OMIM:614171"	"HERMANSKY-PUDLAK SYNDROME 9"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22461475,21665000"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113998"	"2023-09-11"
"GENCC_000112-HGNC_3048-OMIM_615508-HP_0000007-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"OMIM:615508"	"OMIM:615508"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3048"	"DSG1"	"OMIM:615508"	"SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23974871"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114000"	"2023-09-11"
"GENCC_000112-HGNC_13210-OMIM_613575-HP_0000007-GENCC_100001"	"HGNC:13210"	"ARL6"	"MONDO:0013312"	"retinitis pigmentosa 55"	"OMIM:613575"	"OMIM:613575"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13210"	"ARL6"	"OMIM:613575"	"RETINITIS PIGMENTOSA TYPE 55"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19956407"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114001"	"2023-09-11"
"GENCC_000112-HGNC_11273-OMIM_613477-HP_0000006-GENCC_100001"	"HGNC:11273"	"SPTAN1"	"MONDO:0013277"	"developmental and epileptic encephalopathy, 5"	"OMIM:613477"	"OMIM:613477"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11273"	"SPTAN1"	"OMIM:613477"	"SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"34590414,36331550,29050398,22258530,20493457"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114002"	"2023-09-11"
"GENCC_000112-HGNC_42-OMIM_601847-HP_0000007-GENCC_100001"	"HGNC:42"	"ABCB11"	"MONDO:0011156"	"progressive familial intrahepatic cholestasis type 2"	"OMIM:601847"	"OMIM:601847"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:42"	"ABCB11"	"OMIM:601847"	"ABCB11-RELATED INTRAHEPATIC CHOLESTASIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10579978,9806540,16039748"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114003"	"2023-09-11"
"GENCC_000112-HGNC_28887-OMIM_166700-HP_0000006-GENCC_100001"	"HGNC:28887"	"LEMD3"	"MONDO:0008157"	"Buschke-Ollendorff syndrome"	"OMIM:166700"	"OMIM:166700"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:28887"	"LEMD3"	"OMIM:166700"	"BUSCHKE-OLLENDORFF SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9295073,17223882,12749062,15489854,19438932"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114006"	"2023-09-11"
"GENCC_000112-HGNC_24682-OMIM_609033-HP_0000007-GENCC_100001"	"HGNC:24682"	"FLVCR1"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"OMIM:609033"	"OMIM:609033"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24682"	"FLVCR1"	"OMIM:609033"	"ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21267618,30656474,9409377,21070897"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114007"	"2023-09-11"
"GENCC_000112-HGNC_2200-OMIM_151210-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007895"	"platyspondylic dysplasia, Torrance type"	"OMIM:151210"	"OMIM:151210"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2200"	"COL2A1"	"OMIM:151210"	"PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:40"	""	""	"14729840"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"587"	"2020-11-25"
"GENCC_000112-HGNC_25018-OMIM_608091-HP_0000007-GENCC_100002"	"HGNC:25018"	"TMEM216"	"MONDO:0011963"	"Joubert syndrome 2"	"OMIM:608091"	"OMIM:608091"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25018"	"TMEM216"	"OMIM:608091"	"JOUBERT SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"20036350,20512146"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114008"	"2023-09-11"
"GENCC_000112-HGNC_11796-OMIM_614450-HP_0000006-GENCC_100001"	"HGNC:11796"	"THRA"	"MONDO:0013757"	"congenital nongoitrous hypothryoidism 6"	"OMIM:614450"	"OMIM:614450"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11796"	"THRA"	"OMIM:614450"	"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22168587,22494134"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114009"	"2023-09-11"
"GENCC_000112-HGNC_2027-OMIM_613090-HP_0000007-GENCC_100002"	"HGNC:2027"	"CLCNKB"	"MONDO:0000909"	"Bartter disease type 4B"	"OMIM:613090"	"OMIM:613090"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2027"	"CLCNKB"	"OMIM:613090"	"BARTTER SYNDROME TYPE 4B"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"18310267,15044642"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114010"	"2023-09-11"
"GENCC_000112-HGNC_1041-OMIM_611597-HP_0000006-GENCC_100001"	"HGNC:1041"	"BFSP2"	"MONDO:0012701"	"cataract 12 multiple types"	"OMIM:611597"	"OMIM:611597"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1041"	"BFSP2"	"OMIM:611597"	"CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10634598,10729115"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114011"	"2023-09-11"
"GENCC_000112-HGNC_18127-OMIM_251270-HP_0000007-GENCC_100001"	"HGNC:18127"	"TUBGCP6"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"OMIM:251270"	"OMIM:251270"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18127"	"TUBGCP6"	"OMIM:251270"	"MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22279524"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114012"	"2023-09-11"
"GENCC_000112-HGNC_3754-OMIM_304120-HP_0001419-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010571"	"otopalatodigital syndrome type 2"	"OMIM:304120"	"OMIM:304120"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:304120"	"OTOPALATODIGITAL SYNDROME TYPE 2"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:41"	""	""	"12612583, 17431908"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"594"	"2020-11-25"
"GENCC_000112-HGNC_8079-OMIM_310700-HP_0001419-GENCC_100004"	"HGNC:8079"	"FRMD7"	"MONDO:0010693"	"nystagmus 1, congenital, X-linked"	"OMIM:310700"	"OMIM:310700"	"GENCC:100004"	"Limited"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:8079"	"FRMD7"	"OMIM:310700"	"NYSTAGMUS 1, CONGENITAL, X-LINKED"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:41"	""	""	"16240070, 19072571, 17962394, 17013395, 21746984, 18087240"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"596"	"2020-11-25"
"GENCC_000112-HGNC_2197-OMIM_130060-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"OMIM:130060"	"OMIM:130060"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2197"	"COL1A1"	"OMIM:130060"	"EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-09-01 00:00:00"	""	""	"9295084,3082886,18409203"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000112411"	"2023-09-11"
"GENCC_000112-HGNC_4341-OMIM_610015-HP_0000007-GENCC_100001"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"OMIM:610015"	"OMIM:610015"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4341"	"GLUL"	"OMIM:610015"	"CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21353613,16267323"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114016"	"2023-09-11"
"GENCC_000112-HGNC_8490-OMIM_613800-HP_0000007-GENCC_100001"	"HGNC:8490"	"ORC4"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"OMIM:613800"	"OMIM:613800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8490"	"ORC4"	"OMIM:613800"	"MEIER-GORLIN SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11477602"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114017"	"2023-09-11"
"GENCC_000112-HGNC_17213-OMIM_265050-HP_0000007-GENCC_100001"	"HGNC:17213"	"COLEC11"	"MONDO:0009927"	"3MC syndrome 2"	"OMIM:265050"	"OMIM:265050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17213"	"COLEC11"	"OMIM:265050"	"3MC SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"2569826,21258343,8933348"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114018"	"2023-09-11"
"GENCC_000112-HGNC_12873-OMIM_609637-HP_0000006-GENCC_100001"	"HGNC:12873"	"ZIC2"	"MONDO:0012322"	"holoprosencephaly 5"	"OMIM:609637"	"OMIM:609637"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12873"	"ZIC2"	"OMIM:609637"	"HOLOPROSENCEPHALY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9771712,11479728,21638761"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114020"	"2023-09-11"
"GENCC_000112-HGNC_29203-OMIM_605021-HP_0000007-GENCC_100001"	"HGNC:29203"	"TBC1D24"	"MONDO:0011506"	"familial infantile myoclonic epilepsy"	"OMIM:605021"	"OMIM:605021"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29203"	"TBC1D24"	"OMIM:605021"	"MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20797691,20727515,10741954"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114023"	"2023-09-11"
"GENCC_000112-HGNC_19957-OMIM_615031-HP_0000007-GENCC_100002"	"HGNC:19957"	"TECPR2"	"MONDO:0014016"	"hereditary spastic paraplegia 49"	"OMIM:615031"	"OMIM:615031"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19957"	"TECPR2"	"OMIM:615031"	"HEREDITARY SPASTIC PARAPARESIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23176824"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114026"	"2023-09-11"
"GENCC_000112-HGNC_10257-OMIM_113000-HP_0000006-GENCC_100001"	"HGNC:10257"	"ROR2"	"MONDO:0007220"	"brachydactyly type B1"	"OMIM:113000"	"OMIM:113000"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10257"	"ROR2"	"OMIM:113000"	"BRACHYDACTYLY, TYPE B1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10986040,19461659,10700182,19533773"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114027"	"2023-09-11"
"GENCC_000112-HGNC_7758-OMIM_256550-HP_0000007-GENCC_100001"	"HGNC:7758"	"NEU1"	"MONDO:0009738"	"sialidosis type 2"	"OMIM:256550"	"OMIM:256550"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7758"	"NEU1"	"OMIM:256550"	"SIALIDOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11829139,10767332,11470272,9054950,8985184,11702224,10944856,14695530"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114028"	"2023-09-11"
"GENCC_000112-HGNC_9751-OMIM_615760-HP_0000007-GENCC_100002"	"HGNC:9751"	"QARS1"	"MONDO:0014335"	"diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	"OMIM:615760"	"OMIM:615760"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9751"	"QARS1"	"OMIM:615760"	"MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24656866"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114029"	"2023-09-11"
"GENCC_000112-HGNC_2197-OMIM_114000-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"OMIM:114000"	"OMIM:114000"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2197"	"COL1A1"	"OMIM:114000"	"CAFFEY DISEASE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"34272483,15864348"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114030"	"2023-09-11"
"GENCC_000112-HGNC_1762-OMIM_225280-HP_0000007-GENCC_100001"	"HGNC:1762"	"CDH3"	"MONDO:0009155"	"EEM syndrome"	"OMIM:225280"	"OMIM:225280"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1762"	"CDH3"	"OMIM:225280"	"EEM SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22140374,12445216,11544476,15805154"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114031"	"2023-09-11"
"GENCC_000112-HGNC_8617-OMIM_193500-HP_0000006-GENCC_100001"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"OMIM:193500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"WAARDENBURG SYNDROME, TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1887852,14556253,8664898,20478267,1347148,7726174,1303193,8490648,1308353,8447316"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114032"	"2023-09-11"
"GENCC_000112-HGNC_11825-OMIM_118700-HP_0000006-GENCC_100001"	"HGNC:11825"	"NKX2-1"	"MONDO:0021011"	"hereditary progressive chorea without dementia"	"OMIM:118700"	"OMIM:118700"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11825"	"NKX2-1"	"OMIM:118700"	"BENIGN HEREDITARY CHOREA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:42"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"615"	"2020-11-25"
"GENCC_000112-HGNC_9251-OMIM_256540-HP_0000007-GENCC_100001"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"OMIM:256540"	"OMIM:256540"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9251"	"CTSA"	"OMIM:256540"	"GALACTOSIALIDOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8514852,1756715,9603439,10944848,8968752"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114034"	"2023-09-11"
"GENCC_000112-HGNC_24154-OMIM_608022-HP_0000007-GENCC_100001"	"HGNC:24154"	"BMPER"	"MONDO:0011946"	"diaphanospondylodysostosis"	"OMIM:608022"	"OMIM:608022"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24154"	"BMPER"	"OMIM:608022"	"DIAPHANOSPONDYLODYSOSTOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20869035"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114036"	"2023-09-11"
"GENCC_000112-HGNC_4274-OMIM_241550-HP_0000006-GENCC_100001"	"HGNC:4274"	"GJA1"	"MONDO:0009433"	"hypoplastic left heart syndrome 1"	"OMIM:241550"	"OMIM:241550"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4274"	"GJA1"	"OMIM:241550"	"HYPOPLASTIC LEFT HEART SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11470490"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114037"	"2023-09-11"
"GENCC_000112-HGNC_16266-OMIM_607483-HP_0000007-GENCC_100001"	"HGNC:16266"	"SLC19A3"	"MONDO:0011841"	"biotin-responsive basal ganglia disease"	"OMIM:607483"	"OMIM:607483"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16266"	"SLC19A3"	"OMIM:607483"	"THIAMINE METABOLISM DYSFUNCTION SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19387023,15871139,20065143"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114038"	"2023-09-11"
"GENCC_000112-HGNC_16700-OMIM_610187-HP_0000006-GENCC_100004"	"HGNC:16700"	"ZFPM2"	"MONDO:0012431"	"diaphragmatic hernia 3"	"OMIM:610187"	"OMIM:610187"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16700"	"ZFPM2"	"OMIM:610187"	"DIAPHRAGMATIC HERNIA 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"16103912"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114039"	"2023-09-11"
"GENCC_000112-HGNC_18122-OMIM_613674-HP_0000006-GENCC_100001"	"HGNC:18122"	"SOX17"	"MONDO:0013356"	"vesicoureteral reflux 3"	"OMIM:613674"	"OMIM:613674"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18122"	"SOX17"	"OMIM:613674"	"VESICOURETERAL REFLUX TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20960469"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114040"	"2023-09-11"
"GENCC_000112-HGNC_4586-OMIM_613970-HP_0000006-GENCC_100001"	"HGNC:4586"	"GRIN2B"	"MONDO:0013509"	"intellectual disability, autosomal dominant 6"	"OMIM:613970"	"OMIM:613970"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4586"	"GRIN2B"	"OMIM:613970"	"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23160955,20890276,23718928,23033978"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114041"	"2023-09-11"
"GENCC_000112-HGNC_21869-OMIM_212350-HP_0000007-GENCC_100001"	"HGNC:21869"	"AGK"	"MONDO:0008922"	"Sengers syndrome"	"OMIM:212350"	"OMIM:212350"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21869"	"AGK"	"OMIM:212350"	"SENGERS SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"3560758,15168109,22277967,22415731,22284826,23266196,25208612,26622071"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114042"	"2023-09-11"
"GENCC_000112-HGNC_2389-OMIM_613869-HP_0000007-GENCC_100004"	"HGNC:2389"	"CRYAB"	"MONDO:0013472"	"fatal infantile hypertonic myofibrillar myopathy"	"OMIM:613869"	"OMIM:613869"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2389"	"CRYAB"	"OMIM:613869"	"MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"21337604"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114043"	"2023-09-11"
"GENCC_000112-HGNC_685-OMIM_300436-HP_0001419-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0010326"	"intellectual disability, X-linked 46"	"OMIM:300436"	"OMIM:300436"	"GENCC:100004"	"Limited"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:685"	"ARHGEF6"	"OMIM:300436"	"MENTAL RETARDATION X-LINKED TYPE 46"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:42"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"627"	"2020-11-25"
"GENCC_000112-HGNC_13221-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:13221"	"BCL11A"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13221"	"BCL11A"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25533962,27453576,35856171"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114045"	"2023-09-11"
"GENCC_000112-HGNC_4392-OMIM_603233-HP_0012274-GENCC_100001"	"HGNC:4392"	"GNAS"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"OMIM:603233"	"OMIM:603233"	"GENCC:100001"	"Definitive"	"HP:0012274"	"Autosomal dominant inheritance with paternal imprinting"	"GENCC:000112"	"G2P"	"HGNC:4392"	"GNAS"	"OMIM:603233"	"PSEUDOHYPOPARATHYROIDISM TYPE 1B"	"HP:0012274"	"Autosomal dominant inheritance with paternal imprinting"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:42"	""	""	"11029463, 15592469, 18182455"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"629"	"2020-11-25"
"GENCC_000112-HGNC_4422-OMIM_252940-HP_0000007-GENCC_100001"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"OMIM:252940"	"OMIM:252940"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4422"	"GNS"	"OMIM:252940"	"MUCOPOLYSACCHARIDOSIS TYPE 3D"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12624138,19650410,17998446,6450420,3100754"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114047"	"2023-09-11"
"GENCC_000112-HGNC_3800-OMIM_604229-HP_0000006-GENCC_100001"	"HGNC:3800"	"FOXC1"	"MONDO:0011414"	"Peters anomaly"	"OMIM:604229"	"OMIM:604229"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3800"	"FOXC1"	"OMIM:604229"	"PETERS ANOMALY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:42"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"632"	"2020-11-25"
"GENCC_000112-HGNC_12799-OMIM_616211-HP_0000007-GENCC_100002"	"HGNC:12799"	"WWOX"	"MONDO:0014533"	"developmental and epileptic encephalopathy, 28"	"OMIM:616211"	"OMIM:616211"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12799"	"WWOX"	"OMIM:616211"	"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24456803"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114049"	"2023-09-11"
"GENCC_000112-HGNC_18060-OMIM_309510-HP_0001419-GENCC_100001"	"HGNC:18060"	"ARX"	"MONDO:0010654"	"Partington syndrome"	"OMIM:309510"	"OMIM:309510"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:18060"	"ARX"	"OMIM:309510"	"PARTINGTON SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:42"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"634"	"2020-11-25"
"GENCC_000112-HGNC_2397-OMIM_611544-HP_0000006-GENCC_100001"	"HGNC:2397"	"CRYBB1"	"MONDO:0012688"	"cataract 17 multiple types"	"OMIM:611544"	"OMIM:611544"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2397"	"CRYBB1"	"OMIM:611544"	"CATARACT 17, MULTIPLE TYPES, MONOALLELIC"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12360425"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114051"	"2023-09-11"
"GENCC_000112-HGNC_11055-OMIM_300352-HP_0001419-GENCC_100001"	"HGNC:11055"	"SLC6A8"	"MONDO:0010305"	"creatine transporter deficiency"	"OMIM:300352"	"OMIM:300352"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11055"	"SLC6A8"	"OMIM:300352"	"X-LINKED CREATINE DEFICIENCY SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:42"	""	""	"12210795, 15154114, 16738945, 11898126, 16086185, 17101918, 11326334"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"636"	"2020-11-25"
"GENCC_000112-HGNC_7428-OMIM_616579-HP_0000006-GENCC_100004"	"HGNC:7428"	"MTF1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7428"	"MTF1"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114053"	"2023-09-11"
"GENCC_000112-HGNC_408-OMIM_271980-HP_0000007-GENCC_100001"	"HGNC:408"	"ALDH5A1"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"OMIM:271980"	"OMIM:271980"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:408"	"ALDH5A1"	"OMIM:271980"	"SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14635103,9683595,16542398"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114055"	"2023-09-11"
"GENCC_000112-HGNC_9202-OMIM_236670-HP_0000007-GENCC_100001"	"HGNC:9202"	"POMT1"	"MONDO:0009364"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"	"OMIM:236670"	"OMIM:236670"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9202"	"POMT1"	"OMIM:236670"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12369018,14678799,17878207,31311558,11053679,11320179,19299310,15037715,16717220,22549409"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114057"	"2023-09-11"
"GENCC_000112-HGNC_8010-OMIM_209850-HP_0000006-GENCC_100004"	"HGNC:8010"	"NRXN3"	"MONDO:0005260"	"autism"	"OMIM:209850"	"OMIM:209850"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8010"	"NRXN3"	"OMIM:209850"	"AUTISM"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"22209245"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114058"	"2023-09-11"
"GENCC_000112-HGNC_9607-OMIM_613382-HP_0000006-GENCC_100001"	"HGNC:9607"	"PTHLH"	"MONDO:0013244"	"brachydactyly type E2"	"OMIM:613382"	"OMIM:613382"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9607"	"PTHLH"	"OMIM:613382"	"BRACHYDACTYLY, TYPE E2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20170896"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114059"	"2023-09-11"
"GENCC_000112-HGNC_27232-OMIM_614500-HP_0000007-GENCC_100001"	"HGNC:27232"	"CFAP418"	"MONDO:0013786"	"cone-rod dystrophy 16"	"OMIM:614500"	"OMIM:614500"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:27232"	"CFAP418"	"OMIM:614500"	"CONE-ROD DYSTROPHY 16"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25113443,25802487,26854863,26865426,27008867,22177090"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114060"	"2023-09-11"
"GENCC_000112-HGNC_1527-OMIM_612526-HP_0000007-GENCC_100004"	"HGNC:1527"	"CAV1"	"MONDO:0012923"	"congenital generalized lipodystrophy type 3"	"OMIM:612526"	"OMIM:612526"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1527"	"CAV1"	"OMIM:612526"	"CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114061"	"2023-09-11"
"GENCC_000112-HGNC_20859-OMIM_601668-HP_0000007-GENCC_100001"	"HGNC:20859"	"SLC39A13"	"MONDO:0011124"	"spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"	"OMIM:601668"	"OMIM:601668"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20859"	"SLC39A13"	"OMIM:601668"	"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114062"	"2023-09-11"
"GENCC_000112-HGNC_25815-OMIM_614728-HP_0000007-GENCC_100002"	"HGNC:25815"	"CEP63"	"MONDO:0013871"	"Seckel syndrome 6"	"OMIM:614728"	"OMIM:614728"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25815"	"CEP63"	"OMIM:614728"	"SECKEL SYNDROME 6"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21983783"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114063"	"2023-09-11"
"GENCC_000112-HGNC_28929-OMIM_613981-HP_0000006-GENCC_100002"	"HGNC:28929"	"KRT74"	"MONDO:0013514"	"hypotrichosis 3"	"OMIM:613981"	"OMIM:613981"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:28929"	"KRT74"	"OMIM:613981"	"HYPOTRICHOSIS SIMPLEX OF THE SCALP 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21188418"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114065"	"2023-09-11"
"GENCC_000112-HGNC_930-OMIM_130070-HP_0000007-GENCC_100001"	"HGNC:930"	"B4GALT7"	"MONDO:0020682"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"OMIM:130070"	"OMIM:130070"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:930"	"B4GALT7"	"OMIM:130070"	"EHLERS-DANLOS SYNDROME PROGEROID TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15211654,3631078"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114066"	"2023-09-11"
"GENCC_000112-HGNC_2861-OMIM_613839-HP_0000007-GENCC_100001"	"HGNC:2861"	"DHFR"	"MONDO:0013456"	"constitutional megaloblastic anemia with severe neurologic disease"	"OMIM:613839"	"OMIM:613839"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2861"	"DHFR"	"OMIM:613839"	"MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21310277,21310276"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114069"	"2023-09-11"
"GENCC_000112-HGNC_4816-OMIM_614504-HP_0000007-GENCC_100004"	"HGNC:4816"	"HARS1"	"MONDO:0013788"	"Usher syndrome type 3B"	"OMIM:614504"	"OMIM:614504"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4816"	"HARS1"	"OMIM:614504"	"USHER SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"22279524"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114070"	"2023-09-11"
"GENCC_000112-HGNC_1373-OMIM_259730-HP_0000007-GENCC_100001"	"HGNC:1373"	"CA2"	"MONDO:0009818"	"autosomal recessive osteopetrosis 3"	"OMIM:259730"	"OMIM:259730"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1373"	"CA2"	"OMIM:259730"	"OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12566520,1301935,8127074,5041390"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114071"	"2023-09-11"
"GENCC_000112-HGNC_4208-OMIM_605899-HP_0000007-GENCC_100002"	"HGNC:4208"	"GCSH"	"MONDO:0011612"	"glycine encephalopathy"	"OMIM:605899"	"OMIM:605899"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4208"	"GCSH"	"OMIM:605899"	"GLYCINE ENCEPHALOPATHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"36190515"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114072"	"2023-09-11"
"GENCC_000112-HGNC_1974-OMIM_613630-HP_0000007-GENCC_100001"	"HGNC:1974"	"CHUK"	"MONDO:0013334"	"cocoon syndrome"	"OMIM:613630"	"OMIM:613630"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1974"	"CHUK"	"OMIM:613630"	"COCOON SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20961246"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114073"	"2023-09-11"
"GENCC_000112-HGNC_5227-OMIM_116800-HP_0000006-GENCC_100001"	"HGNC:5227"	"HSF4"	"MONDO:0007290"	"cataract 5 multiple types"	"OMIM:116800"	"OMIM:116800"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5227"	"HSF4"	"OMIM:116800"	"CATARACT 5, MULTIPLE TYPES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"29243736,12089525,16876512,24637349"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114074"	"2023-09-11"
"GENCC_000112-HGNC_9817-OMIM_614508-HP_0000006-GENCC_100004"	"HGNC:9817"	"RAD51"	"MONDO:0013790"	"mirror movements 2"	"OMIM:614508"	"OMIM:614508"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9817"	"RAD51"	"OMIM:614508"	"MIRROR MOVEMENTS 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"21242494"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114075"	"2023-09-11"
"GENCC_000112-HGNC_3689-OMIM_149730-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0100302"	"LADD syndrome 1"	"OMIM:149730"	"OMIM:149730"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3689"	"FGFR2"	"OMIM:149730"	"LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114076"	"2023-09-11"
"GENCC_000112-HGNC_3688-OMIM_101600-HP_0000006-GENCC_100001"	"HGNC:3688"	"FGFR1"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"OMIM:101600"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3688"	"FGFR1"	"OMIM:101600"	"PFEIFFER SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10945669,9586546,7719345,9002682,8841188,8434615,10394936,15523615,7874169,11807866,9150725"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114077"	"2023-09-11"
"GENCC_000112-HGNC_4115-OMIM_245200-HP_0000007-GENCC_100001"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"OMIM:245200"	"OMIM:245200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4115"	"GALC"	"OMIM:245200"	"KRABBE DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8786069,8297359,20886637,21070211"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114078"	"2023-09-11"
"GENCC_000112-HGNC_25671-OMIM_610181-HP_0000007-GENCC_100001"	"HGNC:25671"	"RNASEH2B"	"MONDO:0012429"	"Aicardi-Goutieres syndrome 2"	"OMIM:610181"	"OMIM:610181"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25671"	"RNASEH2B"	"OMIM:610181"	"AICARDI-GOUTIERES SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16845400"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114079"	"2023-09-11"
"GENCC_000112-HGNC_119-OMIM_264470-HP_0000007-GENCC_100001"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"OMIM:264470"	"OMIM:264470"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:119"	"ACOX1"	"OMIM:264470"	"ADRENOLEUKODYSTROPHY PSEUDONEONATAL"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"2894756,11815777,18536048,8279468,17458872"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114080"	"2023-09-11"
"GENCC_000112-HGNC_1754-OMIM_612580-HP_0000006-GENCC_100004"	"HGNC:1754"	"CDH15"	"MONDO:0012946"	"intellectual disability, autosomal dominant 3"	"OMIM:612580"	"OMIM:612580"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1754"	"CDH15"	"OMIM:612580"	"INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"26506440,19012874"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114082"	"2023-09-11"
"GENCC_000112-HGNC_23564-OMIM_614326-HP_0000006-GENCC_100002"	"HGNC:23564"	"MIR17HG"	"MONDO:0013691"	"Feingold syndrome type 2"	"OMIM:614326"	"OMIM:614326"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23564"	"MIR17HG"	"OMIM:614326"	"FEINGOLD SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21892160"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114083"	"2023-09-11"
"GENCC_000112-HGNC_2859-OMIM_602398-HP_0000007-GENCC_100001"	"HGNC:2859"	"DHCR24"	"MONDO:0011217"	"desmosterolosis"	"OMIM:602398"	"OMIM:602398"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2859"	"DHCR24"	"OMIM:602398"	"DESMOSTEROLOSIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114084"	"2023-09-11"
"GENCC_000112-HGNC_12930-OMIM_612447-HP_0000007-GENCC_100004"	"HGNC:12930"	"ZBTB16"	"MONDO:0012909"	"skeletal defects, genital hypoplasia, and intellectual disability"	"OMIM:612447"	"OMIM:612447"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12930"	"ZBTB16"	"OMIM:612447"	"SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114085"	"2023-09-11"
"GENCC_000112-HGNC_4235-OMIM_203450-HP_0000006-GENCC_100001"	"HGNC:4235"	"GFAP"	"MONDO:0008752"	"Alexander disease"	"OMIM:203450"	"OMIM:203450"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4235"	"GFAP"	"OMIM:203450"	"ALEXANDER DISEASE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12975300,11567214,12447932,12034796,11138011,14557587"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114086"	"2023-09-11"
"GENCC_000112-HGNC_6840-OMIM_115150-HP_0000006-GENCC_100001"	"HGNC:6840"	"MAP2K1"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"OMIM:115150"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6840"	"MAP2K1"	"OMIM:115150"	"CARDIOFACIOCUTANEOUS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114088"	"2023-09-11"
"GENCC_000112-HGNC_6470-OMIM_304100-HP_0001419-GENCC_100001"	"HGNC:6470"	"L1CAM"	"MONDO:0010569"	"X-linked complicated corpus callosum dysgenesis"	"OMIM:304100"	"OMIM:304100"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:6470"	"L1CAM"	"OMIM:304100"	"PARTIAL AGENESIS OF THE CORPUS CALLOSUM"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:44"	""	""	"26916325"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"673"	"2020-11-25"
"GENCC_000112-HGNC_19954-OMIM_609304-HP_0000007-GENCC_100002"	"HGNC:19954"	"SLC25A22"	"MONDO:0012245"	"developmental and epileptic encephalopathy, 3"	"OMIM:609304"	"OMIM:609304"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19954"	"SLC25A22"	"OMIM:609304"	"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114089"	"2023-09-11"
"GENCC_000112-HGNC_8008-OMIM_209850-HP_0000006-GENCC_100003"	"HGNC:8008"	"NRXN1"	"MONDO:0005260"	"autism"	"OMIM:209850"	"OMIM:209850"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8008"	"NRXN1"	"OMIM:209850"	"AUTISM"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	""	"2015-07-22 00:00:00"	""	""	"28289584,30873608,27195815,23495017,22405623,30031152"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114090"	"2023-09-11"
"GENCC_000112-HGNC_6188-OMIM_118450-HP_0000006-GENCC_100001"	"HGNC:6188"	"JAG1"	"MONDO:0016862"	"Alagille syndrome due to a JAG1 point mutation"	"OMIM:118450"	"OMIM:118450"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6188"	"JAG1"	"OMIM:118450"	"ALAGILLE SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"35761784"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114091"	"2023-09-11"
"GENCC_000112-HGNC_11199-OMIM_300833-HP_0001423-GENCC_100001"	"HGNC:11199"	"SOX3"	"MONDO:0010442"	"46,XX sex reversal 3"	"OMIM:300833"	"OMIM:300833"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:11199"	"SOX3"	"OMIM:300833"	"SEX REVERSAL TYPE 3"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:44"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"677"	"2020-11-25"
"GENCC_000112-HGNC_19869-OMIM_600920-HP_0000007-GENCC_100001"	"HGNC:19869"	"SCARF2"	"MONDO:0010959"	"van den Ende-Gupta syndrome"	"OMIM:600920"	"OMIM:600920"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19869"	"SCARF2"	"OMIM:600920"	"VAN DEN ENDE-GUPTA SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21108395"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114094"	"2023-09-11"
"GENCC_000112-HGNC_25784-OMIM_241080-HP_0000007-GENCC_100004"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"OMIM:241080"	"OMIM:241080"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25784"	"DCAF17"	"OMIM:241080"	"WOODHOUSE-SAKATI SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114095"	"2023-09-11"
"GENCC_000112-HGNC_7473-OMIM_236270-HP_0000007-GENCC_100001"	"HGNC:7473"	"MTRR"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"OMIM:236270"	"OMIM:236270"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7473"	"MTRR"	"OMIM:236270"	"HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15714522,12555939,9501215"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114096"	"2023-09-11"
"GENCC_000112-HGNC_15979-OMIM_604292-HP_0000006-GENCC_100001"	"HGNC:15979"	"TP63"	"MONDO:0011428"	"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"	"OMIM:604292"	"OMIM:604292"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15979"	"TP63"	"OMIM:604292"	"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-08-31 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000113299"	"2023-09-11"
"GENCC_000112-HGNC_20087-OMIM_615985-HP_0000007-GENCC_100001"	"HGNC:20087"	"TTC8"	"MONDO:0014436"	"Bardet-Biedl syndrome 8"	"OMIM:615985"	"OMIM:615985"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20087"	"TTC8"	"OMIM:615985"	"BARDET-BIEDL SYNDROME TYPE 8"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114098"	"2023-09-11"
"GENCC_000112-HGNC_6482-OMIM_607855-HP_0000007-GENCC_100001"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"OMIM:607855"	"OMIM:607855"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6482"	"LAMA2"	"OMIM:607855"	"CONGENITAL MUSCULAR DYSTROPHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9158149,18700894,16216942,7550355,12552556,11591858,12601554,11071490"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114099"	"2023-09-11"
"GENCC_000112-HGNC_9086-OMIM_312080-HP_0001419-GENCC_100001"	"HGNC:9086"	"PLP1"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"OMIM:312080"	"OMIM:312080"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:9086"	"PLP1"	"OMIM:312080"	"LEUKODYSTROPHY HYPOMYELINATING TYPE 1"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:45"	""	""	"7573159, 3827224, 8659540, 7574457, 8723686, 1605230, 1720927, 8696336, 1384324, 2773936, 1707231, 7683951, 11071483, 2480601, 9056547, 1715570, 8786077"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"686"	"2020-11-25"
"GENCC_000112-HGNC_9689-OMIM_261640-HP_0000007-GENCC_100001"	"HGNC:9689"	"PTS"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"OMIM:261640"	"OMIM:261640"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9689"	"PTS"	"OMIM:261640"	"6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8178819,10220141,9450907"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114101"	"2023-09-11"
"GENCC_000112-HGNC_2185-OMIM_156500-HP_0000006-GENCC_100001"	"HGNC:2185"	"COL10A1"	"MONDO:0007983"	"Schmid metaphyseal chondrodysplasia"	"OMIM:156500"	"OMIM:156500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2185"	"COL10A1"	"OMIM:156500"	"SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12554676,7607655,10991694,7749409,17403716,9468540,8012364,9525992,9852679,8986632,9067753,8004099,8554571,8304336"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114102"	"2023-09-11"
"GENCC_000112-HGNC_3604-OMIM_121050-HP_0000006-GENCC_100001"	"HGNC:3604"	"FBN2"	"MONDO:0007363"	"congenital contractural arachnodactyly"	"OMIM:121050"	"OMIM:121050"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3604"	"FBN2"	"OMIM:121050"	"CONGENITAL CONTRACTURAL ARACHNODACTYLY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10797416,20799338,8900230,9199560,11281275,9737771,9106527"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114103"	"2023-09-11"
"GENCC_000112-HGNC_13666-OMIM_231550-HP_0000007-GENCC_100001"	"HGNC:13666"	"AAAS"	"MONDO:0009279"	"triple-A syndrome"	"OMIM:231550"	"OMIM:231550"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13666"	"AAAS"	"OMIM:231550"	"ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11159947,18628786,11701718,11062474,15173230"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114104"	"2023-09-11"
"GENCC_000112-HGNC_26019-OMIM_614078-HP_0000007-GENCC_100001"	"HGNC:26019"	"BPNT2"	"MONDO:0013561"	"chondrodysplasia with joint dislocations, gPAPP type"	"OMIM:614078"	"OMIM:614078"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26019"	"BPNT2"	"OMIM:614078"	"CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21549340"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114106"	"2023-09-11"
"GENCC_000112-HGNC_12632-OMIM_300919-HP_0001423-GENCC_100002"	"HGNC:12632"	"USP9X"	"MONDO:0010487"	"intellectual disability, X-linked 99"	"OMIM:300919"	"OMIM:300919"	"GENCC:100002"	"Strong"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:12632"	"USP9X"	"OMIM:300919"	"MENTAL RETARDATION, X-LINKED 99"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100002"	"Strong"	"2015-07-22 16:14:45"	""	""	"24607389, 26833328"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"693"	"2020-11-25"
"GENCC_000112-HGNC_5147-OMIM_276710-HP_0000007-GENCC_100002"	"HGNC:5147"	"HPD"	"MONDO:0010162"	"tyrosinemia type III"	"OMIM:276710"	"OMIM:276710"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5147"	"HPD"	"OMIM:276710"	"TYROSINEMIA TYPE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"10942115"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114108"	"2023-09-11"
"GENCC_000112-HGNC_30492-OMIM_606763-HP_0000007-GENCC_100001"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"OMIM:606763"	"OMIM:606763"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30492"	"DNAAF3"	"OMIM:606763"	"PRIMARY CILIARY DYSKINEASIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10745040,22387996"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114109"	"2023-09-11"
"GENCC_000112-HGNC_31399-OMIM_616269-HP_0000007-GENCC_100002"	"HGNC:31399"	"SLC6A17"	"MONDO:0014559"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"OMIM:616269"	"OMIM:616269"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:31399"	"SLC6A17"	"OMIM:616269"	"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25704603"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114110"	"2023-09-11"
"GENCC_000112-HGNC_2979-OMIM_242860-HP_0000007-GENCC_100001"	"HGNC:2979"	"DNMT3B"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"OMIM:242860"	"OMIM:242860"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2979"	"DNMT3B"	"OMIM:242860"	"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12239717,10647011,10555141"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114111"	"2023-09-11"
"GENCC_000112-HGNC_3775-OMIM_300624-HP_0001419-GENCC_100001"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"OMIM:300624"	"OMIM:300624"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3775"	"FMR1"	"OMIM:300624"	"FRAGILE X SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:45"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"698"	"2020-11-25"
"GENCC_000112-HGNC_2468-OMIM_610759-HP_0000006-GENCC_100001"	"HGNC:2468"	"SMC3"	"MONDO:0012555"	"Cornelia de Lange syndrome 3"	"OMIM:610759"	"OMIM:610759"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2468"	"SMC3"	"OMIM:610759"	"CORNELIA DE LANGE SYNDROME TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17273969,20358602,25655089,25125236"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114113"	"2023-09-11"
"GENCC_000112-HGNC_17494-OMIM_613206-HP_0000006-GENCC_100001"	"HGNC:17494"	"GJC2"	"MONDO:0013179"	"hereditary spastic paraplegia 44"	"OMIM:613206"	"OMIM:613206"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17494"	"GJC2"	"OMIM:613206"	"SPASTIC PARAPLEGIA, 44"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:45"	""	""	"19056803"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"700"	"2020-11-25"
"GENCC_000112-HGNC_20318-OMIM_206920-HP_0000007-GENCC_100001"	"HGNC:20318"	"SMOC1"	"MONDO:0008800"	"microphthalmia with limb anomalies"	"OMIM:206920"	"OMIM:206920"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20318"	"SMOC1"	"OMIM:206920"	"OPHTHALMOACROMELIC SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19208380,21194678"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114114"	"2023-09-11"
"GENCC_000112-HGNC_11006-OMIM_227810-HP_0000007-GENCC_100001"	"HGNC:11006"	"SLC2A2"	"MONDO:0009216"	"glycogen storage disease due to GLUT2 deficiency"	"OMIM:227810"	"OMIM:227810"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11006"	"SLC2A2"	"OMIM:227810"	"FANCONI-BICKEL SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9354798,11044475"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114115"	"2023-09-11"
"GENCC_000112-HGNC_2939-OMIM_615807-HP_0000007-GENCC_100004"	"HGNC:2939"	"DNA2"	"MONDO:0014350"	"Seckel syndrome 8"	"OMIM:615807"	"OMIM:615807"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2939"	"DNA2"	"OMIM:615807"	"PRIMORDIAL DWARFISM SECKEL SYNDROME 8"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"24389050"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114116"	"2023-09-11"
"GENCC_000112-HGNC_2518-OMIM_219800-HP_0000007-GENCC_100001"	"HGNC:2518"	"CTNS"	"MONDO:0100151"	"nephropathic cystinosis"	"OMIM:219800"	"OMIM:219800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2518"	"CTNS"	"OMIM:219800"	"CYSTINOSIS NEPHROPATHIC TYPE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10625078,9792862,11505338,10673275,10556299,10444339,9537412,12442267,19863563,11565547"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114117"	"2023-09-11"
"GENCC_000112-HGNC_6694-OMIM_222448-HP_0000007-GENCC_100001"	"HGNC:6694"	"LRP2"	"MONDO:0009104"	"Donnai-Barrow syndrome"	"OMIM:222448"	"OMIM:222448"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6694"	"LRP2"	"OMIM:222448"	"DONNAI-BARROW SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19577669,17632512,23992033,29388841"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114118"	"2023-09-11"
"GENCC_000112-HGNC_29426-OMIM_235510-HP_0000007-GENCC_100001"	"HGNC:29426"	"CCBE1"	"MONDO:0009337"	"Hennekam lymphangiectasia-lymphedema syndrome 1"	"OMIM:235510"	"OMIM:235510"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29426"	"CCBE1"	"OMIM:235510"	"HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19935664"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114120"	"2023-09-11"
"GENCC_000112-HGNC_2962-OMIM_613091-HP_0000007-GENCC_100001"	"HGNC:2962"	"DYNC2H1"	"MONDO:0013127"	"asphyxiating thoracic dystrophy 3"	"OMIM:613091"	"OMIM:613091"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2962"	"DYNC2H1"	"OMIM:613091"	"Short-rib thoracic dysplasia 3 with or without polydactyly"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19361615,19442771"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114121"	"2023-09-11"
"GENCC_000112-HGNC_34016-OMIM_210710-HP_0000007-GENCC_100001"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0008871"	"microcephalic osteodysplastic primordial dwarfism type I"	"OMIM:210710"	"OMIM:210710"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:34016"	"RNU4ATAC"	"OMIM:210710"	"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21474761,17666473,21474760,22581640"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114122"	"2023-09-11"
"GENCC_000112-HGNC_18801-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:18801"	"POGZ"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18801"	"POGZ"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"31136090,26763879,27148570,26942287,31347273,25533962,28480548,31782611,32103003,30879264,27103995,25694107,26739615"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114123"	"2023-09-11"
"GENCC_000112-HGNC_12786-OMIM_276820-HP_0000007-GENCC_100001"	"HGNC:12786"	"WNT7A"	"MONDO:0010164"	"phocomelia, Schinzel type"	"OMIM:276820"	"OMIM:276820"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12786"	"WNT7A"	"OMIM:276820"	"LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:46"	""	""	"16826533, 20949531, 21344627, 21271649"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"712"	"2020-11-25"
"GENCC_000112-HGNC_1630-OMIM_609057-HP_0000007-GENCC_100002"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"OMIM:609057"	"OMIM:609057"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1630"	"CD151"	"OMIM:609057"	"NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"15265795"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114124"	"2023-09-11"
"GENCC_000112-HGNC_20766-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:20766"	"TUBA1A"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20766"	"TUBA1A"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114125"	"2023-09-11"
"GENCC_000112-HGNC_291-OMIM_103050-HP_0000007-GENCC_100001"	"HGNC:291"	"ADSL"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"OMIM:103050"	"OMIM:103050"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:291"	"ADSL"	"OMIM:103050"	"ADENYLOSUCCINASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"6150139,12016589,18830228,10090474,9545543"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114127"	"2023-09-11"
"GENCC_000112-HGNC_4392-OMIM_219080-HP_0001442-GENCC_100001"	"HGNC:4392"	"GNAS"	"MONDO:0020735"	"ACTH-independent macronodular adrenal hyperplasia 1"	"OMIM:219080"	"OMIM:219080"	"GENCC:100001"	"Definitive"	"HP:0001442"	"Somatic mosaicism"	"GENCC:000112"	"G2P"	"HGNC:4392"	"GNAS"	"OMIM:219080"	"ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA"	"HP:0001442"	"Somatic Somatic mosaicismism"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:46"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"720"	"2020-11-25"
"GENCC_000112-HGNC_14415-OMIM_614457-HP_0000007-GENCC_100001"	"HGNC:14415"	"ELOVL4"	"MONDO:0013760"	"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"OMIM:614457"	"OMIM:614457"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14415"	"ELOVL4"	"OMIM:614457"	"ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22100072"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114130"	"2023-09-11"
"GENCC_000112-HGNC_20778-OMIM_615771-HP_0000006-GENCC_100001"	"HGNC:20778"	"TUBB"	"MONDO:0014341"	"complex cortical dysplasia with other brain malformations 6"	"OMIM:615771"	"OMIM:615771"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20778"	"TUBB"	"OMIM:615771"	"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23246003"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114133"	"2023-09-11"
"GENCC_000112-HGNC_24931-OMIM_314580-HP_0001419-GENCC_100001"	"HGNC:24931"	"ZC4H2"	"MONDO:0010758"	"Wieacker-Wolff syndrome"	"OMIM:314580"	"OMIM:314580"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:24931"	"ZC4H2"	"OMIM:314580"	"ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:47"	""	""	"23623388, 31206972, 1915520, 4039531"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"726"	"2020-11-25"
"GENCC_000112-HGNC_14294-OMIM_606232-HP_0000006-GENCC_100002"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"OMIM:606232"	"OMIM:606232"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14294"	"SHANK3"	"OMIM:606232"	"PHELAN-MCDERMID SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22892527,17173049"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114137"	"2023-09-11"
"GENCC_000112-HGNC_8806-OMIM_312170-HP_0001423-GENCC_100001"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"OMIM:312170"	"OMIM:312170"	"GENCC:100001"	"Definitive"	"HP:0001423"	"X-linked dominant"	"GENCC:000112"	"G2P"	"HGNC:8806"	"PDHA1"	"OMIM:312170"	"PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES"	"HP:0001423"	"X-linked dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:47"	""	""	"9686362, 1909778, 10486093, 8199595, 1293379, 2378353, 8771169, 2537010, 3137520, 8032855, 12379317, 1907799, 7573035, 1909401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"729"	"2020-11-25"
"GENCC_000112-HGNC_2040-OMIM_248190-HP_0000007-GENCC_100001"	"HGNC:2040"	"CLDN19"	"MONDO:0009548"	"renal hypomagnesemia 5 with ocular involvement"	"OMIM:248190"	"OMIM:248190"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2040"	"CLDN19"	"OMIM:248190"	"HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17033971"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114139"	"2023-09-11"
"GENCC_000112-HGNC_10848-OMIM_174500-HP_0000006-GENCC_100001"	"HGNC:10848"	"SHH"	"MONDO:0008270"	"polydactyly of a triphalangeal thumb"	"OMIM:174500"	"OMIM:174500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10848"	"SHH"	"OMIM:174500"	"TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114141"	"2023-09-11"
"GENCC_000112-HGNC_24415-OMIM_614299-HP_0000007-GENCC_100002"	"HGNC:24415"	"BOLA3"	"MONDO:0013675"	"multiple mitochondrial dysfunctions syndrome 2"	"OMIM:614299"	"OMIM:614299"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24415"	"BOLA3"	"OMIM:614299"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"11156534"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114143"	"2023-09-11"
"GENCC_000112-HGNC_11573-OMIM_276600-HP_0000007-GENCC_100001"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"OMIM:276600"	"OMIM:276600"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11573"	"TAT"	"OMIM:276600"	"TYROSINEMIA TYPE 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1357662"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114145"	"2023-09-11"
"GENCC_000112-HGNC_26006-OMIM_124000-HP_0000007-GENCC_100001"	"HGNC:26006"	"TTC19"	"MONDO:0007415"	"mitochondrial complex III deficiency nuclear type 1"	"OMIM:124000"	"OMIM:124000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26006"	"TTC19"	"OMIM:124000"	"MITOCHONDRIAL COMPLEX III DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114146"	"2023-09-11"
"GENCC_000112-HGNC_11190-OMIM_601706-HP_0000006-GENCC_100001"	"HGNC:11190"	"SOX10"	"MONDO:0011133"	"deaf blind hypopigmentation syndrome, Yemenite type"	"OMIM:601706"	"OMIM:601706"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11190"	"SOX10"	"OMIM:601706"	"YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114147"	"2023-09-11"
"GENCC_000112-HGNC_9701-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:9701"	"PURA"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9701"	"PURA"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"32089526,25439098,29150892,29097605,25342064,27148565,29307761,31911028"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114148"	"2023-09-11"
"GENCC_000112-HGNC_17494-OMIM_608804-HP_0000007-GENCC_100001"	"HGNC:17494"	"GJC2"	"MONDO:0012125"	"hypomyelinating leukodystrophy 2"	"OMIM:608804"	"OMIM:608804"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17494"	"GJC2"	"OMIM:608804"	"LEUKODYSTROPHY, HYPOMYELINATING, 2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18094336,15192806,19056803,8733901,16969684"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114149"	"2023-09-11"
"GENCC_000112-HGNC_4979-OMIM_176450-HP_0000006-GENCC_100001"	"HGNC:4979"	"MNX1"	"MONDO:0008305"	"Currarino triad"	"OMIM:176450"	"OMIM:176450"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4979"	"MNX1"	"OMIM:176450"	"CURRARINO SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10631160,16906559,9843207,15216552,7550324"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114151"	"2023-09-11"
"GENCC_000112-HGNC_186-OMIM_102700-HP_0000007-GENCC_100001"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"OMIM:102700"	"OMIM:102700"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:186"	"ADA"	"OMIM:102700"	"ADENOSINE DEAMINASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"980079,1680289,3475710,3182793,8614422,9225964,21228398,2783588,8673127,9361033,46025,3684597,8031011,8227344,3839802,2166947,11807006"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114152"	"2023-09-11"
"GENCC_000112-HGNC_869-OMIM_309400-HP_0001419-GENCC_100001"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"OMIM:309400"	"OMIM:309400"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:869"	"ATP7A"	"OMIM:309400"	"MENKES DISEASE"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:48"	""	""	"9894833, 8812725, 11431706, 9246006, 8149649, 17108763, 15372525, 7842019, 10739752, 14635105, 12221109, 19194885"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"745"	"2020-11-25"
"GENCC_000112-HGNC_17366-OMIM_238700-HP_0000007-GENCC_100002"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"OMIM:238700"	"OMIM:238700"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17366"	"AASS"	"OMIM:238700"	"HYPERLYSINEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"934735,23570448,10775527"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114155"	"2023-09-11"
"GENCC_000112-HGNC_4174-OMIM_600001-HP_0000006-GENCC_100001"	"HGNC:4174"	"GATA6"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"OMIM:600001"	"OMIM:600001"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4174"	"GATA6"	"OMIM:600001"	"PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22158542,8071961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114156"	"2023-09-11"
"GENCC_000112-HGNC_11742-OMIM_113620-HP_0000006-GENCC_100001"	"HGNC:11742"	"TFAP2A"	"MONDO:0007235"	"branchiooculofacial syndrome"	"OMIM:113620"	"OMIM:113620"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11742"	"TFAP2A"	"OMIM:113620"	"BRANCHIOOCULOFACIAL SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"31490282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114157"	"2023-09-11"
"GENCC_000112-HGNC_11609-OMIM_231095-HP_0000007-GENCC_100001"	"HGNC:11609"	"TBXAS1"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"OMIM:231095"	"OMIM:231095"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11609"	"TBXAS1"	"OMIM:231095"	"GHOSAL HEMATODIAPHYSEAL SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114158"	"2023-09-11"
"GENCC_000112-HGNC_3157-OMIM_305100-HP_0001419-GENCC_100001"	"HGNC:3157"	"EDA"	"MONDO:0010585"	"X-linked hypohidrotic ectodermal dysplasia"	"OMIM:305100"	"OMIM:305100"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3157"	"EDA"	"OMIM:305100"	"ECTODERMAL DYSPLASIA TYPE 1"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:48"	""	""	"9507389, 12949972, 9856856, 19921643, 19264582, 8696334, 17066260, 9683615"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"751"	"2020-11-25"
"GENCC_000112-HGNC_2372-OMIM_614249-HP_0000007-GENCC_100004"	"HGNC:2372"	"MED23"	"MONDO:0013651"	"intellectual disability, autosomal recessive 18"	"OMIM:614249"	"OMIM:614249"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2372"	"MED23"	"OMIM:614249"	"INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114161"	"2023-09-11"
"GENCC_000112-HGNC_2186-OMIM_228520-HP_0000007-GENCC_100001"	"HGNC:2186"	"COL11A1"	"MONDO:0009226"	"fibrochondrogenesis 1"	"OMIM:228520"	"OMIM:228520"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2186"	"COL11A1"	"OMIM:228520"	"FIBROCHONDROGENESIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21035103"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114162"	"2023-09-11"
"GENCC_000112-HGNC_10969-OMIM_212140-HP_0000007-GENCC_100001"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"OMIM:212140"	"OMIM:212140"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10969"	"SLC22A5"	"OMIM:212140"	"SYSTEMIC PRIMARY CARNITINE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9916797,10425211,15714519,10480371,9700603,2235122,20027113,9634512,3974805,11058897,10051646"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114163"	"2023-09-11"
"GENCC_000112-HGNC_10591-OMIM_168300-HP_0000006-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0008195"	"paramyotonia congenita of Von Eulenburg"	"OMIM:168300"	"OMIM:168300"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10591"	"SCN4A"	"OMIM:168300"	"PARAMYOTONIA CONGENITA OF VON EULENBURG"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1338909,19015492,10369308,8580427,1310898,19015483,8388676,1316765,17998485,18203179"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114164"	"2023-09-11"
"GENCC_000112-HGNC_9577-OMIM_614023-HP_0000007-GENCC_100001"	"HGNC:9577"	"PSPH"	"MONDO:0013531"	"PSPH deficiency"	"OMIM:614023"	"OMIM:614023"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9577"	"PSPH"	"OMIM:614023"	"PHOSPHOSERINE PHOSPHATASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14673469,9222972"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114166"	"2023-09-11"
"GENCC_000112-HGNC_29086-OMIM_614673-HP_0000007-GENCC_100002"	"HGNC:29086"	"CEP135"	"MONDO:0013849"	"microcephaly 8, primary, autosomal recessive"	"OMIM:614673"	"OMIM:614673"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29086"	"CEP135"	"OMIM:614673"	"PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22521416"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114169"	"2023-09-11"
"GENCC_000112-HGNC_3681-OMIM_610706-HP_0000007-GENCC_100001"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"OMIM:610706"	"OMIM:610706"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3681"	"FGF3"	"OMIM:610706"	"DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"18701883,18435799,17236138,21480479"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114170"	"2023-09-11"
"GENCC_000112-HGNC_37276-OMIM_614643-HP_0000007-GENCC_100001"	"HGNC:37276"	"CRPPA"	"MONDO:0013835"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	"OMIM:614643"	"OMIM:614643"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:37276"	"CRPPA"	"OMIM:614643"	"WALKER WARBURG SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9492098,22522420,22522421,23217329,7604843"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114171"	"2023-09-11"
"GENCC_000112-HGNC_25522-OMIM_613988-HP_0000007-GENCC_100001"	"HGNC:25522"	"WRAP53"	"MONDO:0013520"	"dyskeratosis congenita, autosomal recessive 3"	"OMIM:613988"	"OMIM:613988"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25522"	"WRAP53"	"OMIM:613988"	"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21205863"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114173"	"2023-09-11"
"GENCC_000112-HGNC_6848-OMIM_613762-HP_0000006-GENCC_100001"	"HGNC:6848"	"MAP3K1"	"MONDO:0013410"	"46,XY sex reversal 6"	"OMIM:613762"	"OMIM:613762"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6848"	"MAP3K1"	"OMIM:613762"	"46XY SEX REVERSAL 6"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21129722,5419329,12476449"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114174"	"2023-09-11"
"GENCC_000112-HGNC_6407-OMIM_115150-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"OMIM:115150"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6407"	"KRAS"	"OMIM:115150"	"CARDIOFACIOCUTANEOUS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114175"	"2023-09-11"
"GENCC_000112-HGNC_1404-OMIM_611136-HP_0000006-GENCC_100004"	"HGNC:1404"	"CACNB4"	"MONDO:0012627"	"epilepsy, idiopathic generalized, susceptibility to, 13"	"OMIM:611136"	"OMIM:611136"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1404"	"CACNB4"	"OMIM:611136"	"JUVENILE MYOCLONIC EPILEPSY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"10762541"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114176"	"2023-09-11"
"GENCC_000112-HGNC_11604-OMIM_142900-HP_0000006-GENCC_100001"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"OMIM:142900"	"OMIM:142900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11604"	"TBX5"	"OMIM:142900"	"HOLT-ORAM SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114177"	"2023-09-11"
"GENCC_000112-HGNC_7105-OMIM_103500-HP_0000006-GENCC_100001"	"HGNC:7105"	"MITF"	"MONDO:0007077"	"Tietz syndrome"	"OMIM:103500"	"OMIM:103500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7105"	"MITF"	"OMIM:103500"	"TIETZ SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8589691,10851256"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114178"	"2023-09-11"
"GENCC_000112-HGNC_3755-OMIM_108721-HP_0000006-GENCC_100001"	"HGNC:3755"	"FLNB"	"MONDO:0007168"	"atelosteogenesis type III"	"OMIM:108721"	"OMIM:108721"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3755"	"FLNB"	"OMIM:108721"	"ATELOSTEOGENESIS TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14991055"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114179"	"2023-09-11"
"GENCC_000112-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100001"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"OMIM:614284"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"STICKLER SYNDROME, TYPE V"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21671392,31090205"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114180"	"2023-09-11"
"GENCC_000112-HGNC_8620-OMIM_120430-HP_0000006-GENCC_100001"	"HGNC:8620"	"PAX6"	"MONDO:0007354"	"coloboma of optic nerve"	"OMIM:120430"	"OMIM:120430"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8620"	"PAX6"	"OMIM:120430"	"COLOBOMA OF OPTIC NERVE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:49"	""	""	"12721955"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"773"	"2020-11-25"
"GENCC_000112-HGNC_1742-OMIM_614700-HP_0000007-GENCC_100002"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"OMIM:614700"	"OMIM:614700"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1742"	"LRBA"	"OMIM:614700"	"CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"22608502"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114183"	"2023-09-11"
"GENCC_000112-HGNC_6325-OMIM_615282-HP_0000006-GENCC_100002"	"HGNC:6325"	"KIF5C"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"OMIM:615282"	"OMIM:615282"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6325"	"KIF5C"	"OMIM:615282"	"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"23603762"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114184"	"2023-09-11"
"GENCC_000112-HGNC_17944-OMIM_607596-HP_0000007-GENCC_100001"	"HGNC:17944"	"EXOSC3"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"OMIM:607596"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17944"	"EXOSC3"	"OMIM:607596"	"PONTOCEREBELLAR HYPOPLASIA TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"34085948"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114185"	"2023-09-11"
"GENCC_000112-HGNC_3585-OMIM_227646-HP_0000007-GENCC_100001"	"HGNC:3585"	"FANCD2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"OMIM:227646"	"OMIM:227646"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3585"	"FANCD2"	"OMIM:227646"	"FANCONI ANEMIA, COMPLEMENTATION GROUP D2"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11239453"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114186"	"2023-09-11"
"GENCC_000112-HGNC_890-OMIM_250950-HP_0000007-GENCC_100001"	"HGNC:890"	"AUH"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"OMIM:250950"	"OMIM:250950"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:890"	"AUH"	"OMIM:250950"	"3-METHYLGLUTACONIC ACIDURIA TYPE 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20855850,6181239,15033206,12434311,10070612"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114187"	"2023-09-11"
"GENCC_000112-HGNC_3512-OMIM_133700-HP_0000006-GENCC_100001"	"HGNC:3512"	"EXT1"	"MONDO:0007585"	"exostoses, multiple, type 1"	"OMIM:133700"	"OMIM:133700"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3512"	"EXT1"	"OMIM:133700"	"HEREDITARY MULTIPLE EXOSTOSES TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7550340,8981950,15253765,9326317"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114188"	"2023-09-11"
"GENCC_000112-HGNC_2698-OMIM_248600-HP_0000007-GENCC_100001"	"HGNC:2698"	"DBT"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"OMIM:248600"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2698"	"DBT"	"OMIM:248600"	"MAPLE SYRUP URINE DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114189"	"2023-09-11"
"GENCC_000112-HGNC_986-OMIM_248600-HP_0000007-GENCC_100001"	"HGNC:986"	"BCKDHA"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"OMIM:248600"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:986"	"BCKDHA"	"OMIM:248600"	"MAPLE SYRUP URINE DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"1990841,14742428,14508502,11509994,9621512,2703538,18378174,9582350,2022752,1847055,2010537,7883996,8430702"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114190"	"2023-09-11"
"GENCC_000112-HGNC_11021-OMIM_612379-HP_0000007-GENCC_100002"	"HGNC:11021"	"SLC35A1"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"OMIM:612379"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11021"	"SLC35A1"	"OMIM:612379"	"CONGENITAL DISORDERS OF GLYCOSYLATION"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"15576474"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114191"	"2023-09-11"
"GENCC_000112-HGNC_9752-OMIM_261630-HP_0000007-GENCC_100001"	"HGNC:9752"	"QDPR"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"OMIM:261630"	"OMIM:261630"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9752"	"QDPR"	"OMIM:261630"	"BH4-DEFICIENT HYPERPHENYLALANINEMIA C"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"9744478,9341885,2116088,8326489,11153907"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114192"	"2023-09-11"
"GENCC_000112-HGNC_4912-OMIM_137200-HP_0000007-GENCC_100001"	"HGNC:4912"	"HINT1"	"MONDO:0007646"	"Gamstorp-Wohlfart syndrome"	"OMIM:137200"	"OMIM:137200"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4912"	"HINT1"	"OMIM:137200"	"NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22961002"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114194"	"2023-09-11"
"GENCC_000112-HGNC_16808-OMIM_243800-HP_0000007-GENCC_100001"	"HGNC:16808"	"UBR1"	"MONDO:0009479"	"Johanson-Blizzard syndrome"	"OMIM:243800"	"OMIM:243800"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16808"	"UBR1"	"OMIM:243800"	"JOHANSON-BLIZZARD SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16311597,19006206,18553553"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114195"	"2023-09-11"
"GENCC_000112-HGNC_2411-OMIM_115700-HP_0000006-GENCC_100004"	"HGNC:2411"	"CRYGD"	"MONDO:0007281"	"cataract 4 multiple types"	"OMIM:115700"	"OMIM:115700"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2411"	"CRYGD"	"OMIM:115700"	"Cataract 2, multiple types"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"10915766,10521291,9927684,12011157,17564961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114197"	"2023-09-11"
"GENCC_000112-HGNC_12856-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:12856"	"YY1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"OMIM:616579"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12856"	"YY1"	"OMIM:616579"	"INTELLECTUAL DISABILITY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"21076407,28575647"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114199"	"2023-09-11"
"GENCC_000112-HGNC_10933-OMIM_604369-HP_0000007-GENCC_100001"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"OMIM:604369"	"OMIM:604369"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10933"	"SLC17A5"	"OMIM:604369"	"SALLA DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10069709,10581036,10947946"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114200"	"2023-09-11"
"GENCC_000112-HGNC_11110-OMIM_135900-HP_0000006-GENCC_100001"	"HGNC:11110"	"ARID1A"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"OMIM:135900"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11110"	"ARID1A"	"OMIM:135900"	"COFFIN-SIRIS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114201"	"2023-09-11"
"GENCC_000112-HGNC_11957-OMIM_305450-HP_0001419-GENCC_100001"	"HGNC:11957"	"MED12"	"MONDO:0010590"	"FG syndrome 1"	"OMIM:305450"	"OMIM:305450"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11957"	"MED12"	"OMIM:305450"	"OPITZ-KAVEGGIA SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:50"	""	""	"17334363"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"795"	"2020-11-25"
"GENCC_000112-HGNC_11311-OMIM_400045-HP_0001419-GENCC_100001"	"HGNC:11311"	"SRY"	"MONDO:0010766"	"46,XX sex reversal 1"	"OMIM:400045"	"OMIM:400045"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11311"	"SRY"	"OMIM:400045"	"46XY SEX REVERSAL 1"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:50"	""	""	"1339396, 9521592, 1619028, 9443877, 2247149, 1639410, 1570829, 12107262, 9150734, 8105086, 7987333, 7985018, 2247151, 1956279, 10852465, 1483689"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"797"	"2020-11-25"
"GENCC_000112-HGNC_2394-OMIM_600881-HP_0000006-GENCC_100001"	"HGNC:2394"	"CRYBA1"	"MONDO:0010948"	"cataract 10 multiple types"	"OMIM:600881"	"OMIM:600881"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2394"	"CRYBA1"	"OMIM:600881"	"CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14598164"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114205"	"2023-09-11"
"GENCC_000112-HGNC_4214-OMIM_613854-HP_0000006-GENCC_100004"	"HGNC:4214"	"GDF1"	"MONDO:0013463"	"congenital heart defects, multiple types, 6"	"OMIM:613854"	"OMIM:613854"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4214"	"GDF1"	"OMIM:613854"	"TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100004"	"Limited"	"2015-07-22 16:14:50"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"799"	"2020-11-25"
"GENCC_000112-HGNC_10586-OMIM_604233-HP_0000006-GENCC_100001"	"HGNC:10586"	"SCN1B"	"MONDO:0011416"	"generalized epilepsy with febrile seizures plus, type 1"	"OMIM:604233"	"OMIM:604233"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10586"	"SCN1B"	"OMIM:604233"	"EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:50"	""	""	"9697698"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"800"	"2020-11-25"
"GENCC_000112-HGNC_9834-OMIM_182290-HP_0000006-GENCC_100001"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"OMIM:182290"	"OMIM:182290"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9834"	"RAI1"	"OMIM:182290"	"SMITH-MAGENIS SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114207"	"2023-09-11"
"GENCC_000112-HGNC_16892-OMIM_211750-HP_0000006-GENCC_100004"	"HGNC:16892"	"CD96"	"MONDO:0008893"	"C syndrome"	"OMIM:211750"	"OMIM:211750"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16892"	"CD96"	"OMIM:211750"	"C SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"17847009"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114208"	"2023-09-11"
"GENCC_000112-HGNC_20772-OMIM_600638-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0010912"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"OMIM:600638"	"OMIM:600638"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20772"	"TUBB3"	"OMIM:600638"	"CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000112"	""	"GENCC:100002"	"Strong"	"2015-07-22 16:14:51"	""	""	"20074521"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"805"	"2020-11-25"
"GENCC_000112-HGNC_25566-OMIM_615761-HP_0000006-GENCC_100001"	"HGNC:25566"	"SETD5"	"MONDO:0014336"	"intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	"OMIM:615761"	"OMIM:615761"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25566"	"SETD5"	"OMIM:615761"	"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"25138099,28905509,28549204,27375234,28881385,24680889,31656537"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114211"	"2023-09-11"
"GENCC_000112-HGNC_29106-OMIM_615033-HP_0000007-GENCC_100001"	"HGNC:29106"	"DDHD2"	"MONDO:0014018"	"hereditary spastic paraplegia 54"	"OMIM:615033"	"OMIM:615033"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29106"	"DDHD2"	"OMIM:615033"	"COMPLEX HEREDITARY SPASTIC PARAPLEGIA"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23176823"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114212"	"2023-09-11"
"GENCC_000112-HGNC_6267-OMIM_614098-HP_0000006-GENCC_100002"	"HGNC:6267"	"KCNJ6"	"MONDO:0013572"	"Keppen-Lubinsky syndrome"	"OMIM:614098"	"OMIM:614098"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6267"	"KCNJ6"	"OMIM:614098"	"KEPPEN-LUBINSKY SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"36071510,25620207"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114214"	"2023-09-11"
"GENCC_000112-HGNC_15979-OMIM_106260-HP_0000006-GENCC_100001"	"HGNC:15979"	"TP63"	"MONDO:0007124"	"ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"	"OMIM:106260"	"OMIM:106260"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15979"	"TP63"	"OMIM:106260"	"ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10839977,19530185,12838557,19239083,21204238,17609671,11929852,15736220,10535733,11159940,16724007,12766194,3366140,14684701,11528512,9443880,10886756,16740912,12939657,16114047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114216"	"2023-09-11"
"GENCC_000112-HGNC_7159-OMIM_602111-HP_0000006-GENCC_100001"	"HGNC:7159"	"MMP13"	"MONDO:0011198"	"spondyloepimetaphyseal dysplasia, Missouri type"	"OMIM:602111"	"OMIM:602111"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7159"	"MMP13"	"OMIM:602111"	"SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"8412645,19615667"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114217"	"2023-09-11"
"GENCC_000112-HGNC_4065-OMIM_232300-HP_0000007-GENCC_100001"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"OMIM:232300"	"OMIM:232300"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4065"	"GAA"	"OMIM:232300"	"GLYCOGEN STORAGE DISEASE TYPE II"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15668445,3865697,8834250,1652892,7881422,7945303,1898413,7881425,9529346,17616415"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114219"	"2023-09-11"
"GENCC_000112-HGNC_23204-OMIM_612581-HP_0000006-GENCC_100004"	"HGNC:23204"	"KIRREL3"	"MONDO:0012947"	"intellectual disability, autosomal dominant 4"	"OMIM:612581"	"OMIM:612581"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23204"	"KIRREL3"	"OMIM:612581"	"INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"19012874"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114220"	"2023-09-11"
"GENCC_000112-HGNC_9608-OMIM_125350-HP_0000006-GENCC_100001"	"HGNC:9608"	"PTH1R"	"MONDO:0007434"	"primary failure of tooth eruption"	"OMIM:125350"	"OMIM:125350"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9608"	"PTH1R"	"OMIM:125350"	"PRIMARY FAILURE OF TOOTH ERUPTION"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19061984"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114222"	"2023-09-11"
"GENCC_000112-HGNC_8980-OMIM_603387-HP_0000006-GENCC_100001"	"HGNC:8980"	"PIK3R2"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"OMIM:603387"	"OMIM:603387"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8980"	"PIK3R2"	"OMIM:603387"	"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22729224,26860062"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114223"	"2023-09-11"
"GENCC_000112-HGNC_18249-OMIM_181270-HP_0000006-GENCC_100001"	"HGNC:18249"	"KCTD1"	"MONDO:0008404"	"scalp-ear-nipple syndrome"	"OMIM:181270"	"OMIM:181270"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18249"	"KCTD1"	"OMIM:181270"	"SCALP-EAR-NIPPLE SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"23541344"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114224"	"2023-09-11"
"GENCC_000112-HGNC_13907-OMIM_221900-HP_0000007-GENCC_100004"	"HGNC:13907"	"ATOH7"	"MONDO:0009097"	"persistent hyperplastic primary vitreous, autosomal recessive"	"OMIM:221900"	"OMIM:221900"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13907"	"ATOH7"	"OMIM:221900"	"RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114225"	"2023-09-11"
"GENCC_000112-HGNC_4236-OMIM_613076-HP_0000007-GENCC_100004"	"HGNC:4236"	"GFER"	"MONDO:0013116"	"congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	"OMIM:613076"	"OMIM:613076"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4236"	"GFER"	"OMIM:613076"	"MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	""	"2015-07-22 00:00:00"	""	""	"19409522"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114226"	"2023-09-11"
"GENCC_000112-HGNC_11598-OMIM_611363-HP_0000006-GENCC_100001"	"HGNC:11598"	"TBX20"	"MONDO:0012654"	"atrial septal defect 4"	"OMIM:611363"	"OMIM:611363"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11598"	"TBX20"	"OMIM:611363"	"ATRIAL SEPTAL DEFECT TYPE 4"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19762328,17668378"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114227"	"2023-09-11"
"GENCC_000112-HGNC_30760-OMIM_614727-HP_0000007-GENCC_100001"	"HGNC:30760"	"TMEM165"	"MONDO:0013870"	"TMEM165-congenital disorder of glycosylation"	"OMIM:614727"	"OMIM:614727"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30760"	"TMEM165"	"OMIM:614727"	"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"22683087"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114228"	"2023-09-11"
"GENCC_000112-HGNC_1497-OMIM_300422-HP_0001419-GENCC_100001"	"HGNC:1497"	"CASK"	"MONDO:0010318"	"FG syndrome 4"	"OMIM:300422"	"OMIM:300422"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:1497"	"CASK"	"OMIM:300422"	"FG SYNDROME TYPE 4"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:51"	""	""	"20029458, 19377476, 19200522"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"824"	"2020-11-25"
"GENCC_000112-HGNC_3754-OMIM_305620-HP_0001419-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0024550"	"frontometaphyseal dysplasia 1"	"OMIM:305620"	"OMIM:305620"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"OMIM:305620"	"FRONTOMETAPHYSEAL DYSPLASIA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:51"	""	""	"28498505, 12612583"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"825"	"2020-11-25"
"GENCC_000112-HGNC_24587-OMIM_610532-HP_0000007-GENCC_100001"	"HGNC:24587"	"HYCC1"	"MONDO:0012514"	"hypomyelinating leukodystrophy 5"	"OMIM:610532"	"OMIM:610532"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24587"	"HYCC1"	"OMIM:610532"	"LEUKODYSTROPHY HYPOMYELINATING TYPE 5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17928815,16951682"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114231"	"2023-09-11"
"GENCC_000112-HGNC_11630-OMIM_137920-HP_0000006-GENCC_100001"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"OMIM:137920"	"OMIM:137920"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11630"	"HNF1B"	"OMIM:137920"	"RENAL CYSTS AND DIABETES SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"15181075,12675839,9398836,11317673,10720943,11562418,11085914,17440011,10484768,15068978"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114232"	"2023-09-11"
"GENCC_000112-HGNC_5172-OMIM_146550-HP_0000007-GENCC_100001"	"HGNC:5172"	"HR"	"MONDO:0100522"	"hypotrichosis 4"	"OMIM:146550"	"OMIM:146550"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5172"	"HR"	"OMIM:146550"	"ALOPECIA UNIVERSALIS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19897589,17680008,10777357"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114235"	"2023-09-11"
"GENCC_000112-HGNC_886-OMIM_301040-HP_0001419-GENCC_100001"	"HGNC:886"	"ATRX"	"MONDO:0010519"	"alpha thalassemia-X-linked intellectual disability syndrome"	"OMIM:301040"	"OMIM:301040"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:886"	"ATRX"	"OMIM:301040"	"ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:52"	""	""	"6682021, 10632111, 9244431, 8644709, 10751095, 9598720, 16222662, 9043863, 10995512, 6711605, 7697714, 12116232, 15565397"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"832"	"2020-11-25"
"GENCC_000112-HGNC_5961-OMIM_300301-HP_0001419-GENCC_100001"	"HGNC:5961"	"IKBKG"	"MONDO:0010295"	"anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"	"OMIM:300301"	"OMIM:300301"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:5961"	"IKBKG"	"OMIM:300301"	"ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:52"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"833"	"2020-11-25"
"GENCC_000112-HGNC_6121-OMIM_119500-HP_0000006-GENCC_100001"	"HGNC:6121"	"IRF6"	"MONDO:0007334"	"autosomal dominant popliteal pterygium syndrome"	"OMIM:119500"	"OMIM:119500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6121"	"IRF6"	"OMIM:119500"	"POPLITEAL PTERYGIUM SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12219090,20803643"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114238"	"2023-09-11"
"GENCC_000112-HGNC_10914-OMIM_218000-HP_0000007-GENCC_100001"	"HGNC:10914"	"SLC12A6"	"MONDO:0000902"	"agenesis of the corpus callosum with peripheral neuropathy"	"OMIM:218000"	"OMIM:218000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10914"	"SLC12A6"	"OMIM:218000"	"AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12368912,17893295,21628467,16606917"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114239"	"2023-09-11"
"GENCC_000112-HGNC_15979-OMIM_129400-HP_0000006-GENCC_100001"	"HGNC:15979"	"TP63"	"MONDO:0007508"	"Rapp-Hodgkin syndrome"	"OMIM:129400"	"OMIM:129400"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15979"	"TP63"	"OMIM:129400"	"ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2017-09-01 00:00:00"	""	""	"10839977,19530185,11462173,19239083,17609671,15736220,11929852,11159940,16724007,12766194,3366140,11528512,14684701,10886756,12939657,16740912,16114047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000112436"	"2023-09-11"
"GENCC_000112-HGNC_11123-OMIM_309583-HP_0001419-GENCC_100002"	"HGNC:11123"	"SMS"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"OMIM:309583"	"OMIM:309583"	"GENCC:100002"	"Strong"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11123"	"SMS"	"OMIM:309583"	"SNYDER-ROBINSON SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100002"	"Strong"	"2015-07-22 16:14:52"	""	""	"5823961, 19206178, 18550699"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"839"	"2020-11-25"
"GENCC_000112-HGNC_3974-OMIM_229100-HP_0000007-GENCC_100001"	"HGNC:3974"	"FTCD"	"MONDO:0009240"	"formiminoglutamic aciduria"	"OMIM:229100"	"OMIM:229100"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3974"	"FTCD"	"OMIM:229100"	"GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12815595"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114243"	"2023-09-11"
"GENCC_000112-HGNC_6296-OMIM_121200-HP_0000006-GENCC_100001"	"HGNC:6296"	"KCNQ2"	"MONDO:0007365"	"seizures, benign familial neonatal, 1"	"OMIM:121200"	"OMIM:121200"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6296"	"KCNQ2"	"OMIM:121200"	"BENIGN NEONATAL EPILEPSY TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10323247,17872363,9430594,16235065,11572947,9425895,15249611,11175290"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114244"	"2023-09-11"
"GENCC_000112-HGNC_756-OMIM_271900-HP_0000007-GENCC_100001"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"OMIM:271900"	"OMIM:271900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:756"	"ASPA"	"OMIM:271900"	"CANAVAN DISEASE"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"12638939,8088831,16437572,7599639,8023850,10909858,10564886,8659549,8252036,7668285"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114245"	"2023-09-11"
"GENCC_000112-HGNC_25843-OMIM_610227-HP_0000006-GENCC_100002"	"HGNC:25843"	"ZNF750"	"MONDO:0012446"	"seborrhea-like dermatitis with psoriasiform elements"	"OMIM:610227"	"OMIM:610227"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25843"	"ZNF750"	"OMIM:610227"	"SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"16751772"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114246"	"2023-09-11"
"GENCC_000112-HGNC_3373-OMIM_613684-HP_0000006-GENCC_100001"	"HGNC:3373"	"EP300"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"OMIM:613684"	"OMIM:613684"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3373"	"EP300"	"OMIM:613684"	"RUBINSTEIN-TAYBI SYNDROME TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17299436,20014264,15706485,19353645"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114247"	"2023-09-11"
"GENCC_000112-HGNC_20439-OMIM_300676-HP_0001419-GENCC_100001"	"HGNC:20439"	"UPF3B"	"MONDO:0010398"	"syndromic X-linked intellectual disability 14"	"OMIM:300676"	"OMIM:300676"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:20439"	"UPF3B"	"OMIM:300676"	"MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:52"	""	""	"17704778"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"845"	"2020-11-25"
"GENCC_000112-HGNC_746-OMIM_207900-HP_0000007-GENCC_100001"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"OMIM:207900"	"OMIM:207900"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:746"	"ASL"	"OMIM:207900"	"ARGININOSUCCINATE LYASE DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"2263616,12408190,12384776"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114250"	"2023-09-11"
"GENCC_000112-HGNC_18539-OMIM_616172-HP_0000006-GENCC_100002"	"HGNC:18539"	"STX1B"	"MONDO:0014517"	"generalized epilepsy with febrile seizures plus, type 9"	"OMIM:616172"	"OMIM:616172"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18539"	"STX1B"	"OMIM:616172"	"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"25362483"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114251"	"2023-09-11"
"GENCC_000112-HGNC_2200-OMIM_609508-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0012287"	"Stickler syndrome, type I, nonsyndromic ocular"	"OMIM:609508"	"OMIM:609508"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2200"	"COL2A1"	"OMIM:609508"	"STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17721977,15671297,16752401,15316962,8723097"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114252"	"2023-09-11"
"GENCC_000112-HGNC_10994-OMIM_600972-HP_0000007-GENCC_100001"	"HGNC:10994"	"SLC26A2"	"MONDO:0010966"	"achondrogenesis type IB"	"OMIM:600972"	"OMIM:600972"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10994"	"SLC26A2"	"OMIM:600972"	"ACHONDROGENESIS TYPE 1B"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"7923357,8571951,10466420,8528239,4644462,10482955,18925670"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114253"	"2023-09-11"
"GENCC_000112-HGNC_4075-OMIM_611136-HP_0000006-GENCC_100002"	"HGNC:4075"	"GABRA1"	"MONDO:0012627"	"epilepsy, idiopathic generalized, susceptibility to, 13"	"OMIM:611136"	"OMIM:611136"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4075"	"GABRA1"	"OMIM:611136"	"JUVENILE MYOCLONIC EPILEPSY"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"11992121"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114254"	"2023-09-11"
"GENCC_000112-HGNC_10891-OMIM_610896-HP_0000006-GENCC_100001"	"HGNC:10891"	"SIX5"	"MONDO:0012575"	"branchiootorenal syndrome 2"	"OMIM:610896"	"OMIM:610896"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10891"	"SIX5"	"OMIM:610896"	"BRANCHIOOTORENAL SYNDROME TYPE 2"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"17357085"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114257"	"2023-09-11"
"GENCC_000112-HGNC_25302-OMIM_607426-HP_0000007-GENCC_100001"	"HGNC:25302"	"COQ9"	"MONDO:0011829"	"coenzyme Q10 deficiency, primary, 1"	"OMIM:607426"	"OMIM:607426"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25302"	"COQ9"	"OMIM:607426"	"COENZYME Q10 DEFICIENCY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"19375058"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114258"	"2023-09-11"
"GENCC_000112-HGNC_9005-OMIM_180500-HP_0000006-GENCC_100001"	"HGNC:9005"	"PITX2"	"MONDO:0008386"	"Axenfeld-Rieger syndrome type 1"	"OMIM:180500"	"OMIM:180500"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9005"	"PITX2"	"OMIM:180500"	"AXENFELD-RIEGER SYNDROME TYPE 1"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"11487566,11301317,7581385,8944018,8942889"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114259"	"2023-09-11"
"GENCC_000112-HGNC_9325-OMIM_256730-HP_0000007-GENCC_100001"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"OMIM:256730"	"OMIM:256730"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9325"	"PPT1"	"OMIM:256730"	"CEROID LIPOFUSCINOSIS, NEURONAL, 1"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000115355"	"2023-09-11"
"GENCC_000112-HGNC_11079-OMIM_300243-HP_0001419-GENCC_100001"	"HGNC:11079"	"SLC9A6"	"MONDO:0010278"	"Christianson syndrome"	"OMIM:300243"	"OMIM:300243"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:11079"	"SLC9A6"	"OMIM:300243"	"MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:53"	""	""	"20395263, 10528855, 18342287"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"858"	"2020-11-25"
"GENCC_000112-HGNC_18704-OMIM_300855-HP_0001419-GENCC_100001"	"HGNC:18704"	"NAA10"	"MONDO:0010457"	"Ogden syndrome"	"OMIM:300855"	"OMIM:300855"	"GENCC:100001"	"Definitive"	"HP:0001419"	"X-linked recessive"	"GENCC:000112"	"G2P"	"HGNC:18704"	"NAA10"	"OMIM:300855"	"OGDEN SYNDROME"	"HP:0001419"	"X-linked recessive inheritance"	"GENCC:000112"	""	"GENCC:100001"	"Definitive"	"2015-07-22 16:14:53"	""	""	"21700266"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"860"	"2020-11-25"
"GENCC_000112-HGNC_1530-OMIM_615673-HP_0000007-GENCC_100001"	"HGNC:1530"	"MICU1"	"MONDO:0014300"	"proximal myopathy with extrapyramidal signs"	"OMIM:615673"	"OMIM:615673"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1530"	"MICU1"	"OMIM:615673"	"MYOPATHY WITH EXTRAPYRAMIDAL SIGNS"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"24336167"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114263"	"2023-09-11"
"GENCC_000112-HGNC_7707-OMIM_256000-HP_0000007-GENCC_100001"	"HGNC:7707"	"NDUFS1"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7707"	"NDUFS1"	"OMIM:256000"	"LEIGH SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114264"	"2023-09-11"
"GENCC_000112-HGNC_29331-OMIM_242840-HP_0000007-GENCC_100001"	"HGNC:29331"	"EPG5"	"MONDO:0009452"	"Vici syndrome"	"OMIM:242840"	"OMIM:242840"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29331"	"EPG5"	"OMIM:242840"	"IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"3344762,23222957"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114266"	"2023-09-11"
"GENCC_000112-HGNC_6696-OMIM_212780-HP_0000007-GENCC_100001"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"OMIM:212780"	"OMIM:212780"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6696"	"LRP4"	"OMIM:212780"	"CENANI-LENZ SYNDACTYLY SYNDROME"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"14577675,9182770,18978656,10756427,20381006,12868467,11260233"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114268"	"2023-09-11"
"GENCC_000112-HGNC_10887-OMIM_608389-HP_0000006-GENCC_100001"	"HGNC:10887"	"SIX1"	"MONDO:0012025"	"branchiootic syndrome 3"	"OMIM:608389"	"OMIM:608389"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10887"	"SIX1"	"OMIM:608389"	"BRANCHIOOTIC SYNDROME TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"10777717,12843324,15141091,17637804"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114269"	"2023-09-11"
"GENCC_000112-HGNC_15573-OMIM_269150-HP_0000006-GENCC_100001"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"OMIM:269150"	"OMIM:269150"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15573"	"SETBP1"	"OMIM:269150"	"SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"20436468"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114270"	"2023-09-11"
"GENCC_000112-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"OMIM:609942"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"NOONAN SYNDROME TYPE 3"	"HP:0000006"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	""	"2015-07-22 00:00:00"	""	""	"16773572,19396835,16474405"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114271"	"2023-09-11"
"GENCC_000112-HGNC_30802-OMIM_610717-HP_0000007-GENCC_100002"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"OMIM:610717"	"OMIM:610717"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30802"	"PNPLA2"	"OMIM:610717"	"NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"17187067,22832386"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114272"	"2023-09-11"
"GENCC_000112-HGNC_572-OMIM_614066-HP_0000007-GENCC_100002"	"HGNC:572"	"AP4B1"	"MONDO:0013551"	"hereditary spastic paraplegia 47"	"OMIM:614066"	"OMIM:614066"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:572"	"AP4B1"	"OMIM:614066"	"CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"21620353,22290197"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114273"	"2023-09-11"
"GENCC_000112-HGNC_16999-OMIM_615803-HP_0000007-GENCC_100002"	"HGNC:16999"	"CLP1"	"MONDO:0014349"	"pontocerebellar hypoplasia type 10"	"OMIM:615803"	"OMIM:615803"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16999"	"CLP1"	"OMIM:615803"	"PONTOCEREBELLAR HYPOPLASIA, TYPE 10"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	""	"24766809"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"1000114274"	"2023-09-11"
"GENCC_000112-HGNC_5111-OMIM_614744-HP_0000007-GENCC_100002"	"HGNC:5111"	"HOXB1"	"MONDO:0013880"	"facial paresis, hereditary congenital, 3"	"OMIM:614744"	"OMIM:614744"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5111"	"HOXB1"	"OMIM:614744"	"FACIAL PARESIS, HEREDITARY CONGENITAL, 3"	"HP:0000007"	""	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	""	"2015-07-22 00:00:00"	""	"