Gene Symbol:
COL11A2
HGNC:2187
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p21.32
Filters:

Autosomal dominant nonsyndromic hearing loss classifications

autosomal dominant nonsyndromic hearing loss
Submitted as: Orphanet:90635
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal dominant nonsyndromic hearing loss 13 classifications

autosomal dominant nonsyndromic hearing loss 13
Submitted as: OMIM:601868
AD
10/09/2020
Evaluated
11/09/2020
Submitted
autosomal dominant nonsyndromic hearing loss 13
Submitted as: OMIM:601868
AD
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal dominant nonsyndromic hearing loss 13
Submitted as: OMIM:601868
AD
02/10/2022
Evaluated
08/19/2023
Submitted
autosomal dominant nonsyndromic hearing loss 13
Submitted as: OMIM:601868
AD
07/05/2017
Evaluated
11/30/2023
Submitted

Autosomal recessive nonsyndromic hearing loss 53 classifications

autosomal recessive nonsyndromic hearing loss 53
Submitted as: OMIM:609706
AR
10/09/2020
Evaluated
11/09/2020
Submitted
autosomal recessive nonsyndromic hearing loss 53
Submitted as: OMIM:609706
AR
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal recessive nonsyndromic hearing loss 53
Submitted as: OMIM:609706
AR
11/03/2015
Evaluated
12/24/2020
Submitted
autosomal recessive nonsyndromic hearing loss 53
Submitted as: OMIM:609706
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Fibrochondrogenesis classifications

fibrochondrogenesis
Submitted as: Orphanet:2021
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Hearing loss, autosomal recessive classifications

hearing loss, autosomal recessive
Submitted as: Orphanet:90636
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Nonsyndromic genetic hearing loss classifications

nonsyndromic genetic hearing loss
AD
11/15/2023
Evaluated
04/21/2024
Submitted
nonsyndromic genetic hearing loss
AR
11/15/2023
Evaluated
04/21/2024
Submitted

Otospondylomegaepiphyseal dysplasia classifications

otospondylomegaepiphyseal dysplasia
Submitted as: Orphanet:1427
AR
09/14/2021
Evaluated
09/14/2021
Submitted
otospondylomegaepiphyseal dysplasia
AD
12/20/2018
Evaluated
04/21/2024
Submitted
otospondylomegaepiphyseal dysplasia
AR
12/20/2018
Evaluated
04/21/2024
Submitted

Otospondylomegaepiphyseal dysplasia, autosomal dominant classifications

otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: OMIM:184840
AD
10/09/2020
Evaluated
11/09/2020
Submitted
otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: OMIM:184840
AD
07/22/2015
Evaluated
09/11/2023
Submitted
otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: OMIM:184840
AD
02/19/2020
Evaluated
03/31/2021
Submitted
otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: OMIM:184840
AD
04/02/2018
Evaluated
12/24/2020
Submitted
otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: Orphanet:166100
AD
09/14/2021
Evaluated
09/14/2021
Submitted
otospondylomegaepiphyseal dysplasia, autosomal dominant
Submitted as: OMIM:184840
AD
02/28/2020
Evaluated
11/30/2023
Submitted

Otospondylomegaepiphyseal dysplasia, autosomal recessive classifications

otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AR
10/09/2020
Evaluated
11/09/2020
Submitted
otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AR
07/22/2015
Evaluated
09/11/2023
Submitted
otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AR
11/03/2015
Evaluated
12/24/2020
Submitted
otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AR
06/03/2020
Evaluated
11/30/2023
Submitted

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