Gene Symbol:
SLC4A11
HGNC:16438
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
20p13
Filters:

Strong classifications

corneal dystrophy-perceptive deafness syndrome
Submitted as: OMIM:217400
AR
10/09/2020
Evaluated
11/09/2020
Submitted
corneal dystrophy, Fuchs endothelial, 4
Submitted as: OMIM:613268
AD
08/31/2017
Evaluated
09/11/2023
Submitted
congenital hereditary endothelial dystrophy of cornea
Submitted as: OMIM:217700
AR
07/22/2015
Evaluated
09/11/2023
Submitted
congenital hereditary endothelial dystrophy of cornea
Submitted as: OMIM:217700
AR
03/06/2023
Evaluated
11/30/2023
Submitted
corneal dystrophy-perceptive deafness syndrome
Submitted as: OMIM:217400
AR
09/18/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

corneal dystrophy-perceptive deafness syndrome
Submitted as: Orphanet:1490
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Fuchs' endothelial dystrophy
Submitted as: Orphanet:98974
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital hereditary endothelial dystrophy of cornea
Submitted as: Orphanet:293603
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

corneal dystrophy, Fuchs endothelial, 4
Submitted as: OMIM:613268
AD
09/28/2022
Evaluated
11/30/2023
Submitted

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