Gene Symbol:
EPHA2
HGNC:3386
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.13
Filters:

Strong classifications

cataract 6 multiple types
Submitted as: OMIM:116600
AD
02/05/2020
Evaluated
02/03/2022
Submitted

Supportive classifications

early-onset nuclear cataract
Submitted as: Orphanet:98991
AD
09/14/2021
Evaluated
09/14/2021
Submitted
early-onset posterior polar cataract
Submitted as: Orphanet:98993
AD
09/14/2021
Evaluated
09/14/2021
Submitted
total early-onset cataract
Submitted as: Orphanet:98994
AD
09/14/2021
Evaluated
09/14/2021
Submitted
early-onset posterior subcapsular cataract
Submitted as: Orphanet:441447
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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