DisGeNET - a database of gene-disease associations

CATARACT, POSTERIOR POLAR, 1, C1861825

Variant: rs137853200 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853200

EPHA2

0.800

GeneticVariation

UNIPROT

Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.

22570727

2012

dbSNP:

rs137853200

EPHA2

0.800

GeneticVariation

UNIPROT

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

19306328

2009

dbSNP:

rs137853200

EPHA2

0.800

GeneticVariation

UNIPROT

EPHA2 is associated with age-related cortical cataract in mice and humans.

19649315

2009

dbSNP:

rs137853200

EPHA2

0.800

GeneticVariation

UNIPROT

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

19005574

2008

dbSNP:

rs137853200

EPHA2

0.800

CausalMutation

CLINVAR