DisGeNET - a database of gene-disease associations

Cataract, C0086543

Variant: rs139609998 ×

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:

rs139609998

rs139609998

CRYGB ; LOC100507443

0.010

GeneticVariation

BEFREE

The R36S mutation in CRYGD identified in this Chinese family caused a nuclear golden crystal cataract phenotype not described before.

2005