CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
Disease: CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C1832526
Disease:
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE We identified a mutation in the CRYGD gene (P23S) of the gamma-crystallin gene cluster that is associated with a polymorphic congenital cataract that occurs with frequency of approximately 0.3% in a human population. 17564961 2007