CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Disease: Embryonal nuclear cataract (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C0158551
Disease:
Embryonal nuclear cataract (disorder) 		0.020 GeneticVariation BEFREE In this study, we showed that the G129C mutation in γC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. 26165230 2015
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C0158551
Disease:
Embryonal nuclear cataract (disorder) 		0.020 GeneticVariation BEFREE In this study, we identified a novel, heterozygous c.385G<T mutation in CRYGC that resulted in the substitution of a highly conserved glycine by cysteine at codon 129 (p.Gly129Cys) in a three-generation Chinese family with autosomal dominant congenital nuclear cataract by sequencing candidate genes. 22052681 2012