CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1483130765
rs1483130765
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0521707
Disease:
Bilateral cataracts (disorder) 		0.010 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753 2016
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0521707
Disease:
Bilateral cataracts (disorder) 		0.010 GeneticVariation BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009