CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.020 GeneticVariation disease BEFREE Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 19262743 2009
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.020 GeneticVariation disease BEFREE This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans. 16141006 2005