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: C0271160
Disease: Cortical cataract
Cortical cataract
0.030 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
0.030 GeneticVariation disease BEFREE Here, we report the structure and α-crystallin binding interface of the G18V variant of human γS-crystallin (γS-G18V), which is linked to hereditary childhood-onset cortical cataract. 24183572 2013
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
0.030 GeneticVariation disease BEFREE Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005