CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Disease: Infantile cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339358
Disease: Infantile cataract
Infantile cataract 		0.020 GeneticVariation disease BEFREE Our two recent reports on the high resolution NMR structure and conformational dynamics of G57W variant of human γS-crystallin (abbreviated as γS-G57W) causing severe infantile cataracts, revealed slackening of its N-terminal domain with enhanced local conformational dynamics attributed to mutation. 31084934 2019
CUI: C0339358
Disease: Infantile cataract
Infantile cataract 		0.020 GeneticVariation disease BEFREE Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts. 30391002 2018