CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.030 GeneticVariation disease BEFREE Mutations in human γS-crystallin are contingent with childhood cataracts. 31738854 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.030 GeneticVariation disease BEFREE Our results suggested that the aberrant modifications in γS-crystallin structure might contribute to the lower stability and higher aggregatory potency of the mutated protein, which subsequently resulted in cataracts in the patients. 29857103 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.030 GeneticVariation disease BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009