CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE A recently identified mutant of human γS-crystallin, G57W is associated with dominant congenital cataracts, the familial determinate of childhood blindness worldwide. 30769148 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE Single point mutants of human γS-crystallin cause dominant congenital cataracts, a recent one of which involves the substitution of highly conserved glycine at 57th position with a bulkier tryptophan. 30827504 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE Our observations expand the mutation spectrum of CRYGS and provide further evidence for the genetic basis and molecular mechanism of congenital cataract. 29964096 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract. 27440995 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract. 23284690 2012
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker disease MGD The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. 12079281 2002
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker disease MGD A temperature-sensitive mutation of Crygs in the murine Opj cataract. 11121426 2001
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker disease MGD Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. 8812411 1996
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker disease MGD A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. 6877261 1983
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 CausalMutation disease CLINVAR