| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.350 | GeneticVariation | disease | BEFREE | Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract. | 27440995 | 2016 | ||||
|
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 | ||||
|
0.350 | Biomarker | disease | MGD | The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. | 12079281 | 2002 | ||||
|
0.350 | Biomarker | disease | MGD | A temperature-sensitive mutation of Crygs in the murine Opj cataract. | 11121426 | 2001 | ||||
|
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 | ||||
|
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 | ||||
|
0.350 | CausalMutation | disease | CLINVAR |