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: 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
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: C0456909
Disease: Blindness
Blindness 		0.010 Biomarker phenotype BEFREE Conformational dynamics study on human γS-crystallin as an efficient route to childhood blindness. 30827504 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE The cataract-associated mutant D26G of HGSC is remarkably close to the WT molecule in structural features, with only a microenvironmental change in the packing around the mutation site. 23761725 2013
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure. 29857103 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE Mutations in human γS-crystallin are contingent with childhood cataracts. 31738854 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE Preferential and specific binding of human αB-crystallin to a cataract-related variant of γS-crystallin. 24183572 2013
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE Overall, our results establish a direct conformational link between the structure, dynamics, design and function in human γS-crystallin such that the G57W cataract variant promotes enhanced structural excursions concomitant with increased instability, elucidating very crucial molecular details of cataract formation affecting infants across the globe. 31084934 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE Structure of G57W mutant of human γS-crystallin and its involvement in cataract formation. 30769148 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.480 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.480 AlteredExpression disease BEFREE Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. 19224648 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.480 GeneticVariation disease BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.480 Biomarker disease CTD_human This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans. 16141006 2005
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 CausalMutation disease CLINVAR
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease CTD_human
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease MGD The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. 12079281 2002
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease MGD A temperature-sensitive mutation of Crygs in the murine Opj cataract. 11121426 2001
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 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: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.020 GeneticVariation disease BEFREE This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans. 16141006 2005
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.020 GeneticVariation disease BEFREE Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 19262743 2009