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: 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 GENOMICS_ENGLAND
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0086543
Disease: Cataract
Cataract 		0.480 Biomarker disease HPO
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.400 Biomarker disease HPO
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 CausalMutation disease CLINVAR
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		0.030 GeneticVariation disease BEFREE 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: 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 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: 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: 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: 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: C1854021
Disease: Cataract, Central Saccular, With Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities 		0.300 GermlineCausalMutation disease ORPHANET Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
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: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.400 Biomarker disease CTD_human Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		0.300 Biomarker phenotype CTD_human Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
CUI: C1854021
Disease: Cataract, Central Saccular, With Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities 		0.300 GermlineCausalMutation disease ORPHANET Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		0.030 GeneticVariation disease BEFREE Here, we report the structure and α-crystallin binding interface of the G18V variant of human γS-crystallin (γS-G18V), which is linked to hereditary childhood-onset cortical cataract. 24183572 2013
CUI: C0086543
Disease: Cataract
Cataract 		0.480 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 Mutations in human γS-crystallin are contingent with childhood cataracts. 31738854 2019
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
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: 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