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: 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: 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: 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: 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: 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: 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: 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: 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: 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 Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
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: 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: 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: 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