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: 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
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: 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: 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: C0271160
Disease: Cortical cataract
Cortical cataract 		0.030 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
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: 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: 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: C0339358
Disease: Infantile cataract
Infantile cataract 		0.020 GeneticVariation disease BEFREE Our two recent reports on the high resolution NMR structure and conformational dynamics of G57W variant of human γS-crystallin (abbreviated as γS-G57W) causing severe infantile cataracts, revealed slackening of its N-terminal domain with enhanced local conformational dynamics attributed to mutation. 31084934 2019
CUI: C0339358
Disease: Infantile cataract
Infantile cataract 		0.020 GeneticVariation disease BEFREE Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts. 30391002 2018
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: 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: 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: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.010 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.010 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.010 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts 		0.010 GeneticVariation disease BEFREE We report a novel missense mutation, p.V42M, in CRYGS associated with bilateral congenital cataract in a family of Indian origin. 19262743 2009