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 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 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 GeneticVariation disease BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 GeneticVariation disease BEFREE Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract. 27440995 2016
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: 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: 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 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
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: 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: 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: 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: 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 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
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