CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C3805410
Disease:
CATARACT 20, MULTIPLE TYPES
0.800 GeneticVariation UNIPROT Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C3805410
Disease:
CATARACT 20, MULTIPLE TYPES
A 0.800 CausalMutation CLINVAR
dbSNP: rs1114167312
rs1114167312
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease:
Congenital cataract
TT 0.700 CausalMutation CLINVAR
dbSNP: rs1184398243
rs1184398243
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C3805410
Disease:
CATARACT 20, MULTIPLE TYPES
C 0.700 CausalMutation CLINVAR
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0086543
Disease:
Cataract
0.020 GeneticVariation BEFREE A single point mutation generates the cataract-related variant γS-G18V, dramatically altering the optical properties of the eye lens. 27052457 2016
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0086543
Disease:
Cataract
0.020 GeneticVariation BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009
dbSNP: rs1483130765
rs1483130765
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0086543
Disease:
Cataract
0.010 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753 2016
dbSNP: rs1483130765
rs1483130765
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0521707
Disease:
Bilateral cataracts (disorder)
0.010 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753 2016
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0271160
Disease:
Cortical cataract
0.010 GeneticVariation 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
dbSNP: rs143507827
rs143507827
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0086543
Disease:
Cataract
0.010 GeneticVariation 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
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C4021566
Disease:
Progressive cataract
0.010 GeneticVariation BEFREE An autosomal dominant cortical progressive cataract has been associated with a G18V mutation in human gammaS-crystallin. 19558189 2009
dbSNP: rs104893736
rs104893736
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0521707
Disease:
Bilateral cataracts (disorder)
0.010 GeneticVariation BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189 2009