CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0521707
Disease:
Bilateral cataracts (disorder) 		0.020 GeneticVariation BEFREE To understand the mechanism of VP1-001, we tested the ability of its enantiomer, ent-VP1-001, to bind and stabilize αB-crystallin (cryAB) in vitro and to produce a similar therapeutic effect in cryAB(R120G) mutant and aged wild-type mice with cataracts. 31369034 2019
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0521707
Disease:
Bilateral cataracts (disorder) 		0.020 GeneticVariation BEFREE These knock-in αB-R120G mice are a valuable model of the developmental and molecular biological mechanisms that underlie the pathophysiology of human hereditary cataracts and myopathy. 21445271 2011