CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Disease: Myopathy ×
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: C0026848
Disease:
Myopathy 		0.030 GeneticVariation BEFREE Expression of the myopathy-causing R120G mutant of αBC, harboring an arginine-to-glycine mutation at position 120, results in aggregate formation. 25449278 2014
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0026848
Disease:
Myopathy 		0.030 GeneticVariation BEFREE These data suggest that the cataract and myopathy pathologies in αB-R120G knock-in mice share common mechanisms, including increased insolubility of αB-crystallin and co-aggregation of αB-crystallin with intermediate filament proteins. 21445271 2011
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0026848
Disease:
Myopathy 		0.030 GeneticVariation BEFREE Nuclear import of {alpha}B-crystallin is phosphorylation-dependent and hampered by hyperphosphorylation of the myopathy-related mutant R120G. 16129694 2005