CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Disease: CARDIOMYOPATHY, DILATED, 1II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. 28493373 2017
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1. 23194663 2013
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR A novel CRYAB mutation resulting in multisystemic disease. 21920752 2012