BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516881
rs397516881
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0026848
Disease:
Myopathy 		0.010 GeneticVariation BEFREE Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM). 28737513 2017
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0026848
Disease:
Myopathy 		0.010 GeneticVariation BEFREE Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. 26545904 2015