BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Restrictive cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.020 GeneticVariation BEFREE The BAG3-Pro209Leu mutation is associated with early onset MFM and severe restrictive cardiomyopathy (RCM), often necessitating heart transplantation during childhood. 29338979 2018
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.020 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