BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ×
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: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.010 GeneticVariation BEFREE These findings indicate that altered autophagy plays a role in the pathogenesis and rapid progression of RCM in MFM caused by the BAG3-Pro209Leu mutation, which could have implications for future therapeutic strategies. 29338979 2018