Annotation Detail
Information
- Associated Genes
- BAG3
- Associated Variants
-
BAG3 p.Cys151Arg (p.C151R)
(
ENST00000369085.8 )
BAG3 p.Cys151Arg (p.C151R) ( ENST00000369085.8 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DCM.
- Pubmed
- 21459883
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.244267125083164
- Year of publication
- 2011
Drugs