Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Asn116Ser (p.N116S)
(
ENST00000373960.4 )
DES p.Asn116Ser (p.N116S) ( ENST00000373960.4 ) - Associated Disease
- congestive heart failure
- Source Database
- DisGeNET
- Description
- In addition, we screened for desmin mutations and found a novel desmin-mutation p.N116S in a patient with ARVC and terminal heart failure, which is located in segment 1A of the desmin rod domain.
- Pubmed
- 20829228
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2010
Drugs