Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Arg406Trp (p.R406W)
(
ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 ) - Associated Disease
- Disorder of skeletal muscle
- Source Database
- DisGeNET
- Description
- A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
- Pubmed
- 14991347
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2004
Drugs