Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Arg406Trp (p.R406W)
(
ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 ) - Associated Disease
- myofibrillar myopathy
- Source Database
- DisGeNET
- Description
- One sporadic patient had a de novo R406W mutation in the desmin gene, and 1 patient with autosomal dominant MM had a single amino acid deletion at position 366 in the desmin gene.
- Pubmed
- 15198127
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00651460492992728
- Year of publication
- 2004
Drugs