Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ile451Met (p.I451M)
(
ENST00000373960.4 )
DES p.Ile451= (p.I451=) ( ENST00000373960.4 )
DES p.Ile451Met (p.I451M) ( ENST00000373960.4 )
DES p.Ile451= (p.I451=) ( ENST00000373960.4 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency.
- Pubmed
- 11728149
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.13670730089373
- Year of publication
- 2001
Drugs