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, 1I
- Source Database
- DisGeNET
- Description
- Desmin mutation responsible for idiopathic dilated cardiomyopathy.
- Pubmed
- 10430757
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 1999
Drugs