Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES MUTATION
DES MUTATION - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies.
- Pubmed
- 25541946
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.011324613757252
Drugs