Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- Dmd-Associated Dilated Cardiomyopathy
- Source Database
- DisGeNET
- Description
- Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.
- Pubmed
- 25340340
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.371596055629332
Drugs