Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- Muscular Dystrophy, Duchenne
- Source Database
- DisGeNET
- Description
- Mutations in dystrophin lead to Duchenne muscular dystrophy, which is among the most common human genetic disorders.
- Pubmed
- 25082828
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.730349802792239
Drugs