Annotation Detail
Information
- Associated Genes
- DMPK
- Associated Variants
-
DMPK MUTATION
DMPK MUTATION - Associated Disease
- Myotonic dystrophy
- Source Database
- DisGeNET
- Description
- Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cause cardiac conduction disorders and sudden death.
- Pubmed
- 24768612
- Section of the abstract supporting the evidence
- BACKGROUND
- 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
- DisGENET score for the Gene Disease association
- 0.44470979263307
Drugs