Annotation Detail
Information
- Associated Genes
- DMPK
- Associated Variants
-
DMPK MUTATION
DMPK MUTATION - Associated Disease
- Myotonic dystrophy
- Source Database
- DisGeNET
- Description
- Expandable (CTG)n repeats in the 3' UTR of the DMPK gene are a cause of myotonic dystrophy type 1 (DM1), which leads to a toxic RNA gain-of-function disease.
- Pubmed
- 24824895
- 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
- DisGENET score for the Gene Disease association
- 0.44470979263307
Drugs