Annotation Detail
Information
- Associated Genes
- DMPK
- Associated Variants
-
DMPK MUTATION
DMPK MUTATION - Associated Disease
- Congenital Myotonic Dystrophy
- Source Database
- DisGeNET
- Description
- Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by expansion of CTG triplet repeats in 3'-untranslated region of DMPK gene.
- Pubmed
- 25753670
- 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
- DisGENET score for the Gene Disease association
- 0.060802979345988
Drugs