Annotation Detail
Information
- Associated Genes
- DMPK
- Associated Variants
-
DMPK MUTATION
DMPK MUTATION - Associated Disease
- Myotonic dystrophy
- Source Database
- DisGeNET
- Description
- CUG repeat expansions in the 3' UTR of dystrophia myotonica protein kinase (DMPK) cause myotonic dystrophy type 1 (DM1).
- Pubmed
- 25303993
- 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