Annotation Detail
Information
- Associated Genes
- DMPK
- Associated Variants
-
DMPK MUTATION
DMPK MUTATION - Associated Disease
- muscular dystrophy
- Source Database
- DisGeNET
- Description
- Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and is due to trinucleotide sequence (CTG) in the 3' UTR region of DMPK gene located at 19q13.3 chromosome.
- Pubmed
- 25934189
- 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
- 0.00190009310456212
Drugs