Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
COMT MUTATION
COMT MUTATION - Associated Disease
- TIBIAL MUSCULAR DYSTROPHY, TARDIVE
- Source Database
- DisGeNET
- Description
- Results show that the COMT rs4680 (rs4680>val(158)met) polymorphism is most strongly associated with outcome measures, such that individuals with the minor A allele (met) exhibit reduced COMT activity, increased TMD risk, and increased musculoskeletal pain.
- Pubmed
- 25218601
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
Drugs