Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
COMT MUTATION
COMT MUTATION - Associated Disease
- Shprintzen syndrome
- Source Database
- DisGeNET
- Description
- Adults with 22q11.2DS were genotyped for a number of COMT polymorphisms as well as the Ashkenazi risk haplotype.
- Pubmed
- 24534796
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree,GAD,ORPHANET
- DisGENET score for the Gene Disease association
- 0.134581916222216
Drugs