Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
COMT MUTATION
COMT MUTATION - Associated Disease
- Shprintzen syndrome
- Source Database
- DisGeNET
- Description
- Nine of ∼30 genes involved in 22qDS have the potential of disrupting mitochondrial metabolism (COMT, UFD1L, DGCR8, MRPL40, PRODH, SLC25A1, TXNRD2, T10, and ZDHHC8).
- Pubmed
- 26221035
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD,ORPHANET
- DisGENET score for the Gene Disease association
- 0.134581916222216
Drugs