Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
COMT p.Val158Met (p.V158M)
(
ENST00000361682.11,
ENST00000403184.5,
ENST00000403710.5,
ENST00000406520.7,
ENST00000407537.5,
ENST00000428707.2,
ENST00000449653.5,
ENST00000676678.1,
ENST00000678255.1,
ENST00000678769.1,
ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 ) - Associated Disease
- schizophrenia
- Source Database
- DisGeNET
- Description
- Increased catechol-O-methyltransferase activity associated with variation in catechol-O-methyltransferase valine158 methionine genotypes may result in reduced dopamine neurotransmission in the prefrontal cortex and thus contribute to the poor performance of frontally mediated cognitive tasks and the occurrence of associated negative symptoms observed in patients with schizophrenia; however, reported associations between catechol-O-methyltransferase valine158 methionine genotypes and measures of cognition have not been consistent.
- Pubmed
- 15450787
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.345417491171353
- Year of publication
- 2004
Drugs