Annotation Detail
Information
- Associated Genes
- ABCA1
- 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
- bipolar disorder
- Source Database
- DisGeNET
- Description
- Here, we report the investigation of the differential activity of membrane-bound catechol-O-methyltransferase (MB-COMT) due to altered promoter methylation and the nature of the contribution of COMT Val158Met polymorphism as risk factors for schizophrenia and bipolar disorder by analyzing 115 post-mortem brain samples from the frontal lobe.
- Pubmed
- 16984965
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2006
Drugs