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
Mental disorders
Source Database
DisGeNET
Description
One of its most widely studied variations comprises a common single nucleotide polymorphism (SNP), a valine-to-methionine substitution at codon 158 (COMT Val158Met), which has been associated with various cognitive phenotypes, psychiatric disorders and changes in brain activation and structure.
Pubmed
22138198
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.132410381245573
Year of publication
2012
Drugs