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
obsessive-compulsive disorder
Source Database
DisGeNET
Description
Many of these differences are unconfirmed or minor, but some appear to be of reasonable robustness and magnitude; eg the functional Val(158)Met polymorphism in COMT is associated with obsessive-compulsive disorder in men, with anxiety phenotypes in women, and has a greater impact on cognitive function in boys than girls.
Pubmed
17805313
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0343523607106011
Year of publication
2008
Drugs