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
Carcinogenesis
Source Database
DisGeNET
Description
Val158Met is a common single-nucleotide polymorphism of the COMT gene (Ex4-12 G>A; rs4680) that results in a lower activity enzyme, increasing susceptibility to tumorigenesis.
Pubmed
17636223
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00380018620912425
Year of publication
2007
Drugs