Annotation Detail

Information
Associated Genes
COMT
Associated Variants
rs737865 ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, 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 )
COMT c.*522G>A ( ENST00000361682.11, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
rs737865 ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, 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 )
COMT c.*522G>A ( ENST00000361682.11, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
A common functional polymorphism, Val108/158Met (rs4680), and haplotypes rs737865-rs4680-rs165599 in the Catechol-O-methyltransferase gene (COMT) have been extensively examined for association to schizophrenia; however, results of replication studies have been inconsistent.
Pubmed
19329282
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.345417491171353
Year of publication
2009
Drugs