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
We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schizophrenia; more excitingly, we find that P50 might be influenced by COMT rs737865 polymorphisms and PPI may be influenced by COMT rs165599 polymorphisms in schizophrenia, and their mutations are associated with the reduction of the risk of P50 or PPI defects in schizophrenia.
Pubmed
23598060
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.345417491171353
Year of publication
2013
Drugs