Annotation Detail

Information
Associated Genes
DRD3
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 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
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 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
Associated Disease
Pain
Source Database
DisGeNET
Description
These exploratory findings suggest that DRD3 Ser9Gly and COMT Val158Met may contribute to pain heterogeneity in SCD, as suggested by the different rates of acute pain crisis.
Pubmed
25102390
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs