Annotation Detail

Information
Associated Genes
OPRM1
Associated Variants
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 )
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 )
Associated Disease
substance dependence
Source Database
DisGeNET
Description
A single-nucleotide polymorphism (SNP) within the OPRM1 gene, A118G, leading to an amino acid change (Asn40Asp) in the extracellular portion of the receptor, has been implicated in alcoholism as well as in drug addiction, pain sensitivity and stress response, and in animal and human studies relates to the alcohol-dependent phenotype as well as to the treatment response to the µ-opioid antagonist naltrexone.
Pubmed
23543091
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.014158584609894
Year of publication
2014
Drugs