Annotation Detail

Information
Associated Genes
PPIG
Associated Variants
DRD2 p.Ser311Cys (p.S311C) ( ENST00000538967.5, ENST00000346454.7, ENST00000362072.8, ENST00000542968.5, ENST00000544518.5 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
Associated Disease
lingual-facial-buccal dyskinesia
Source Database
DisGeNET
Description
This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) 2 cytochrome P450 (CYP) genes (CYP2D6 or CYP3A5), (b) 2 DRD2 variants (Ser311Cys and -141C Ins/del) and the Ser9Gly DRD3 variants, (c) 2 glutathione S-transferases (GSTT1 and GSTM1), and (d) variations in the PgP gene, MDR1.
Pubmed
16160620
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2005
Drugs