Annotation Detail

Information
Associated Genes
CYP2D6
Associated Variants
CYP2D6 p.Ala122Val (p.A122V) ( ENST00000359033.4, ENST00000645361.2 )
CYP2D6 p.Ala122Glu (p.A122E) ( ENST00000359033.4, ENST00000645361.2 )
CYP2D6 p.Ala122Val (p.A122V) ( ENST00000359033.4, ENST00000645361.2 )
CYP2D6 p.Ala122Glu (p.A122E) ( ENST00000359033.4, ENST00000645361.2 )
Associated Disease
lingual-facial-buccal dyskinesia
Source Database
DisGeNET
Description
We concluded that the CYP2D6*10 C188T polymorphism may be associated with the susceptibility to the occurrence of TD induced by typical antipsychotics, especially in male patients, and may also be correlated with AIMS scores in TD patients.
Pubmed
15118351
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0125299333774122
Year of publication
2004
Drugs