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
Abnormal involuntary movement
Source Database
DisGeNET
Description
In the present study, we examined the relationship between the CYP2D6*10 C188T polymorphism and the TD occurrence in 216 Chinese schizophrenic patients (113 patients with TD and 103 patients without TD) and explored the correlation between the TD severity assessed by the Abnormal Involuntary Movement Scale (AIMS) and each C188T genotype in the 113 TD patients.
Pubmed
15118351
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2004
Drugs