Annotation Detail

Information
Associated Genes
HTR2A
Associated Variants
HTR2A MUTATION
HTR2A MUTATION
DRD2 p.Ser311Cys (p.S311C) ( ENST00000538967.5, ENST00000346454.7, ENST00000362072.8, ENST00000542968.5, ENST00000544518.5 )
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
Associated Disease
attention deficit hyperactivity disorder
Source Database
DisGeNET
Description
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DRD2 and the T102C polymorphism in HTR2A, and of attention deficit hyperactivity disorder to the 48-bp repeat in DRD4.
Pubmed
15802092
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0287517704854254
Year of publication
2005
Drugs