Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
DRD2 p.Pro319= (p.P319=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000538967.5, ENST00000346454.7, ENST00000362072.8, ENST00000542968.5, ENST00000544518.5 )
TPH1 c.803+221C>A ( ENST00000250018.6, ENST00000682019.1, ENST00000528338.2, ENST00000714230.1 )
rs1019385
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
DTNBP1 c.161+1715G>A ( ENST00000338950.9, ENST00000344537.10, ENST00000355917.7, ENST00000622898.4 )
DRD2 p.Pro319= (p.P319=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
TPH1 c.803+221C>A ( ENST00000250018.6, ENST00000528338.2, ENST00000682019.1, ENST00000714230.1 )
rs1019385
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
DTNBP1 c.161+1715G>A ( ENST00000338950.9, ENST00000344537.10, ENST00000355917.7, ENST00000622898.4 )
Associated Disease
Drug habituation
Source Database
DisGeNET
Description
According to this practical and scientific demand, we aimed to investigate the relationship between seven top-ranked variants in the SZgene database [120-bpTR in DRD4, rs1801028 and rs6277 in DRD2, rs1019385 (T200G) in GRIN2B, rs1800532 in TPH1, rs1801133 (C677T) in MTHFR, rs2619528 (P1765) in DTNBP1] and prepulse inhibition (PPI) and habituation after acoustic stimulus (HAB).
Pubmed
20421849
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2010
Drugs