Annotation Detail
Information
- Associated Genes
- DRD2
- Associated Variants
-
ANKK1 p.Glu713Lys (p.E713K)
(
ENST00000303941.4 )
DRD2 c.*52G>A ( ENST00000542968.5, ENST00000538967.5, ENST00000362072.8, ENST00000346454.7, ENST00000544518.5 )
DRD2 p.Pro319= (p.P319=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 )
DRD2 c.*52G>A ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Pro319= (p.P319=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 ) - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497) in the human DRD2 gene are associated with decreased D2R expression and function, as well as high blood pressure.
- Pubmed
- 24379187
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121628651232482
- Year of publication
- 2014
Drugs