DRD1, dopamine receptor D1, 1812

N. diseases: 181; N. variants: 8
Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.020 GeneticVariation group BEFREE While our meta-analyses pinpointed several association signals with variants in TOR1A, DRD1, and ARSG, no single variant displayed compelling association with dystonia in the available data. 30100364 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.020 GeneticVariation group BEFREE Two rare missense variants in DRD1 were found: c.68G>A(p.Arg23His) in the screening group and c.776C>A(p.Ser259Tyr) in an additional screen of 15 selected dystonia patients. 24768614 2014