DRD2, dopamine receptor D2, 1813

N. diseases: 437; N. variants: 42
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 AlteredExpression phenotype BEFREE RGS9-2 rescues dopamine D2 receptor levels and signaling in <i>DYT1</i> dystonia mouse models. 30552094 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype BEFREE Strength of cholinergic tone dictates the polarity of dopamine D2 receptor modulation of striatal cholinergic interneuron excitability in DYT1 dystonia. 28587876 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype BEFREE Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. 27696930 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype BEFREE Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia. 21912682 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype LHGDN Striatal dopaminergic system in dopa-responsive dystonia: a multi-tracer PET study shows increased D2 receptors. 14714216 2004
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype BEFREE Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders. 10220438 1999
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype BEFREE Mutational and biochemical analysis of dopamine in dystonia: evidence for decreased dopamine D2 receptor inhibition. 9588625 1998