DRD3, dopamine receptor D3, 1814

N. diseases: 199; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Therapeutic disease RGD Pramipexole at a Low Dose Induces Beneficial Effect in the Harmaline-induced Model of Essential Tremor in Rats. 26459182 2016
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE We analyzed in ET Spanish families three single nucleotide polymorphisms (SNPs): DRD3 rs6280, SLC1A2 rs3794087, and MAPT rs1052553) previously related to an increased risk for developing the disease. 27456607 2016
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE In conclusion, the present meta-analysis does not support the notion that the DRD3 Ser9Gly variant is a genetic risk factor for ET. 24054403 2013
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (FUS/TLS) was identified by exome sequencing. 23114103 2013
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE Recently, an association between the dopamine D(3) receptor (DRD3) Ser9Gly polymorphism and ET has been reported. 20434388 2010
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET). 19524641 2009
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET. 19092771 2009
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE These results suggest that DRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with the risk for voice tremor, in Caucasian Spanish people. 19645064 2009
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). 17703985 2008
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease LHGDN Reappraisal of the role of the DRD3 gene in essential tremor. 18316228 2008
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE Our comprehensive genetic analysis in a large ET cohort strongly argues against the role of the DRD3 gene in ET pathogenesis. 18316228 2008
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease LHGDN DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients. 18484990 2008
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE These results do not support an association between DRD3 Ser9Gly and susceptibility to ET in Italian patients. 18484990 2008
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease LHGDN A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. 16809426 2006
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. 16721753 2006
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE The gain-of-function produced by the Gly-9 variant may explain why drugs active against tremor in Parkinson's disease (PD) are usually not effective in the treatment of ET and suggests that DRD3 partial agonists or antagonists should be considered as novel therapeutic options for patients with ET. 16809426 2006
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE Genetic linkage studies have identified two susceptibility loci for essential tremor (ET) on chromosomes 3q13 (ETM1) and 2p24.1 (ETM2). 15699368 2005
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 Biomarker disease BEFREE The examined loci were PARK3, Parkin, DRD (dopa-responsive dystonia), FET1 (familial essential tremor), BDNF (brain-derived neurotrophic factor), GDNF (glial cell line-derived neurotrophic factor), Ret, DAT1 (the dopamine transporter), Nurr1 and Synphilin-1. 12882651 2003
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.300 GeneticVariation disease BEFREE We now report evidence for linkage to the ETM locus in three additional, unrelated American families with ET and exclude the FET1 locus in these families. 9827627 1998