Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. 27835968 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group BEFREE Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. 23893446 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group BEFREE It was found that partial selective pharmacological block of the sodium pumps in the cerebellum and basal ganglia of mice recapitulates all of the salient features of DYT12, including dystonia and parkinsonism induced by stress. 22422472 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group BEFREE The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium-potassium pump (Na(+)/K(+)-ATPase). 22067897 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 GeneticVariation group BEFREE A common ATP1A3 genomic variation may represent a susceptibility factor for the risk for antipsychotic-induced parkinsonism in an allele-dependent manner. 21072501 2011
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RPD, DYT12) is a rare disorder with an abrupt onset of symptoms over minutes to days, prominent bulbar involvement and parkinsonism with a lack of response to levodopa. 20590807 2010
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. 17282997 2007
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group CTD_human Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. 15260953 2004
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group LHGDN Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. 15260953 2004
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. 15260953 2004
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.480 Biomarker group HPO