Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 GeneticVariation CLINVAR ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 24842602

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. 25523819

2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 27726050

2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review]. 28441826

2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. 29066118

2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. 22842232

2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. 20576601

2010
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR The expanding clinical and genetic spectrum of ATP1A3-related disorders. 24523486

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536

2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136

2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. 17516473

2007