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 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145

2009
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 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 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR AHC and rapid-onset dystonia-parkinsonism are allelic diseases related to mutations in ATP1A3 and form a phenotypical continuum of a dystonic movement disorder. 22850527

2012
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 Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. 17595045

2007
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation 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 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 Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking. 20558373

2010
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. 29397530

2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 27268479

2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 GeneticVariation CLINVAR Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 27268479

2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 GeneticVariation 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 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 GeneticVariation CLINVAR De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 27634470

2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 27634470

2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Genotype-phenotype correlations in alternating hemiplegia of childhood. 24431296

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
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 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 GeneticVariation 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 Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 27726050

2017