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 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 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: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		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 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
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: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		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: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		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 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 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 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: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.800 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 CausalMutation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
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 The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. 25447930

2015
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 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
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 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 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 Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. 25056583

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 GeneticVariation 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 Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656

2014