Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Psychiatric disorders in rapid-onset dystonia-parkinsonism. 22933743

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 22924536

2013

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 26297560

2015

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2015

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 26297560

2015

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25656163

2015

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 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: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Psychiatric disorders in rapid-onset dystonia-parkinsonism. 22933743

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. 2842249

1988

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 11020638

2000

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014