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 CausalMutation CLINVAR Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation 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 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 GeneticVariation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 22534615

2012

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation 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 CausalMutation 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 Alternating hemiplegia of childhood. 8496742

1993

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation 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 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation 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 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 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 multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017

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

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. 8496742

1993

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. 16632466

2006

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation 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 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014