Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 11020638

2000
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Psychiatric disorders in rapid-onset dystonia-parkinsonism. 22933743

2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 11020638

2000
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Alternating hemiplegia of childhood. 8496742

1993
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012