Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2016

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2016

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2016

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 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

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2016

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2016

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25656163

2015

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 24996492

2015

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 26297560

2015

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Distinct neurological disorders with ATP1A3 mutations. 24739246

2014

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 22924536

2013

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Psychiatric disorders in rapid-onset dystonia-parkinsonism. 22933743

2012

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 22534615

2012

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527

2012

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145

2009

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 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

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004

dbSNP: rs1064797245
rs1064797245
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 CausalMutation CLINVAR Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 11020638

2000