Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is caused by the single mutation E818K of the α3-isoform of Na<sup>+</sup>,K<sup>+</sup>-ATPase. 30409907 2019
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. 30904181 2019
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE The genetic testing revealed a de novo heterozygous mutation of c.2452G > A (p.Glu818Lys) in the ATP1A3 gene, which was compatible with the clinical phenotype of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss)/CAOS syndrome. 29625811 2018
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE Interestingly, two patients (mother and son) showed a variant c.2266C>T (p.R756C), while the third carried the c.2452G>A (p.E818K) variant, commonly described in association with CAPOS syndrome. 29397530 2018
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome. 29184165 2017
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223 2016
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation BEFREE This study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds. 26453127 2015
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		0.870 GeneticVariation UNIPROT A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074 2014
dbSNP: rs587777771
rs587777771
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1832466
Disease:
CAPOS syndrome 		T 0.870 CausalMutation CLINVAR
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation BEFREE Position D801 in the α3 isoform is a mutational hotspot, with the D801N, D801E and D801V mutations causing AHC and the D801Y mutation causing RDP or mild AHC. 27549929 2016
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222 2015
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. 25523819 2015
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536 2015
dbSNP: rs80356535
rs80356535
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation BEFREE Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. 24803225 2014
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 24842602 2014
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656 2014
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in alternating hemiplegia of childhood. 24431296 2014
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174 2014
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136 2013
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 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: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
dbSNP: rs80356535
rs80356535
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation UNIPROT A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. 19351654 2009
dbSNP: rs80356535
rs80356535
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation UNIPROT Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145 2009
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation UNIPROT Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145 2009
dbSNP: rs80356537
rs80356537
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1868681
Disease:
DYSTONIA 12 		0.810 GeneticVariation UNIPROT A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. 19351654 2009