Gene: ATP1A3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017
dbSNP: rs80356537
rs80356537
ATP1A3
T 0.700 CausalMutation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017
dbSNP: rs80356537
rs80356537
ATP1A3
T 0.700 CausalMutation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 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
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 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
dbSNP: rs80356537
rs80356537
ATP1A3
T 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: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 26297560

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25656163

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
dbSNP: rs1555859593
rs1555859593
ATP1A3
T 0.700 GeneticVariation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 26297560

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2015
dbSNP: rs797044897
rs797044897
ATP1A3
C 0.700 GeneticVariation CLINVAR Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25656163

2015
dbSNP: rs80356537
rs80356537
ATP1A3
T 0.700 CausalMutation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015
dbSNP: rs80356537
rs80356537
ATP1A3
T 0.700 CausalMutation CLINVAR CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25895915

2015