Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777771
rs587777771
ATP1A3
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		T 0.870 CausalMutation CLINVAR

dbSNP: rs80356535
rs80356535
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		C 0.810 CausalMutation CLINVAR

dbSNP: rs80356537
rs80356537
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536

2015
dbSNP: rs80356537
rs80356537
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174

2014
dbSNP: rs80356537
rs80356537
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in alternating hemiplegia of childhood. 24431296

2014
dbSNP: rs80356537
rs80356537
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.810 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012
dbSNP: rs80356537
rs80356537
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
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
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.810 CausalMutation CLINVAR

dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs534926223
rs534926223
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs536681257
rs536681257
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs542652468
rs542652468
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs542652468
rs542652468
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs549006436
rs549006436
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs557052809
rs557052809
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs557052809
rs557052809
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs606231427
rs606231427
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs606231428
rs606231428
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs606231430
rs606231430
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		A 0.800 CausalMutation CLINVAR