Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. 25447930

2015
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536

2015
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656

2014
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR The expanding clinical and genetic spectrum of ATP1A3-related disorders. 24523486

2014
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174

2014
dbSNP: rs398122887
rs398122887
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012