Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR The expanding clinical and genetic spectrum of ATP1A3-related disorders. 24523486

2014
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. 22534615

2012
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. 17282997

2007
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. 17595045

2007
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. 17516473

2007
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.800 CausalMutation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004