Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 24842602

2014
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 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: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. 20576601

2010
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145

2009
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR