Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Cognitive impairment in rapid-onset dystonia-parkinsonism. 24436111

2014
dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015