rs398122887, ATP1A3

N. diseases: 8
Disease: DYSTONIA 12 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.700 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536 2015
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
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
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.700 CausalMutation CLINVAR Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174 2014
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.700 CausalMutation CLINVAR The expanding clinical and genetic spectrum of ATP1A3-related disorders. 24523486 2014
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.700 CausalMutation CLINVAR Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656 2014
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.700 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012