rs387907281, ATP1A3

N. diseases: 13
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
0.710 GeneticVariation BEFREE Several mutations such as the relatively common p.E815K pathogenic variant have been shown to strongly correlate with AHC, while others may cause both AHC and RDP. 29801192 2018
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.710 CausalMutation CLINVAR A functional correlate of severity in alternating hemiplegia of childhood. 25681536 2015
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.710 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
0.710 CausalMutation CLINVAR Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136 2013
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.710 CausalMutation CLINVAR Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527 2012
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
0.710 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012