rs1553245943, ATP1A2

N. diseases: 2
Disease: Hemiplegic migraine, familial type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.700 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.700 GeneticVariation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013 2014
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.700 GeneticVariation CLINVAR Crystal structure of the sodium-potassium pump at 2.4 A resolution. 19458722 2009
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.700 GeneticVariation CLINVAR Epilepsy as part of the phenotype associated with ATP1A2 mutations. 18028407 2008