rs1553245943, ATP1A2

N. diseases: 2
Disease: Overgrowth ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. 25138102 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 20837964 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 17473835 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR ATP1A2 mutations in 11 families with familial hemiplegic migraine. 16088919 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Familial basilar migraine associated with a new mutation in the ATP1A2 gene. 16344534 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 15286158 2004
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 15174025 2004
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 14667076 2003
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 1361034 1992