Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059

2017

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 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

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834

2014

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 20837964

2010

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 17473835

2007

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR ATP1A2 mutations in 11 families with familial hemiplegic migraine. 16088919

2005

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Familial basilar migraine associated with a new mutation in the ATP1A2 gene. 16344534

2005

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 15286158

2004

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 15174025

2004

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 14667076

2003

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 1361034

1992