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: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 CausalMutation CLINVAR

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		0.610 CausalMutation CLINVAR

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.410 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.200 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: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013

2014
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 CausalMutation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013

2014
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.200 GeneticVariation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013

2014
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation CLINVAR Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. 21352219

2011
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 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: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 CausalMutation CLINVAR Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 19874388

2009
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation CLINVAR Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 19874388

2009
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.200 GeneticVariation CLINVAR Crystal structure of the sodium-potassium pump at 2.4 A resolution. 19458722

2009
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.200 GeneticVariation CLINVAR Epilepsy as part of the phenotype associated with ATP1A2 mutations. 18028407

2008
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1865323
Disease: Migraine, Familial Basilar
Migraine, Familial Basilar 		0.110 CausalMutation CLINVAR

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.100 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834

2014