Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933399
rs28933399
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		C 0.810 CausalMutation CLINVAR

dbSNP: rs28933398
rs28933398
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28933400
rs28933400
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28933401
rs28933401
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28934002
rs28934002
ATP1A2
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121918612
rs121918612
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		A 0.720 CausalMutation CLINVAR

dbSNP: rs1165052640
rs1165052640
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918613
rs121918613
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918614
rs121918614
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918615
rs121918615
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918615
rs121918615
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918616
rs121918616
ATP1A2
CUI: C1865323
Disease: Migraine, Familial Basilar
Migraine, Familial Basilar 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918617
rs121918617
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121918620
rs121918620
ATP1A2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1226796744
rs1226796744
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs149144720
rs149144720
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		A 0.700 GeneticVariation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013

2014
dbSNP: rs149144720
rs149144720
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		A 0.700 GeneticVariation CLINVAR De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 20837964

2010
dbSNP: rs149144720
rs149144720
ATP1A2
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		A 0.700 GeneticVariation CLINVAR Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 19874388

2009
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059

2017
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 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
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834

2014
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 20837964

2010
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 17473835

2007
dbSNP: rs1553245178
rs1553245178
ATP1A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR ATP1A2 mutations in 11 families with familial hemiplegic migraine. 16088919

2005