DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Gene: ATP1A2 ×

Source: CLINVAR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

28811059

2017

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs1553245943

ATP1A2

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

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

23918834

2014

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

20837964

2010

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

17473835

2007

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

16344534

2005

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

16088919

2005

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

15286158

2004

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

15174025

2004

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

14667076

2003

dbSNP:

rs1553245943

ATP1A2

0.700

GeneticVariation

CLINVAR

A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

1361034

1992