DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

GeneticVariation

CLINVAR

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

27726050

2017

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

GeneticVariation

CLINVAR

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

27634470

2016

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

GeneticVariation

CLINVAR

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

27268479

2016

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

GeneticVariation

CLINVAR

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

26400718

2015

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

24631656

2014

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

23409136

2013

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

22850527

2012

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

22842232

2012

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.610

CausalMutation

CLINVAR

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

15260953

2004