DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CAPOS syndrome ×

Variant: rs1064797245 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1064797245

ATP1A3

CUI:	C1832466
Disease:	CAPOS syndrome

CAPOS syndrome

0.710

GeneticVariation

CLINVAR

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

27726050

2017

dbSNP:

rs1064797245

ATP1A3

CUI:	C1832466
Disease:	CAPOS syndrome

CAPOS syndrome

0.710

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

dbSNP:

rs1064797245

ATP1A3

CUI:	C1832466
Disease:	CAPOS syndrome

CAPOS syndrome

0.710

GeneticVariation

CLINVAR

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

27268479

2016

dbSNP:

rs1064797245

ATP1A3

CUI:	C1832466
Disease:	CAPOS syndrome

CAPOS syndrome

0.710

GeneticVariation

CLINVAR

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

26400718

2015