DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Gene: ATP1A3 ×

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

0.100

GeneticVariation

group

CLINVAR

Alternating hemiplegia of childhood.

1993

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

0.100

GeneticVariation

group

CLINVAR

Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

1988