DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Variant: rs797044897 ×

Source: ALL

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:

rs797044897

rs797044897

ATP1A3

C

0.700

GeneticVariation

CLINVAR

Alternating hemiplegia of childhood.

1993

dbSNP:

rs797044897

rs797044897

ATP1A3

C

0.700

GeneticVariation

CLINVAR

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

1988