DisGeNET - a database of gene-disease associations

ATP8A2, ATPase phospholipid transporting 8A2, 51761

N. diseases: 55; N. variants: 43

Disease: Sarcoidosis ×

Variant: rs9511939 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs9511939

Entrez Id:	51761
Gene Symbol:	ATP8A2

ATP8A2

CUI:	C0036202
Disease:

Sarcoidosis

0.700

GeneticVariation

GWASDB

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

22952805

2012