DisGeNET - a database of gene-disease associations

ATP6AP1, ATPase H+ transporting accessory protein 1, 537

N. diseases: 38; N. variants: 5

Disease: IMMUNODEFICIENCY 47 ×

Variant: rs878853275 ×

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:

rs878853275

Entrez Id:	537;2664
Gene Symbol:	ATP6AP1;GDI1

ATP6AP1;GDI1

CUI:	C4310819
Disease:

IMMUNODEFICIENCY 47

0.800

GeneticVariation

UNIPROT

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

27231034

2016

dbSNP:

rs878853275

Entrez Id:	537;2664
Gene Symbol:	ATP6AP1;GDI1

ATP6AP1;GDI1

CUI:	C4310819
Disease:

IMMUNODEFICIENCY 47

0.800

CausalMutation

CLINVAR