DisGeNET - a database of gene-disease associations

ATP11C, ATPase phospholipid transporting 11C, 286410

N. diseases: 15; N. variants: 1

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:

rs1556323334

Entrez Id:	286410
Gene Symbol:	ATP11C

ATP11C

CUI:	C4746970
Disease:

HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED

0.800

GeneticVariation

UNIPROT

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.

26944472

2016

dbSNP:

rs1556323334

Entrez Id:	286410
Gene Symbol:	ATP11C

ATP11C

CUI:	C4746970
Disease:

HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED

0.800

GeneticVariation

CLINVAR

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.

26944472

2016

dbSNP:

rs1556323334

Entrez Id:	286410
Gene Symbol:	ATP11C

ATP11C

CUI:	C4746970
Disease:

HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED

0.800

CausalMutation

CLINVAR

dbSNP:

rs1556323334

Entrez Id:	286410
Gene Symbol:	ATP11C

ATP11C

CUI:	C0002881
Disease:

Anemia, Hemolytic, Congenital

0.010

GeneticVariation

BEFREE

ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.

31253392

2019