DisGeNET - a database of gene-disease associations

HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED, C4746970

Variant: rs1556323334 ×

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:

rs1556323334

ATP11C

0.800

GeneticVariation

UNIPROT

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

26944472

2016

dbSNP:

rs1556323334

ATP11C

0.800

GeneticVariation

CLINVAR

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

26944472

2016

dbSNP:

rs1556323334

ATP11C

0.800

CausalMutation

CLINVAR