DisGeNET - a database of gene-disease associations

ABCB7, ATP binding cassette subfamily B member 7, 22

N. diseases: 49; N. variants: 7

Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA ×

Variant: rs80356714 ×

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:

rs80356714

rs80356714

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

CUI:	C1845028
Disease:

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs80356714

rs80356714

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

CUI:	C1845028
Disease:

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

0.800

GeneticVariation

UNIPROT