DisGeNET - a database of gene-disease associations

ABCB1, ATP binding cassette subfamily B member 1, 5243

N. diseases: 933; N. variants: 59

Disease: COLCHICINE RESISTANCE ×

Variant: rs1128501 ×

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:

rs1128501

rs1128501

Entrez Id:	5243
Gene Symbol:	ABCB1

ABCB1

CUI:	C1861502
Disease:

COLCHICINE RESISTANCE

A

0.700

CausalMutation

CLINVAR