DisGeNET - a database of gene-disease associations

Gene: ABCB11 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C4551898
Disease:	Cholestasis, progressive familial intrahepatic 1

Cholestasis, progressive familial intrahepatic 1

0.400

Biomarker

CTD_human

Itraconazole-induced cholestasis: involvement of the inhibition of bile canalicular phospholipid translocator MDR3/ABCB4.

2011