DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: ABCB11 ×

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:

rs121908935

ABCB11

CUI:	C2608083
Disease:	Cholestasis, benign recurrent intrahepatic 2

Cholestasis, benign recurrent intrahepatic 2

0.810

GeneticVariation

UNIPROT

The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively.

16039748

2005

dbSNP:

rs121908935

ABCB11

CUI:	C2608083
Disease:	Cholestasis, benign recurrent intrahepatic 2

Cholestasis, benign recurrent intrahepatic 2

0.810

GeneticVariation

UNIPROT

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

15300568

2004

dbSNP:

rs72549395

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

24969679

2014

dbSNP:

rs72549395

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

11815775

2002

dbSNP:

rs72549395

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

10579978

1999

dbSNP:

rs72549395

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

9806540

1998

dbSNP:

rs72549402

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

24969679

2014

dbSNP:

rs72549402

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

11815775

2002

dbSNP:

rs72549402

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

10579978

1999

dbSNP:

rs72549402

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

GeneticVariation

UNIPROT

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

9806540

1998

dbSNP:

rs1274558905

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs369860506

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

24969679

2014

dbSNP:

rs369860506

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

11815775

2002

dbSNP:

rs369860506

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

10579978

1999

dbSNP:

rs369860506

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

9806540

1998

dbSNP:

rs376216286

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72549394

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

24969679

2014

dbSNP:

rs72549394

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

11815775

2002

dbSNP:

rs72549394

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

10579978

1999

dbSNP:

rs72549394

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

9806540

1998

dbSNP:

rs72549398

ABCB11

CUI:	C2608083
Disease:	Cholestasis, benign recurrent intrahepatic 2

Cholestasis, benign recurrent intrahepatic 2

0.700

GeneticVariation

UNIPROT

Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.

16039748

2005

dbSNP:

rs72549398

ABCB11

CUI:	C2608083
Disease:	Cholestasis, benign recurrent intrahepatic 2

Cholestasis, benign recurrent intrahepatic 2

0.700

GeneticVariation

UNIPROT

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

15300568

2004

dbSNP:

rs72549399

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

24969679

2014

dbSNP:

rs72549399

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

11815775

2002

dbSNP:

rs72549399

ABCB11

CUI:	C3489789
Disease:	Cholestasis, Progressive Familial Intrahepatic, 2

Cholestasis, Progressive Familial Intrahepatic, 2

0.700

GeneticVariation

UNIPROT

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

10579978

1999