DisGeNET - a database of gene-disease associations

ABCB11, ATP binding cassette subfamily B member 11, 8647

N. diseases: 126; N. variants: 82

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:

rs121908935

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C2608083
Disease:

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

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C2608083
Disease:

Cholestasis, benign recurrent intrahepatic 2

0.810

GeneticVariation

BEFREE

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

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C2608083
Disease:

Cholestasis, benign recurrent intrahepatic 2

0.810

GeneticVariation

UNIPROT

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

15300568

2004

dbSNP:

rs121908935

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C2608083
Disease:

Cholestasis, benign recurrent intrahepatic 2

0.810

CausalMutation

CLINVAR

dbSNP:

rs2287623

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs853789

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.800

GeneticVariation

GWASCAT

Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

29743933

2018

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

26678486

2015

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

25847299

2015

dbSNP:

rs72549395

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

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

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

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:

rs2287623

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs2287623

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs853789

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.800

GeneticVariation

GWASDB

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

22885924

2012

dbSNP:

rs16856332

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0201850
Disease:

Alkaline phosphatase measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

22001757

2011

dbSNP:

rs16856332

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0201850
Disease:

Alkaline phosphatase measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

22001757

2011

dbSNP:

rs569805

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0524620
Disease:

Metabolic Syndrome X

0.800

GeneticVariation

GWASCAT

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

21386085

2011

dbSNP:

rs569805

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0524620
Disease:

Metabolic Syndrome X

0.800

GeneticVariation

GWASDB

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

21386085

2011

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

19101985

2009

dbSNP:

rs563694

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.800

GeneticVariation

GWASCAT

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

18521185

2008

dbSNP:

rs563694

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.800

GeneticVariation

GWASDB

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

18521185

2008

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

18395098

2008

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

17855769

2007

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

15791618

2005

dbSNP:

rs72549402

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

Cholestasis, Progressive Familial Intrahepatic, 2

0.800

CausalMutation

CLINVAR

These data suggest that PFIC-2 patients with the D482G mutation express a functional, but highly unstable, temperature-sensitive bile salt export pump.

14672610

2004

dbSNP:

rs72549395

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C3489789
Disease:

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