DisGeNET - a database of gene-disease associations

Primary biliary cirrhosis, C0008312

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434254

AIRE

0.010

GeneticVariation

BEFREE

Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein.

11343230

2001

dbSNP:

rs1045642

ABCB1

0.010

GeneticVariation

BEFREE

We analyzed genomic DNA from 169 patients with PBC and 225 geographically and sex-matched healthy subjects for polymorphisms of genes coding for cytochromes P450 (CYPs) 2D6 (CYP2D6*4, CYP2D6*3, CYP2D6*5, and CYP2D6*6) and 2E1 (cl/c2), multidrug resistance 1 (MDR1 C3435T) P-glycoprotein, and pregnane X receptor (PXR C-25385T, C8055T, and A7635G).

15690482

2005

dbSNP:

rs2476601

PTPN22 ; AP4B1-AS1

0.020

GeneticVariation

BEFREE

We studied 160 Caucasian patients with biopsy and antimitochondrial antibodies (AMA)-proven PBC who were genotyped for the PTPN22(C1858T) SNP using a single-base primer extension assay and mass spectrometry.

16671954

2006

dbSNP:

rs231725

0.070

GeneticVariation

BEFREE

We identified a novel and relatively strong association between PBC and rs231725, a SNP in the 3' flanking region of CTLA4 located outside of the area previously investigated in PBC.

18778710

2008

dbSNP:

rs1149222

ABCB4

0.010

GeneticVariation

BEFREE

Subsequently, haplotypes were constructed from three tag SNPs (rs31658, rs31672, and rs1149222) that were significantly associated with progression of PBC.

18671305

2008

dbSNP:

rs1799971

OPRM1

0.010

GeneticVariation

BEFREE

In this study we found A118G in heterozygosity in 29% of the DNA samples from patients with primary biliary cirrhosis from the USA and from Italy with and without pruritus.

18709298

2008

dbSNP:

rs31672

ABCB4

0.010

GeneticVariation

BEFREE

Subsequently, haplotypes were constructed from three tag SNPs (rs31658, rs31672, and rs1149222) that were significantly associated with progression of PBC.

18671305

2008

dbSNP:

rs10488631

TNPO3

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs10488631

TNPO3

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs2395148

TSBP1 ; TSBP1-AS1

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs2395148

TSBP1 ; TSBP1-AS1

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs2395148

TSBP1 ; TSBP1-AS1

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs2856683

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs2856683

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs3135363

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs3135363

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs3790567

IL12RB2

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs3790567

IL12RB2

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs4679904

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs4679904

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs6441286

IL12A-AS1

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs6441286

IL12A-AS1

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs9357152

0.800

GeneticVariation

GWASDB

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs9357152

0.800

GeneticVariation

GWASCAT

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

19458352

2009

dbSNP:

rs17268364

0.010

GeneticVariation

BEFREE

Significant associations of multiple CTLA4 and ICOS gene polymorphisms with RA and PBC were observed, with the strongest association signals for both diseases coming from a CTLA4/ICOS intergenic single-nucleotide polymorphism, rs17268364 (corrected P [P(corr)] = 6.0 x 10(-4) and P(corr) < 1.0 x 10(-4), respectively).

19333938

2009