Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
0.010 GeneticVariation disease BEFREE CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome. 28073151 2017
Entrez Id: 1234
Gene Symbol: CCR5
CCR5
0.010 GeneticVariation disease BEFREE Similarly, CCR5-Delta32 allele frequency was significantly higher in sclerosing cholangitis (17.6%) compared to controls (9.9%, OR 2.47, P=0.007) and inflammatory bowel disease patients without sclerosing cholangitis (11.3%, OR 1.9, P=0.027). 15215889 2004
Entrez Id: 953
Gene Symbol: ENTPD1
ENTPD1
0.010 AlteredExpression disease BEFREE Here, we investigated the role of macrophage-expressed CD39 on the development of biliary injury and fibrosis in a mouse model of sclerosing cholangitis. 31243614 2019
Entrez Id: 11343
Gene Symbol: MGLL
MGLL
0.010 Biomarker disease BEFREE To this aim we analyzed the effects of 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC) feeding to induce SC in wild type (WT) and knockout (MGL<sup>-/-</sup> ) mice and tested pharmacological inhibition with JZL184 in the Mdr2<sup>-/-</sup> mouse model of SC. 31505038 2019
Entrez Id: 102724023
Gene Symbol: GATD3B
GATD3B
0.010 Biomarker disease BEFREE PDX-1/Hes-1 interactions determine cholangiocyte proliferative response to injury in rodents: possible implications for sclerosing cholangitis. 23207146 2013
Entrez Id: 100653366
Gene Symbol: PSC
PSC
0.010 GeneticVariation disease BEFREE There is increased interest and recognition of the clinical variants of Sclerosing Cholangitis (SC) namely IgG4-SC, PSC/AIH overlap and PSC. 28564616 2017
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
0.010 Biomarker disease BEFREE Wild-type and Nlrp3 knockout (Nlrp3<sup>-/-</sup>) mice were fed 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC; a model of sclerosing cholangitis) for 4 weeks. 27912077 2017
Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
0.400 Biomarker disease CTD_human Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
0.400 Biomarker disease CTD_human Cytokine-stimulated nitric oxide production inhibits adenylyl cyclase and cAMP-dependent secretion in cholangiocytes. 12612912 2003
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.400 Biomarker disease CTD_human Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.320 Biomarker disease CTD_human Galunisertib modifies the liver fibrotic composition in the Abcb4Ko mouse model. 29808285 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.320 Biomarker disease CTD_human Multidrug resistance gene 2 knockout mice (Mdr2(-/-)) represent a well-characterized model for sclerosing cholangitis. 16472600 2006
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.300 Biomarker disease CTD_human Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1α protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis. 22271822 2012
Entrez Id: 10018
Gene Symbol: BCL2L11
BCL2L11
0.300 Biomarker disease CTD_human Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
0.400 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.400 GeneticVariation disease GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
0.400 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
0.400 GeneticVariation disease GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.400 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.400 GeneticVariation disease GWASCAT Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 23603763 2013
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.400 GeneticVariation disease GWASCAT Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
Entrez Id: 8209
Gene Symbol: GATD3A
GATD3A
0.110 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
0.100 GeneticVariation disease GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
0.100 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Entrez Id: 101927774
Gene Symbol: LINC00824
LINC00824
0.100 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016