Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
0.100 Biomarker disease HPO
Entrez Id: 5993
Gene Symbol: RFX5
RFX5
0.100 Biomarker disease HPO
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP
0.100 Biomarker disease HPO
Entrez Id: 8625
Gene Symbol: RFXANK
RFXANK
0.100 Biomarker disease HPO
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
0.100 Biomarker disease HPO
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 GeneticVariation disease LHGDN p16INK4a promoter mutations are frequent in primary sclerosing cholangitis (PSC) and PSC-associated cholangiocarcinoma. 12360471 2002
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: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. 12783301 2003
Entrez Id: 84324
Gene Symbol: SARNP
SARNP
0.010 Biomarker disease BEFREE Eight patients had died at the time of their entry into the Registry; 2 of pneumonia (1 P. carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome. 14663287 2003
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 GeneticVariation disease LHGDN Susceptibility to primary sclerosing cholangitis is associated with polymorphisms of intercellular adhesion molecule-1. 15123348 2004
Entrez Id: 1234
Gene Symbol: CCR5
CCR5
0.010 GeneticVariation disease LHGDN 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: 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: 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: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.020 Biomarker disease LHGDN The association of HLA-DR13 with lower graft survival rates in hepatitis B and primary sclerosing cholangitis Caucasian patients receiving a liver transplant. 16555323 2006
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.320 Biomarker disease BEFREE Because MDR2 (rodent orthologue of human MDR3) knockout mice develop sclerosing cholangitis, it is attractive to speculate that MDR3 defects could also play an important role in cholangiopathies in humans. 17295178 2007
Entrez Id: 3811
Gene Symbol: KIR3DL1
KIR3DL1
0.010 Biomarker disease LHGDN Particular genetic variants of ligands for natural killer cell receptors may contribute to the HLA associated risk of primary sclerosing cholangitis. 17383044 2007
Entrez Id: 6352
Gene Symbol: CCL5
CCL5
0.010 GeneticVariation disease LHGDN The RANTES -28 g polymorphism is associated with primary sclerosing cholangitis. 17519498 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 GeneticVariation disease LHGDN What is the role of cystic fibrosis transmembrane conductance regulator dysfunction in primary sclerosing cholangitis? 17719926 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function. 17719933 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis. 18992954 2009
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: 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: 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: 541471
Gene Symbol: MIR4435-2HG
MIR4435-2HG
0.100 GeneticVariation disease GWASCAT Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
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