Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE Here, we investigated whether Nrf2 protects from sclerosing cholangitis and biliary fibrosis and simultaneously induces liver regeneration. 30825315 2019
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 Biomarker disease BEFREE Here, we investigated whether Nrf2 protects from sclerosing cholangitis and biliary fibrosis and simultaneously induces liver regeneration. 30825315 2019
Entrez Id: 113220
Gene Symbol: KIF12
KIF12
0.010 GeneticVariation disease BEFREE KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis. 30250217 2019
Entrez Id: 2875
Gene Symbol: GPT
GPT
0.010 AlteredExpression disease BEFREE When retested on a gluten-free diet, all but 3 patients normalized ALT levels; of these, 1 was diagnosed with sclerosing cholangitis. 30499881 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.010 Biomarker disease BEFREE To generalize these observations, we suppressed β-catenin in Mdr2 knockout (KO) mice, which develop sclerosing cholangitis due to regurgitation of BA from leaky ducts. 31489648 2019
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: 729230
Gene Symbol: CCR2
CCR2
0.010 GeneticVariation disease BEFREE Pharmacological inhibition of monocyte recruitment by CVC treatment or CCR2 genetic deletion attenuated macrophage accumulation, liver injury and fibrosis in acute SC. 29802947 2018
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.010 Biomarker disease BEFREE Complication-free survival did not differ between SC/IBD and SC patients, but survival was longer in patients without autoimmune features. 29316057 2018
Entrez Id: 140805
Gene Symbol: HT
HT
0.010 Biomarker disease BEFREE We report a case of autoimmune pancreatitis that was further found to be associated with Hashimoto's thyroiditis and sclerosing cholangitis. 30027016 2018
Entrez Id: 8743
Gene Symbol: TNFSF10
TNFSF10
0.010 Biomarker disease BEFREE We hypothesized that if endogenous TRAIL promotes sclerosing cholangitis, then cIAP depletion should also induce this biliary tract injury. 28055006 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.010 GeneticVariation disease BEFREE Chronic sclerosing cholangitis was mimicked using the ATP-binding cassette transporter B4 knockout <i>(Abcb4</i> <sup>-/-</sup>) mouse model. 28194423 2017
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: 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: 151306
Gene Symbol: GPBAR1
GPBAR1
0.010 Biomarker disease BEFREE TGR5: pathogenetic role and/or therapeutic target in fibrosing cholangitis? 25138774 2015
Entrez Id: 50674
Gene Symbol: NEUROG3
NEUROG3
0.010 Biomarker disease BEFREE In vivo, wild-type and Ngn-3-heterozygous (+/-) mice were subjected to 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC) feeding (a model of sclerosing cholangitis) or bile duct ligation (BDL). 24925797 2014
Entrez Id: 3280
Gene Symbol: HES1
HES1
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: 1644
Gene Symbol: DDC
DDC
0.010 Biomarker disease BEFREE In vivo PDX-1-heterozygous (+/-) mice were subjected to either DDC feeding (a model of sclerosing cholangitis) or to bile duct ligation (BDL). 23207146 2013
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: 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: 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: 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 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