Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 SusceptibilityMutation ORPHANET

Entrez Id: 4843
Gene Symbol: NOS2
NOS2
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 Biomarker RGD Ammonia reduction with ornithine phenylacetate restores brain eNOS activity via the DDAH-ADMA pathway in bile duct-ligated cirrhotic rats. 21903766

2012
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 Biomarker CTD_human Hepatoprotective effects of diosmin and/or sildenafil against cholestatic liver cirrhosis: The role of Keap-1/Nrf-2 and P38-MAPK/NF-κB/iNOS signaling pathway. 30026087

2018
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 Biomarker CTD_human Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 20639879

2010
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation GWASCAT POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. 30643196

2019
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 Biomarker BEFREE Furthermore, significantly increased TL1A had been detected in liver tissues and mononuclear cells of patients with primary biliary cirrhosis (PBC). 30906791

2019
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 SusceptibilityMutation ORPHANET Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 Biomarker BEFREE TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases. 26084578

2015
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation BEFREE Along with corroborating known PBC-associated loci (TNFSF15, HLA-DRA), risk haplotypes may potentially model cis-interactions that regulate gene expression. 29773854

2018
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665

2017
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation BEFREE A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. 28062665

2017
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 Biomarker BEFREE This suggests that modulation of TL1A-DR3 interaction may be a potential therapeutic target in several autoimmune diseases, including IBD, RA, AS, and PBC. 24453414

2013
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 AlteredExpression BEFREE In summary, we provide evidence that variance within TNFSF15 has the potential to affect cytokine expression across a range of tissues and thereby contribute to protection from infectious diseases such as leprosy, while increasing the risk of immune-mediated diseases including CD and PBC. 27507062

2016
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation BEFREE This study identified the causal variant for PBC susceptibility in the TNFSF15 locus and clarified its underlying molecular mechanism. 25899471

2015
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.480 GeneticVariation BEFREE Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 Biomarker BEFREE Immunogenetic studies have identified polymorphisms of the IL-12/STAT4 pathway as being associated with PBC. 31803181

2019
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation BEFREE The effect of ICOSLG and CXCR5 variants were concordant but the effect of STAT4, NFKB1 and IL12B variants were discordant for PBC and CD. 26084578

2015
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 PosttranslationalModification BEFREE This effect was mediated by the rapid and strong phosphorylation of STAT4 on Treg cells from patients with PBC and pSS (p < 0.05) but not PSC and HC. 30119881

2018
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 Biomarker BEFREE Potential functional implications of key findings are discussed including the IL-12/STAT4 pathway in PBC and the CD28/IL-2 pathway in PSC. 26347073

2016
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation BEFREE STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepatitis C and drug-induced liver injury (DILI), primary biliary cirrhosis (PBC), HCV-associated liver fibrosis and in hepatocellular carcinoma (HCC). 25798064

2015
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012