×
Entrez Id:
79258
Gene Symbol:
MMEL1
MMEL1
0.500
SusceptibilityMutation
disease
ORPHANET
×
Entrez Id:
4843
Gene Symbol:
NOS2
NOS2
0.500
Biomarker
disease
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
0.500
Biomarker
disease
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
0.500
Biomarker
disease
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
0.480
GeneticVariation
disease
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
0.480
Biomarker
disease
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
0.480
SusceptibilityMutation
disease
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
0.480
Biomarker
disease
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
0.480
GeneticVariation
disease
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
0.480
GeneticVariation
disease
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
0.480
GeneticVariation
disease
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
0.480
Biomarker
disease
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
0.480
AlteredExpression
disease
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
0.480
GeneticVariation
disease
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
0.480
GeneticVariation
disease
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
0.480
GeneticVariation
disease
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
0.480
GeneticVariation
disease
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
0.470
Biomarker
disease
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
0.470
GeneticVariation
disease
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
0.470
PosttranslationalModification
disease
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
0.470
Biomarker
disease
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
0.470
GeneticVariation
disease
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
0.470
GeneticVariation
disease
GWASDB
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
22961000
2012
×
Entrez Id:
6775
Gene Symbol:
STAT4
STAT4
0.470
GeneticVariation
disease
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
0.470
GeneticVariation
disease
GWASDB
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
23000144
2012