Disease: Primary biliary cirrhosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation disease GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation disease GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation disease BEFREE Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 10(-7), respectively) in the Japanese population. 23000144 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation disease GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 GeneticVariation disease GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 Biomarker disease BEFREE Immunogenetic studies have identified polymorphisms of the IL-12/STAT4 pathway as being associated with PBC. 31803181 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 Biomarker disease CTD_human Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.470 Biomarker disease BEFREE Our findings confirm that STAT4 is involved in PBC susceptibility and may play a role in ANA status in the Japanese population. 24648611 2014
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		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