Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.440 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
0.440 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
0.440 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 2016
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.440 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 2013
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.440 Biomarker disease BEFREE In contrast, studies have associated primary biliary cirrhosis and primary sclerosing cholangitis with genes encoding major histocompatibility complex proteins and identified loci associated with microbial sensing and immune regulatory pathways outside this region, such as genes encoding IL12, STAT4, IRF5, IL2 and its receptor (IL2R), CD28, and CD80. 23583734 2013
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.440 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
0.440 Biomarker disease CTD_human Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011