rs2293370, TIMMDC1

N. diseases: 3
Disease: Primary biliary cirrhosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC. 30643196 2019
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation BEFREE This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC. 30643196 2019
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665 2017
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation 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
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.810 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011