Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 GeneticVariation disease GWASDB Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 23603763 2013
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 GeneticVariation disease BEFREE 223 cholangiocarcinoma patients including three primary sclerosing cholangitis individuals and 355 cancer- and primary sclerosing cholangitis-free controls were genotyped for MST1 rs3197999. 23422030 2013
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 Biomarker disease BEFREE These results strongly implicate the role of IL-2/IL2RA pathway in PSC and provide further confirmation of MST1 association. 22554193 2012
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 GeneticVariation disease BEFREE Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC. 22237417 2012
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 GeneticVariation disease GWASDB Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 SusceptibilityMutation disease ORPHANET Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.630 Biomarker disease CTD_human Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011