rs3197999, MST1;APEH

N. diseases: 16
Disease: Crohn Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution. 22087277 2011
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE After stepwise logistic regression, the 2 variants were associated in adult UC with distal colitis (P(rs9858542) = 0.013, odds ratio [OR] = 2.04, 95% confidence interval [CI] = 1.16-3.59; P(rs3197999) = 0.018, OR 1.9, 95% CI 1.2-3.3), while the rs3197999 variant was inversely associated with occurrence of extraintestinal manifestations in adult CD(P = 0.017, OR 0.6, 95% CI 0.4-0.9). 20024904 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE We then identified a non-synonymous coding variant (rs3197999, R689C) in the macrophage-stimulating 1 (MST1) gene (P-value 3.62 x 10(-6)) that accounts for the association signal, and shows association with both CD and UC. 19079170 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008