Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 11385577 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 11385577 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. 11425413 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR CARD15 mutations in Blau syndrome. 11528384 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human CARD15 mutations in Blau syndrome. 11528384 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. 11910337 2002
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 12019468 2002
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. 12512038 2003
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 14522785 2003
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 15044951 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? 15190267 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. 15198989 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 15459013 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 15571588 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations. 15770725 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR A new CARD15 mutation in Blau syndrome. 15812565 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Blau syndrome associated with a CARD15/NOD2 mutation. 17157607 2006
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Cell culture models in developing nutrigenomics foods for inflammatory bowel disease. 17568627 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria. 18240302 2008
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human NOD2/CARD15 gene variants are linked to failure of antibiotic treatment in perianal fistulating Crohn's disease. 18371140 2008
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. 18438406 2008