Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Importantly, ATG16L1 A300T and NOD2 variants were not associated with serologic responses in healthy controls and unoperated UC patients. 30265311 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Irrespective of the underlying diagnosis, IBDhi patients (analogous to the poor prognosis IBD1 subgroup) experienced significantly more aggressive disease than IBDlo patients (analogous to IBD2), with earlier need for treatment escalation (hazard ratio=2.65 (CD), 3.12 (UC)) and more escalations over time (for multiple escalations within 18 months: sensitivity=72.7% (CD), 100% (UC); negative predictive value=90.9% (CD), 100% (UC)). 31030191 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The frequency of NOD2/CARD15 gene mutations is high in CD and UC among Bedouin Arab IBD patients and is associated with younger age at onset in CD and male gender. 30430799 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE In all subjects, just one band of 151 bp, corresponding to wild-type N852S, was found, and no other N852S mutant bands (151+129+22 and 129+22 bp) were detected using PCR-RFLP fragment electrophoresis.The CTLA-4 gene +49 A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism were not associated with CD or UC in a Turkish population. 30213296 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. 29055077 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE In addition, 9 genes previously associated with IBD contained SNPs with significant evidence for replication (P < 1.6 × 10<sup>-6</sup>): ADCY3, CXCR6, HLA-DRB1 to HLA-DQA1 (genome-wide significance on conditioning), IL12B,PTGER4, and TNC for IBD; IL23R, PTGER4, and SNX20 (in strong linkage disequilibrium with NOD2) for CD; and KCNQ2 (near TNFRSF6B) for UC. 27693347 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE By means of flow cytometry, production of tumor necrosis factor-alpha (TNF-α) was measured in peripheral blood monocytes from patients suffering from CD, ulcerative colitis (UC) and in healthy subjects after stimulation of the NOD2 and TLR pathways. 27895399 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE To investigate whether variants in NOD2/CARD15 and TLR4 are associated with CD and ulcerative colitis (UC) in a genetically admixed population of Rio de Janeiro, where IBD has continued to rise. 27107867 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The total frequency of the mutated NOD2 chromosomes was higher in CD (13%), than in HC (8%) and UC (5%). 26167078 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Significant associations were found between Crohn's disease (CD) and minor NOD2 variants, as well as TLR4 299Gly, TNF-α G-308A, IL-6 G-174C and IL-1RN VNTR A2 variants, while ulcerative colitis (UC) was associated only with IL-1RN VNTR A2 variants. 26316104 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. 26147989 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association? 24595243 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Focusing on TNFSF15 instead of NOD2, we set out to evaluate whether combining serologic and genetic markers could distinguish between Crohn’s disease (CD) and ulcerative colitis (UC), and whether they could be used to stratify the disease behavior of Taiwanese CD patients. 24783249 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE NOD2 mutations were present in 28 patients with UC (14.0 %) and in 27 controls (13.4 %) (p = 0.853). 24651958 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CARD15/NOD2 (SNP5, rs2066842), which has not been reported in Caucasian UC cohorts. 24145928 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively). 23709157 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Of 8 NOD2 polymorphisms, none were associated with CD but two were weakly associated with UC. 23085276 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. 22426692 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Intriguingly, association with epithelial barrier genes seems specific to ulcerative colitis--the converse of NOD2 and the autophagy genes which are Crohn's-specific. 22796792 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE We now have a much more detailed appreciation of the molecular genetic architecture of inflammatory bowel disease (IBD), and particularly the areas of overlap between Crohn's disease (CD) and ulcerative colitis (UC) (such as Th17 pathways) and the pathways which are disease-specific (such as NOD2 and autophagy for CD and the MHC and epithelial barrier genes for UC). 23075873 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE IRF5 polymorphisms contribute to the risk profile for Crohn's disease and ulcerative colitis along with ancestry and NOD2 genotypes. 22257839 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Mutations in NOD2 have the highest disease-specific risk association for CD, and a related gene, NOD1, is associated with UC. 21729873 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Most of the divergence in allele frequency among CD and UC was noted in NOD2/autophagy pathway SNPs, while most SNPs with similar frequencies were in IL-22/23 Th17, adaptive immunity, and barrier pathways. 21830272 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE We have successfully implemented NOD2/CARD15 HRMA assays, which may contribute to the development of genetic profiles for risk prediction of developing CD and for differential diagnosis of CD vs. UC. 21734346 2011