Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The NOD2/CARD15 mutation frequency was higher in Crohn's disease than in ulcerative colitis patients. 30430799

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Mutations in the NOD2 (the intracellular sensor of bacteria) or ATG16L1 (autophagy protein) genes are susceptibility traits for Crohn's, and epithelia lacking either protein displayed enhanced IL-8 production in comparison to wild-type cells when exposed to DNP + E coli. 30030553

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE This assay was used as a method to predict if other Crohn's associated Nod2 variants were O-GlcNAcylated, and also identified the modification on another NLR, Nod1. 29671171

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Nucleotide-binding Oligomerization Domain-2 (NOD2) mutations are associated with an increased risk to develop Crohn's Disease. 30250234

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Individuals with known CD-associated NOD2 mutations were matched to those with wild-type genotype. 29462388

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE Recent work has consistently shown XIAP to be critical for signaling downstream of the Crohn's disease susceptibility protein nucleotide-binding oligomerization domain-containing 2 (NOD2); however, the reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been inconsistent. 28404814

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE This work suggests that CD-associated Nod2 variants could be stabilized in vivo with a molecular chaperone. 28792733

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Genetic mutations in the innate immune receptor nucleotide-binding oligomerization domain-containing 2 (Nod2) have demonstrated increased susceptibility to Crohn's disease, an inflammatory bowel disease that is hypothesized to be accompanied by changes in the gut microbiota. 27748583

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Here, we evaluated the effects of Nod2 deletion in a murine model of spontaneous ileitis, i.e., the SAMP1Yit/Fc (SAMP) strain, which closely resembles CD. 27848951

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE We replicated the interaction of a variant in NOD2 with current smoking in relation to the risk for CD (frameshift variant fs1007insC; rs5743293). 28506689

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Since the discovery of the first Crohn's disease (CD) gene NOD2 in 2001, 140 genetic loci have been found in whites using high-throughput genome-wide association studies. 28838408

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The association of NOD2 mutations with a number of inflammatory pathologies, including Crohn disease (CD), Graft-versus-host disease (GVHD), and Blau syndrome, highlights its pivotal role in host-pathogen interactions and inflammatory response. 28253332

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE NOD2 is implicated in changes in the composition of the intestinal microbiota in Crohn's disease, but its role on skin microbiota is unknown. 28647345

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), a human membrane-associated innate immune receptor found in the gut epithelium and mutated in an estimated 30% of Crohn's disease patients, binds to peptidoglycan fragments and initiates an immune response. 28708377

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. 26953272

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation 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

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Loss of function mutations in the nucleotide oligomerization domain 2 (NOD2) gene are the main genetic risk factor for CD. 28520587

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three commonly occurring CD-associated NOD2 mutations, R702W, G908R, and L1007fs, are clustered near the regulatory domain, leucine rich region (LRR), and lowers the activity of NOD2 in response to muramyl dipeptide (MDP). 27791288

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation 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

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The aim of the study was to evaluate associations between inflammatory bowel disease (IBD) presentation and variants in NOD2, TLR4, TNF-α, IL-6, IL-1β, and IL-RN genes in order to identify possible environmental factors that may affect IBD occurrence, investigate potential predictors for surgical treatment of IBD, and correlate the presence of granulomas in biopsy specimens with clinical characteristics of Crohn's disease (CD) patients. 28452812

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE Several therapeutic approaches exist and these should be further explored to treat NOD2-related deficiencies in CD. 29096557

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE From sensing to shaping microbiota: insights into the role of NOD2 in intestinal homeostasis and progression of Crohn's disease. 28450278

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Hence we hypothesized that common NOD2 (nucleotide-binding oligomerisation domain containing 2) gene variants, known risk factors for Crohn's disease and bacterial translocation in liver cirrhosis, increase the odds of developing SC-CIP. 28765628

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker BEFREE Phase 1: MEDLINE and EMBASE were searched for studies (n=18) providing data on NOD2 and smoking in Crohn's disease. 28668336

2017