Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Notably, MDP binding to NOD2 and Arf6 was abrogated with loss-of-function NOD2 mutants associated with Crohn's disease. 30735346 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Risk variants in NOD2 were found in 7/8 FGDS patients with concomitant Crohn's disease and in 2/14 FDGS patients without Crohn's disease. 30353760 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE Here we report an integrative analysis of an expanded number of Crohn's disease (CD) related genetic defects in innate immune function (NOD2, ATG16L1, IRGM, CARD9, XBP1, ORMDL3) and composition of the ileal microbiome by combining the initial patient cohort (Batch 1, 2005-2010, n = 165) with a second consecutive patient cohort (Batch 2, 2010-2012, n = 118). 30818349 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE The aim of this study was to identify how genetic testing (NOD2/CARD15) can be used in patients with CD to predict the need for surgical treatment (to define an aggressive type of disease where the patient can profit from early surgery). 30069743 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Three major mutations associated with the NOD2 gene are known to have an influence on Crohn's disease (SNP8, SNP12, and SNP13). 31723489 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Some SAID-associated genes are located in chromosome 16, including familial Mediterranean fever gene (MEFV) and nucleotide-binding oligomerization domain 2 [NOD2] gene that are linked to Crohn's disease, Blau syndrome, and Yao syndrome. 31084224 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Anti-Saccharomyces cerevisiae was positive in 86% of patients with CD carrying the NOD2 1007fs variant compared with 36% in those without the variant (P < 0.001). 30265311 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Several loss-of-function NOD2 mutations are associated with Crohn's disease [CD]. 30893422 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE Here, we show that the combined deficiency of NOD2 and phagocyte NADPH oxidase, two CD susceptibility genes, triggers early-onset spontaneous T<sub>H</sub>1-type intestinal inflammation in mice with the pathological hallmarks of CD. 31004013 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE In vivo studies have revealed the importance of NOD-dependent host defense in models of infection, and a crucial area of investigation focuses on understanding the role of NOD1 and NOD2 at the intestinal mucosa, as this is of prime importance for understanding the etiology of Crohn's disease. 30578751 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE In the absence of robust bacterial recognition by NOD2 an inflammatory cascade is initiated through alternative PRRs leading to CD. 30774010 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE However, the exact roles of NOD2 in CD and other NOD2-associated disorders remain poorly known. 31784737 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Nucleotide-binding oligomerization domain-containing protein 2 (<i>NOD2</i>) gene mutations are a risk factor for Crohn's disease and also associated with worse outcome in short bowel syndrome (SBS) patients independent of the underlying disease. 31509436 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease GENOMICS_ENGLAND We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel contributing alleles, show evidence of association to CD. 29795570 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 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
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 AlteredExpression disease BEFREE CARD15 gene expression was lower in UC patients versus CD (<i>P =</i> 0.004). 30008619 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE Crohn's disease is also caused by mutations in the gene encoding NOD2 but the mechanisms behind Crohn's disease development in XIAP and NOD2 deficient-patients are still unknown. 29743550 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Common genetic variations in NOD2 has been associated with Crohn's disease and here we investigated the influence of these  genetic variations on the anti-Aspergillus host response. 29980664 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel contributing alleles, show evidence of association to CD. 29795570 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Gene-gene interaction analysis revealed significant interactions between MST1 and other susceptibility genes, including NOD2, MUC19 and ATG16L1 in contributing to Crohn's disease risk. 29441677 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Several genes have been studied so for with respect to CD, but thus far the strong and replicated associations have been identified with NOD2, IL23R and ATG16L1 genes. 28826742 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 AlteredExpression disease BEFREE Patients with CD in clinical remission or with very low disease activity according to the Crohn's disease activity index were genotyped regarding nucleotide-binding oligomerization domain 2 (<i>NOD2</i>), and PBMCs from wild-type (WT)-<i>NOD2</i> patients, patients with homozygous or heterozygous <i>NOD2</i> mutations and healthy donors were isolated for further analysis. 29568200 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 Biomarker disease BEFREE Absence of extraintestinal symptoms in patients with Crohn's disease may be associated with the absence of CARD15/NOD2 SNPs. 30648106 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE This was a retrospective genotype-phenotype association study on NOD2 gene mutations in 161 patients with CD. 30284387 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
1.000 GeneticVariation disease BEFREE Interestingly, we also found a rare variant in NOD2 previously associated with Crohn's disease (p.His352Arg). 30063981 2018