|(C;C)||0||common in complete genomics|
|(C;T)||3||3x higher risk for Crohn's disease|
|(T;T)||4||~35x higher risk for Crohn's disease|
[PMID 18756601] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.[PMID 19435634] Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
[PMID 20412372] NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
[PMID 20940596] NOD2/CARD15 Mutations Correlate With Severe Pouchitis After Ileal Pouch-Anal Anastomosis
[PMID 20959815] NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver-Intestine Transplantation in Children With Short-Gut Syndrome
[PMID 21734346] High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients
[PMID 22269043] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population
|Disease||INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE) not specified Crohn disease Blau syndrome YAO SYNDROME|
|CLNDBN||INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO not specified Crohn disease Blau syndrome YAO SYNDROME, SUSCEPTIBILITY TO|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000004957.4, RCV000203217.1, RCV000273268.1, RCV000365422.1, RCV000416493.1,|
[PMID 15955786] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
[PMID 16380915] Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.
[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
[PMID 17684544] Systematic association mapping identifies NELL1 as a novel IBD disease gene.
[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.
[PMID 17786191] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
[PMID 18070336] CD209 in inflammatory bowel disease: a case-control study in the Spanish population.
[PMID 18382655] Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.
[PMID 18576390] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
[PMID 18633131] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
[PMID 18650832] MAST3: a novel IBD risk factor that modulates TLR4 signaling.
[PMID 18698678] Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
[PMID 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 19147066] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.
[PMID 19185283] Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.
[PMID 19570052] NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.
[PMID 19843337] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.
[PMID 20066736] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.
[PMID 20082483] NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
[PMID 20371648] Penetrance of NOD2/CARD15 genetic variants in the general population.
[PMID 20646321] Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
[PMID 21730793] Influence of Crohn's disease risk alleles and smoking on disease location.
[PMID 21745515] Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.
[PMID 22563200] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
[PMID 21745302] NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis.
|qualified_impact||Low clinical importance, Likely pathogenic|
|summary||NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.|
[PMID 23651603] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population
[PMID 26107754] Association of SNPs with the efficacy and safety of immunosuppressant therapy after heart transplantation