Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2076756
rs2076756
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.820 GeneticVariation BEFREE The sibling with pouchitis inherited the IBD-associated risk alleles for NOD2 (rs17221417 and rs2076756) from his healthy father. 28633443 2017
dbSNP: rs2076756
rs2076756
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.820 GeneticVariation BEFREE The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of patients with inflammatory bowel disease and to elucidate phenotypic consequences. 21209938 2010
dbSNP: rs2076756
rs2076756
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.820 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223 2006
dbSNP: rs2076756
rs2076756
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.820 GeneticVariation GWASCAT A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223 2006
dbSNP: rs5743289
rs5743289
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
T 0.800 GeneticVariation GWASDB Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. 18758464 2008
dbSNP: rs5743289
rs5743289
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
T 0.800 GeneticVariation GWASCAT Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. 18758464 2008
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Ileal samples were prospectively collected from 18 nonsmoking CD patients not treated with anti-TNF-α biologics and 9 nonsmoking control patients without inflammatory bowel disease undergoing initial resection and genotyped for the 3 major NOD2 risk alleles (Arg702Trp, Gly908Arg, Leu1007fs). 20155851 2010
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with increased risk of the inflammatory bowel disease, the Crohn's disease. 20412372 2010
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE R702W gene mutation was significantly lower in the inflammatory bowel disease group (1.5%) than the controls (4.8%) (P < 0.05). 17978873 2008
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223 2008
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are associated with the pathogenesis of Crohn disease, a chronic inflammatory bowel disease. 17355968 2007
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. 15967635 2005
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669 2003
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. 12115195 2002
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.790 GeneticVariation BEFREE Two cohorts of consecutively identified patients referred to an inflammatory bowel disease center (n = 142 collected between 1993 and 1996; n = 59 collected between 1999 and 2001) were genotyped for 3 single nucleotide variants of NOD2-R675W, G881R, and 3020insC-and phenotyped for disease behavior, disease location, and serum immune markers. 12198692 2002
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 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
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with increased risk of the inflammatory bowel disease, the Crohn's disease. 20412372 2010
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223 2008
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD). 18756601 2008
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are associated with the pathogenesis of Crohn disease, a chronic inflammatory bowel disease. 17355968 2007
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn's disease patients: a project of the European Collaborative Study Group on Inflammatory Bowel Disease. 17278126 2007
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE To investigate the distribution of CARD15/NOD2 (Arg702Trp, Gly908Arg and Leu1007fsinsC) and TLR4 (Asp299Gly) polymorphisms in Chilean patients with IBD.Methods. 16840031 2006
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. 15967635 2005
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669 2003