rs2076756, NOD2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE Six single-nucleotide polymorphisms (SNPs) associated with CD were evaluated in these patients: rs2076756, rs2066844, and rs2066845 in NOD2, rs4958847 and rs13361189 in IRGM, and rs2241880 in ATG16L1. 31714311 2019
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE The NOD2 single nucleotide polymorphism rs2076756 was associated with younger age at Crohn's disease diagnosis (p = 0.0002). 25664710 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. 22412388 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. 22412388 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation BEFREE The NOD2 variants rs2066843 and rs2076756 are novel and common CD susceptibility gene variants. 21209938 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASCAT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.830 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
Inflammatory Bowel Diseases
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
Inflammatory Bowel Diseases
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
Inflammatory Bowel Diseases
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
Inflammatory Bowel Diseases
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
Pouchitis
CUI: C0376620
Disease: Pouchitis
0.010 GeneticVariation BEFREE The sibling with pouchitis inherited the IBD-associated risk alleles for NOD2 (rs17221417 and rs2076756) from his healthy father. 28633443 2017
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). 21209938 2010
pathologic fistula
CUI: C0016169
Disease: pathologic fistula
0.010 GeneticVariation BEFREE In CD patients homozygous for these novel NOD2 variants, genotype-phenotype analysis revealed higher rates of a penetrating phenotype (rs2076756: p = 0.015) and fistulas (rs2076756: p = 0.015) and significant associations with CD-related surgery (rs2076756: p = 0.003; rs2066843: p = 0.015). 21209938 2010