Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Previous studies have identified that genetic variations at rs2066844, rs2066845, rs2066847 are associated with diminished enteric α-defensins in ileal Crohn's disease (CD). 31403980

2019

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Mutations of Nod2 (R702W, G908R and 1007 fs) are associated with Crohn's disease and have lower stabilities compared to wild type. 29671171

2018

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Carrier frequency for the Gly908Arg mutation in CD and UC patients was 8/25 (32%) and 3/25 (12%), respectively (P = 0.08). 30430799

2018

dbSNP: rs2066845
rs2066845
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

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation UNIPROT Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs). 27812135

2016

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. 26147989

2015

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation UNIPROT The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease. 24790089

2014

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation UNIPROT Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain. 24960071

2014

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively). 23709157

2013

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three main variants of this gene: two single nucleotide polymorphisms p.Arg702Trp and p.Gly908Arg substitutions and frameshift polymorphism p.Leu1007fsinsC are involved in susceptibility to Crohn's disease. 22266421

2012

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Crohn's disease-associated NOD 2 variants (Arg702Trp and 3020insC) were found to be monomorphic (wild), and 7 subjects were heterozygous for Gly908Arg SNP in 263 patients with tuberculosis, 260 patients with leprosy and 270 healthy controls residing in northern Indian states. 22289211

2012

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE An association with CD was found for the classical single nucleotide polymorphism (SNP) 1007fs (2.6% CD, 0% HC, P = 0.012); there was no association when the genotypic and allelic frequencies of the risk alleles were compared for SNPs R702W and G908R. 22447396

2012

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three NOD2/CARD15 variants, namely two missense polymorphisms R702W (rs2066844) and G908R (rs2066845), and a frame shift polymorphism L1007fs (rs2066847), were associated with CD in Caucasian populations. 21734346

2011

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272

2011

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE NOD2/CARD15 is involved in the innate immune response and three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with risk of the rare Crohn's disease. 19570052

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Thus, we searched for CD associated CARD15 gene variants R702W, G908R and 1007fs in 29 CNO patients, 4 of them additionally diagnosed with CD. 19579029

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). 20082483

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 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
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Particular mutations of the NOD2 gene are associated with Crohn's disease including gly908arg, leu1007finsc and arg702trp polymorphisms. 20646002

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Genotyping for the NOD2 variants in exon 4 (p.Arg702Trp [rs2066844]), exon 8 (p.Gly908Arg [rs2066845]), and exon 11 (p.1007fs [rs2066847]) was performed in 52 white children with HD (41 boys, 11 girls), 152 healthy controls, and 152 children with CD (onset of disease <17 years; mean, 11.8 years). 20850627

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The 3 NOD2 single-nucleotide polymorphism mutations (rs2066844, rs2066845, and rs2066847) previously identified as associated with Crohn's disease were genotyped using polymerase chain reaction. 20940596

2010

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 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

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE For the remaining markers, a susceptibility role was attributed also confirming that markers on CARD15 gene, in particular G908R and L1007fsinsC, are involved with CD to the same extent as FcGIIIA G559T and TNF-alpha-G308A. 18804983

2009

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Both NOD2 mutations (G908R, P = 0.02, OR = 6.83, 95% CI = 1.62-25.45, and L1007fsinsC, P = 0.00, OR = 20.00, 95% CI = 3.21-124.69) were associated with CD. 18942754

2009