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 In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory bowel disease, have been examined in a group of 308 sporadic PD patients and 220 healthy controls. 17174426

2007

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 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 Unfortunately, even if the association between the three main CARD15 mutations (R702W, G908R and 1007fs) and CD is clearly established, it is not useful today to genotype asymptomatic at risk people or inflammatory bowel disease patients as a routine. 12840668

2003

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD). 17941079

2008

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE In the Dutch population, CARD15 G908R and L1007fs are associated with Crohn's disease. 17489054

2007

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Among the described CARD15 variants, G908R confers an increased susceptibility to CD, whereas the more frequently reported associations in Europeans with R702W and 1007fs are not confirmed in this Turkish population. 16614992

2006

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 BEFREE Three mutations, Arg702Trp, Gly908Arg, and Leu1007fsinsC, are associated with CD. 15180737

2004

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

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 It has been shown previously that three nucleotide-binding oligomerization domain containing 2 (NOD2) variants (Arg702Trp, Gly908Arg and Lue1007fs) are associated with Crohn's disease (CD), a disorder clinically resembling Behçet's disease (BD). 19748964

2009

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Arg702Trp, Gly908Arg, and Leu1007fsinsC mutations in the NOD2/CARD15 gene are associated with Crohn's disease in Caucasians. 16133971

2005

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The need for Crohn's disease-related surgery is higher in carriers of the G908R or 1007fs CARD15 mutation in the Galician population. 16266221

2005

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three mutations (R702W, G908R, and 1007fs) within the CARD15 gene have been identified as independent risk factors for the development of Crohn's disease (CD). 15527324

2004

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE We genotyped the R702W, G908R and 1007fs variants, previously associated with CD, in TB cases and controls from the admixed South African Coloured population. 17113749

2007

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) associated with susceptibility to Crohn's disease were not found in these patients. 16133969

2005

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation UNIPROT Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576

2001

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Variant 1007fsinsC (P=0.003) and G908R (P=0.008) but not R702W (P=0.269) alleles were more prevalent in Scottish CD (4.7, 1.8 and 7.1%, respectively) than Scottish control (2.3, 0.3 and 5.4%). 15190267

2004

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Three risk alleles for Crohn's disease, (Arg702Trp (C/T), Gly908Arg (G/C) and 980fs981 (-/C), were recently identified in the CARD15/NOD2 gene on chromosome 16, implicating this as the IBD1 locus. 12556233

2003

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Ashkenazi Jews with CD had significantly higher allele frequency carriage of G908R and lower carriage of R702W compared with non-Jewish whites with CD. 12512038

2003

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE A higher frequency of CARD15 mutations was found in AJ patients from multiplex families with CD from Central (44.0%) versus Eastern (24.0%) Europe, especially for G908R and 1007fs, and in SOJ patients (34.5%) compared with AJ (10.1%) or SOJ (5.4%) controls. 15024686

2004

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE In CD and UC patients, no significant association with G908R variant was found. 18680223

2008

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 An association was identified between Gly(908)Arg and UC spondylarthritis (P = 0.016, odds ratio [OR] 4.6, 95% confidence interval [95% CI] 1.3-16), and a nonsignificant trend with a similar magnitude was observed in association with CD spondylarthritis (P = 0.08, OR 3.9, 95% CI 0.8-18). 12115195

2002