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 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 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 GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008

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 GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544

2007

dbSNP: rs2066845
rs2066845
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation UNIPROT We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4. 16485124

2006

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

2001