Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066844
rs2066844
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017
dbSNP: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
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: rs2066844
rs2066844
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 GeneticVariation UNIPROT Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686

2004
dbSNP: rs2066844
rs2066844
NOD2
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