Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria. 18240302 2008
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? 15190267 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR A new CARD15 mutation in Blau syndrome. 15812565 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 19479836 2009
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 22509093 2012
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950 2011
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 12019468 2002
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. 12512038 2003
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR CARD15 mutations in Blau syndrome. 11528384 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 22684479 2013
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276 2009
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Cell culture models in developing nutrigenomics foods for inflammatory bowel disease. 17568627 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507 2016
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 14522785 2003
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations. 15770725 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 21335489 2011
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 20565245 2010
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 15571588 2004
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 15459013 2005
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. 11910337 2002
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 25093298 2014
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human NOD2-associated diseases: Bridging innate immunity and autoinflammation. 19467619 2010
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 24713464 2014
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 11385577 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576 2001