Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 SusceptibilityMutation disease CLINVAR A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 11385577 2001
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 SusceptibilityMutation disease CLINVAR Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. 11425413 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
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Blau syndrome associated with a CARD15/NOD2 mutation. 17157607 2006
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 CausalMutation disease CLINVAR Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 25136265 2014
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 CausalMutation disease CLINVAR Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 25416713 2015
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 CausalMutation disease CLINVAR CARD15 mutations in Blau syndrome. 11528384 2001
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 Biomarker disease CTD_human CARD15 mutations in Blau syndrome. 11528384 2001
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 Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 18718560 2009
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
0.400 SusceptibilityMutation disease CLINVAR Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686 2004
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 SusceptibilityMutation disease CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784 2011
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 SusceptibilityMutation disease CLINVAR Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 26500656 2015
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 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 CausalMutation disease CLINVAR Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188 2015
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