Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.330 GeneticVariation disease BEFREE Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. 31718710 2019
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.330 Biomarker disease BEFREE Dysfunction of NOD2 pathway has been associated with a number of autoinflammatory disorders. 29057049 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.330 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. 22244368 2012
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.330 Biomarker disease GENOMICS_ENGLAND Familial granulomatous arthritis, iritis, and rash. 4056967 1985