Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency. 31760574 2020
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome. 30806112 2020
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia. 31543536 2020
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Blau syndrome (BS) is a rare monogenic autoinflammatory disease caused by NOD2 mutations. 31541486 2020
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 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: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker disease BEFREE NOD2 (nucleotide-binding oligomerization domain-containing protein 2)-related disease, which includes Blau syndrome and early-onset sarcoidosis, is the prototypic example of granulomatous inflammation in the context of monogenic autoinflammation. 29538758 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE The novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene (c.1808A>G) enriches the mutation spectrum in Blau syndrome. 29570830 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. 29933504 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker disease BEFREE A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. 27625029 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. 27419275 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE To elucidate the mechanisms of autoinflammation in patients with Blau syndrome, we sought to clarify the relation between disease-associated mutant NOD2 and the inflammatory response in human samples. 28587749 2018
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker disease BEFREE Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome. 28836875 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE The association of NOD2 mutations with a number of inflammatory pathologies, including Crohn disease (CD), Graft-versus-host disease (GVHD), and Blau syndrome, highlights its pivotal role in host-pathogen interactions and inflammatory response. 28253332 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. 28639104 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form. 26768519 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Blau syndrome (BS) is an autosomal dominant autoinflammatory disease associated with NOD2 gene mutations. 25381727 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Accordingly, skin rash with granuloma formation and specific NOD2 mutations may represent early diagnostic hallmarks of EOS in infants with persistent inflammation. 28130683 2017
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 CausalMutation disease CLINVAR A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507 2016
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE This is the first description of gonosomal NOD2 mosaicism as the cause of intrafamilial recurrence of Blau syndrome. 26606664 2016
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease UNIPROT Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. 27812135 2016
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Genetic analysis of the patient and his parents, who had no medical past history, revealed heterozygous 1147G>A (E383K) mutation of NOD2 in the patient and in his father, so the patient was diagnosed with Blau syndrome and his father as an asymptomatic carrier. 27339507 2016
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE Granulomatous disease associated with NOD2 variants may be an intermediate form between Blau syndrome and NAID. 26164256 2015
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 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: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation disease BEFREE To test the hypothesis that mutated NOD2 causes alterations in signaling pathways downstream of NOD2, we created a Nod2 knock-in mouse carrying the most common mutation seen in Blau syndrome, R314Q (corresponding to R334Q in humans). 25429073 2015
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 CausalMutation disease CLINVAR Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188 2015