×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Mutual alteration of NOD2 -associated Blau syndrome and IFNγR1 deficiency.
31760574
2020
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia.
31543536
2020
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Blau syndrome (BS ) is a rare monogenic autoinflammatory disease caused by NOD2 mutations.
31541486
2020
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
Biomarker
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.
29933504
2018
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
Biomarker
BEFREE
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome .
27625029
2018
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
A Novel NOD2 -associated Mutation and Variant Blau Syndrome : Phenotype and Molecular Analysis.
27419275
2018
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
Biomarker
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed.
28639104
2017
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form.
26768519
2017
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Blau syndrome (BS ) is an autosomal dominant autoinflammatory disease associated with NOD2 gene mutations.
25381727
2017
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
CausalMutation
CLINVAR
A Case of Blau Syndrome with NOD2 E383K Mutation.
27339507
2016
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
This is the first description of gonosomal NOD2 mosaicism as the cause of intrafamilial recurrence of Blau syndrome .
26606664
2016
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
UNIPROT
Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins.
27812135
2016
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
BEFREE
Granulomatous disease associated with NOD2 variants may be an intermediate form between Blau syndrome and NAID.
26164256
2015
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
SusceptibilityMutation
CLINVAR
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.
26500656
2015
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
GeneticVariation
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
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800
CausalMutation
CLINVAR
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome.
25829188
2015