Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 SusceptibilityMutation CLINVAR NOD2 exonic variations in Iranian Crohn's disease patients. 21274544

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. 21596301

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker BEFREE The granulomatous character of Blau syndrome provides an opportunity to look at possible pathogenic effects of NOD2 'gain of function'. 21788900

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. 21320290

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker BEFREE The Crohn's disease and early onset sarcoidosis susceptibility protein, NOD2, coordinates innate immune signaling pathways. 21097508

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 SusceptibilityMutation CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 SusceptibilityMutation CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950

2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker CTD_human The patient had a susceptibility polymorphism of NOD2 previously described in CD, but not in BS or EOS. 19467619

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Mutations in the gene encoding NOD2 in humans have been associated with Crohn's disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS). 19467619

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 CausalMutation CLINVAR Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 20565245

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Early-onset sarcoidosis (EOS), which occurs in children younger than 5 years of age, is associated with granulomatous lesions and a sporadic genetic mutation of the nucleotide-binding oligomerization domain 2 that causes constitutive NF-kappaB activation. 20039400

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation UNIPROT Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees. 20199415

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees. 20199415

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 20565245

2010
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation UNIPROT Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15. 19359344

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE Twenty Japanese patients with Blau syndrome/EOS and NOD2 mutations were recruited. 19116920

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker BEFREE The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 19180500

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation UNIPROT Twenty Japanese patients with Blau syndrome/EOS and NOD2 mutations were recruited. 19116920

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 Biomarker BEFREE NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. 19479837

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE All of his three children had Blau syndrome and had inherited the NOD2 mutation. 19169908

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation UNIPROT NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. 19479837

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation UNIPROT All of his three children had Blau syndrome and had inherited the NOD2 mutation. 19169908

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 GeneticVariation BEFREE The gene responsible for BS has recently been identified in the nucleotide-binding domain (NBD) of caspase recruitment domain (CARD15/NOD2), also involved in the pathogenesis of Crohn's disease. 18718560

2009
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 CausalMutation CLINVAR Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 19479836

2009