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 GermlineCausalMutation ORPHANET

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 CARD15 mutations in Blau syndrome. 11528384

2001
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 CausalMutation CLINVAR Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 14522785

2003
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 A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507

2016
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 Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188

2015
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 Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 24713464

2014
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 SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and early onset sarcoidosis (EOS) through receptor hyperactivation. 25093298

2014
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
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 NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 22509093

2012
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 Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 15044951

2004
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 Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 25136265

2014
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 Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 25416713

2015
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 Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 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 Blau syndrome associated with a CARD15/NOD2 mutation. 17157607

2006
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 These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation. 15459013

2005
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 While CARD15 variants associated with CD are located within or near the C-terminal leucine-rich repeat domain and cause decreased NF-kappaB activation, BS mutations affect the central nucleotide-binding NACHT domain and result in increased NF-kappaB activation. 15812565

2005
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 SusceptibilityMutation CLINVAR NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? 15190267

2004
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 Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 21335489

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 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 15571588

2004
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 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
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 SusceptibilityMutation CLINVAR Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. 11425413

2001
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 The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. 11910337

2002