Disease: Uveitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE The E600A mutation in the NOD2 gene may confer a higher penetrance of uveitis but a later onset of milder forms of non-ocular involvement. 27419275 2018
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 Biomarker disease BEFREE Blau syndrome-associated uveitis and the NOD2 gene. 24010719 2014
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE Blau's syndrome (familial juvenile systemic granulomatosis) presents with non-caseating granulomatous inflammation affecting the joint, skin, and uveal tract (the triad of arthritis, dermatitis and uveitis) and is associated with mutations of the NACHT domain of the gene CARD15 (or NOD2). 22714396 2012
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE Elucidation of downstream effects of NOD2 mutations could provide valuable clues to mechanisms of arthritis and uveitis in general as well as granulomatous diseases in particular. 21788900 2011
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis. 20565245 2010
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE It seems thus that Blau syndrome-related CARD15 mutations are not involved in idiopathic uveitis, a finding which allows us to suggest that the genetic aetiology of the idiopathic uveitis or the Blau-associated uveitis is different. 19822951 2009
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE Altogether, our results suggest that the Crohn's disease-linked CARD15 polymorphisms do not seem to predispose to idiopathic uveitis in the Spanish population. 18219096 2008
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE We enrolled 135 Japanese sarcoidosis patients with uveitis as well as 95 healthy individuals and performed mutation analysis by direct sequencing of CARD15 exon 4. 18384487 2008
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease LHGDN Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50-90% of cases. 17009307 2006
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE The search of a CARD15/NOD2 mutation could be helpful in the differential diagnosis of childhood uveitis. 17157607 2006
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50-90% of cases. 17009307 2006
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 Biomarker disease BEFREE By studying NOD2 and the proteins that interact with NOD2, we should gain a better understanding of the pathogenic mechanisms of uveitis and identify novel ways to halt its destructive consequences. 14516815 2003
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease LHGDN By studying NOD2 and the proteins that interact with NOD2, we should gain a better understanding of the pathogenic mechanisms of uveitis and identify novel ways to halt its destructive consequences. 14516815 2003
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 Biomarker disease LHGDN Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 14522785 2003
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 GeneticVariation disease BEFREE NOD2 polymorphisms were found in 26 patients with sarcoidosis (13 with uveitis). 14597055 2003
CUI: C0042164
Disease: Uveitis
Uveitis 		0.200 Biomarker disease HPO