|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A Case of Blau Syndrome with NOD2 E383K Mutation.
|
27339507 |
2016 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.
|
25416713 |
2015 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome.
|
25829188 |
2015 |
|
Regional enteritis
|
0.400 |
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 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
|
25093298 |
2014 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.
|
24713464 |
2014 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
|
25136265 |
2014 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
The intermediate filament protein, vimentin, is a regulator of NOD2 activity.
|
22684479 |
2013 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
|
22509093 |
2012 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
|
21548950 |
2011 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC.
|
21335489 |
2011 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
|
21983784 |
2011 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
NOD2 exonic variations in Iranian Crohn's disease patients.
|
21274544 |
2011 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
|
20565245 |
2010 |
|
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
NOD2-associated diseases: Bridging innate immunity and autoinflammation.
|
19467619 |
2010 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.
|
19479836 |
2009 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis.
|
19713276 |
2009 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
|
18718560 |
2009 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria.
|
18240302 |
2008 |
|
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs.
|
18489434 |
2008 |
|
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
|
18438406 |
2008 |
|
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
NOD2/CARD15 gene variants are linked to failure of antibiotic treatment in perianal fistulating Crohn's disease.
|
18371140 |
2008 |
|
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Cell culture models in developing nutrigenomics foods for inflammatory bowel disease.
|
17568627 |
2007 |
|
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
|
17435756 |
2007 |
|
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Blau syndrome associated with a CARD15/NOD2 mutation.
|
17157607 |
2006 |