Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A Case of Blau Syndrome with NOD2 E383K Mutation.
|
27339507 |
2016 |
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
|
11385577 |
2001 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
|
11385577 |
2001 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A new CARD15 mutation in Blau syndrome.
|
15812565 |
2005 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.
|
11425413 |
2001 |
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Blau syndrome associated with a CARD15/NOD2 mutation.
|
17157607 |
2006 |
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 |
Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
|
25136265 |
2014 |
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 |
SusceptibilityMutation
|
disease |
CLINVAR |
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.
|
12019468 |
2002 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
CARD15 mutations in Blau syndrome.
|
11528384 |
2001 |
Regional enteritis
|
0.400 |
Biomarker
|
disease |
CTD_human |
CARD15 mutations in Blau syndrome.
|
11528384 |
2001 |
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 |
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 |
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
|
15024686 |
2004 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan.
|
12512038 |
2003 |
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 |
Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.
|
15571588 |
2004 |
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 |
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
|
15459013 |
2005 |
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 |
CausalMutation
|
disease |
CLINVAR |
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome.
|
25829188 |
2015 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
|
20565245 |
2010 |