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 |
NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?
|
15190267 |
2004 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A new CARD15 mutation in Blau syndrome.
|
15812565 |
2005 |
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 |
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 |
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.
|
12019468 |
2002 |
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 |
CausalMutation
|
disease |
CLINVAR |
CARD15 mutations in Blau syndrome.
|
11528384 |
2001 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
The intermediate filament protein, vimentin, is a regulator of NOD2 activity.
|
22684479 |
2013 |
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 |
A Case of Blau Syndrome with NOD2 E383K Mutation.
|
27339507 |
2016 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.
|
14522785 |
2003 |
Regional enteritis
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations.
|
15770725 |
2005 |
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 |
CausalMutation
|
disease |
CLINVAR |
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
|
20565245 |
2010 |
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 |
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 |
The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease.
|
11910337 |
2002 |
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 |
SusceptibilityMutation
|
disease |
CLINVAR |
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
|
21983784 |
2011 |
Regional enteritis
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.
|
15044951 |
2004 |
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 |
SusceptibilityMutation
|
disease |
CLINVAR |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |