|
rs104895461
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CARD15 mutations in Blau syndrome.
|
11528384 |
2001 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.
|
14522785 |
2003 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.
|
25416713 |
2015 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Blau syndrome associated with a CARD15/NOD2 mutation.
|
17157607 |
2006 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
|
15459013 |
2005 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.
|
24713464 |
2014 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.
|
15044951 |
2004 |
|
rs104895462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
|
22509093 |
2012 |
|
rs104895467
|
|
G |
0.700 |
SusceptibilityMutation |
CLINVAR |
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
|
21983784 |
2011 |
|
rs104895473
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
|
25136265 |
2014 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
|
18718560 |
2009 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Case of Blau Syndrome with NOD2 E383K Mutation.
|
27339507 |
2016 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
|
20565245 |
2010 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome.
|
25829188 |
2015 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
|
25093298 |
2014 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new CARD15 mutation in Blau syndrome.
|
15812565 |
2005 |
|
rs104895477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.
|
19479836 |
2009 |
|
rs1264862631
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs139868987
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.
|
28126021 |
2017 |
|
rs2066844
|
|
T |
0.700 |
SusceptibilityMutation |
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 |
|
rs2066844
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan.
|
12512038 |
2003 |
|
rs2066844
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
|
15198989 |
2004 |
|
rs2066844
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |