|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
|
27812135 |
2016 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
|
24790089 |
2014 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
|
24960071 |
2014 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4.
|
16485124 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
|
15024686 |
2004 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
|
27812135 |
2016 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
|
24790089 |
2014 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
|
24960071 |
2014 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4.
|
16485124 |
2006 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
A higher frequency of CARD15 mutations was found in AJ patients from multiplex families with CD from Central (44.0%) versus Eastern (24.0%) Europe, especially for G908R and 1007fs, and in SOJ patients (34.5%) compared with AJ (10.1%) or SOJ (5.4%) controls.
|
15024686 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
|
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2476601
|
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.
|
18247425 |
2008 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs111033566
|
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
rs111033566
|
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
|
14695529 |
2004 |