rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis.
|
29256170 |
2019 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant.
|
27990755 |
2017 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS</span> symptoms.
|
22059991 |
2011 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe a case of a 58-year-old patient with TRAPS caused by the low-penetrance R92Q mutation in TNFRSF1A gene.
|
21869706 |
2011 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A.
|
21225694 |
2011 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS).
|
21565411 |
2011 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
To define the frequency of the R92Q tumor necrosis factor receptor-associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF.
|
20506103 |
2010 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Our report expands the spectrum of TNFRSF1A mutations associated with TRAPS, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and confirms etanercept as an efficacious treatment alternative.
|
18408954 |
2008 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Six of 25 adult MS patients (24%) with symptoms suggestive of TRAPS were found to carry the identical arginine-to-glutamine substitution at amino acid position 92 (R92Q or p.Arg121Gln) encoded by exon 4 of the TNFRSF1A gene.
|
17665448 |
2007 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
The R92Q mutation does not appear to be significantly associated with TRAPS.
|
16508982 |
2006 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
|
14610673 |
2004 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
|
13130484 |
2003 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
|
11443543 |
2001 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
|
10902757 |
2000 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
|
10199409 |
1999 |
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
G |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
T |
0.900 |
GeneticVariation |
CLINVAR |
|
|
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
Genetic polymorphism (rs1800693) of TNFRSF1A (type 1 tumour necrosis factor receptor) encodes a potentially anti-inflammatory soluble truncated form of the p55 receptor, which is associated with predisposition to multiple sclerosis but protection against ankylosing spondylitis (AS).
|
29535371 |
2019 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800</span>693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation.
|
30009568 |
2018 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS.
|
29034884 |
2017 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
C |
0.880 |
GeneticVariation |
GWASCAT |
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
|
27386562 |
2016 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
The TNF-α inverse association with relapse was only present among persons carrying the wild-type of the functional SNP rs1800693 in TNFRSF1A that has been previously associated with MS risk.
|
24790215 |
2015 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
The MS rs1800693(G) susceptibility allele affects the magnitude of monocyte responses to TNF-α stimulation, and the TNF pathway may be one network in which the effect of multiple MS genes becomes integrated.
|
24174586 |
2013 |
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
G |
0.880 |
GeneticVariation |
GWASCAT |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
24076602 |
2013 |