TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
G 0.900 CausalMutation CLINVAR
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
T 0.900 CausalMutation CLINVAR
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
T 0.900 GeneticVariation CLINVAR
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
Multiple Sclerosis
C 0.880 GeneticVariation GWASCAT Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. 27386562 2016
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs1800693
rs1800693
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
Multiple Sclerosis
G 0.880 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013