TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Disease: TNF receptor-associated periodic fever syndrome (TRAPS) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450 2010
dbSNP: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673 2004
dbSNP: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 GeneticVariation UNIPROT Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 13130484 2003
dbSNP: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 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: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 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: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.810 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: rs104895222
rs104895222
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		T 0.810 CausalMutation CLINVAR