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: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation BEFREE TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls. 24668260 2014
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation BEFREE Monoclonal antibodies that differentially bound to C33Y TNFRSF1A were used to investigate the distribution of WT and mutant TNFRSF1A in TRAPS patients with the C33Y mutation. 17665435 2007
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation BEFREE The cytokine profile of C33Y TRAPS differs from that of a typical autoimmune inflammatory condition such as rheumatoid arthritis, as only IL-6 and IL-8 were elevated in C33Y TRAPS patients, as distinct from a generalized elevation of pro-inflammatory cytokines. 16287931 2006
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673 2004
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation BEFREE In particular, dermal fibroblasts, but not leukocytes, from C33Y TRAPS patients demonstrated reduced shedding of TNFRSF1A. 15334481 2004
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation BEFREE Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members. 13130484 2003
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 GeneticVariation UNIPROT Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members. 13130484 2003
dbSNP: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 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: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 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: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.850 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: rs104895218
rs104895218
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		T 0.850 CausalMutation CLINVAR