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: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. 23965844 2014
dbSNP: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis. 23745996 2013
dbSNP: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis. 23322460 2013
dbSNP: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment. 19917181 2010
dbSNP: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. 18512793 2008
dbSNP: rs104895271
rs104895271
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		C 0.700 CausalMutation CLINVAR Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. 16508982 2006