TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Disease: Autoinflammatory disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE Mutations in the TNFRSF1A gene, encoding tumor necrosis factor receptor 1 (TNF-R1), are associated with the autosomal dominant autoinflammatory disorder, called TNF receptor associated periodic syndrome (TRAPS). 25888769 2015
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE Mutations in TNFRSF1A encoding TNF receptor 1 (TNFR1) cause the autosomal dominant TNF receptor-associated periodic syndrome (TRAPS): a systemic autoinflammatory disorder. 24668260 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). 23894535 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE Tumor necrosis factor (TNF) receptor 1-associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. 23322460 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE We have identified variables that appear to be strongly related to the probability of detecting gene mutations in MEF and TNFRSF1A in adults, thus improving the evaluation of patients with suspected autoinflammatory disorders. 21244762 2011
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE TNF receptor-associated periodic syndrome (TRAPS) is a systemic autoinflammatory disorder caused by mutations in the type 1 TNF receptor (TNFRSF1A) gene. 20071450 2010
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE TRAPS is very rare in Turkish population and we present two unrelated Turkish children with similar clinical phenotypes and laboratory findings related with autoinflammatory disorders and with novel p. Y331X mutation in TNFRSF1A gene. 19804406 2010
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 Biomarker disease GENOMICS_ENGLAND The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists. 17360963 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.380 GeneticVariation disease BEFREE Tumour necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS) is a hereditary autoinflammatory disorder involving autosomal-dominant missense mutations in TNF receptor superfamily 1A (TNFRSF1A) ectodomains. 15312137 2004