Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominantly inherited autoinflammatory disease caused by mutations of the TNFRSF1A gene. 31562507 2019
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. 27990755 2017
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE To elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan using data obtained from a nationwide survey conducted by the Ministry of Health, Labor, and Welfare of Japan study group for tumor necrosis factor receptor-associated periodic syndrome (TRAPS). 27332769 2016
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disease caused by mutations in the TNFRSF1A gene. 26048626 2015
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. 24935411 2014
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA). 21225694 2011
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations). 21724465 2011
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene which encodes the tumor necrosis factor (TNF) receptor, TNFR1. 21420073 2011
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Autoinflammatory syndromes include familial Mediterranean fever (FMF), due to mutations in the MEFV gene, and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), due to mutations in the TNFRSF1A gene. 20074469 2010
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), an autosomal disease belonging to human autoinflammatory syndromes, is caused by mutations in Tumor Necrosis Factor Receptor Superfamily Member 1A (TNFRSF1A) gene. 19823838 2010
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line. 19116900 2009
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene. 18163488 2008
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominantly inherited autoinflammatory disorder caused by mutations in the TNFRSF1A gene. 17665448 2007
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS). 15570662 2004
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 Biomarker disease BEFREE Molecular defects of TNFRSF1A was investigated in members of a family presenting with typical phenotypes of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and in patients with the autoimmune disorders, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). 15492850 2004
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in TNFRSF1A, the gene that encodes the 55-kd tumor necrosis factor receptor. 12209524 2002
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. 11817598 2002
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 Biomarker disease BEFREE A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. 11318938 2001
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. 11175303 2001
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inflammatory disorder characterized by prolonged episodes of periodic fever and localized inflammation and dominantly inherited mutations in TNFRSF1A, the gene encoding the 55-kDa tumor necrosis factor receptor. 11115159 2000