Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). | 23894535 | 2013 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.380 | Biomarker | disease | GENOMICS_ENGLAND | The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists. | 17360963 | 2007 | ||||
|
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 |