Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.360 | GeneticVariation | phenotype | BEFREE | In contrast, mutations in the IL-12 and IFNgamma receptor (and possibly the endotoxin receptor) genes are associated with recurrent bacterial infections, whereas TNFR1 mutations cause fever of unknown origin. | 10786965 | 2000 | ||||
|
0.360 | GeneticVariation | phenotype | BEFREE | Inclusion criteria were TNFRSF1A mutation-positive patients < or =16 years of age, more than three self-limiting episodes of fever >38.5 degrees C, and increased inflammation markers. | 19541728 | 2009 | ||||
|
0.360 | Biomarker | phenotype | BEFREE | Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. | 12105243 | 2002 | ||||
|
0.360 | GeneticVariation | phenotype | BEFREE | Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder characterized by periodic attacks of fever and inflammation, due to mutations in the gene coding for the TNF type I receptor (TNFRSF1A). | 16420550 | 2006 | ||||
|
0.360 | GeneticVariation | phenotype | BEFREE | TNF-receptor-associated periodic syndrome (TRAPS) is a hereditary fever syndrome that results from mutations in the TNF-receptor superfamily 1A gene (TNFRSF1A). | 16030167 | 2005 | ||||
|
0.360 | Biomarker | phenotype | CTD_human | Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. | 11175303 | 2001 | ||||
|
0.360 | GeneticVariation | phenotype | LHGDN | Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family. | 17564788 | 2007 |