TNF, tumor necrosis factor, 7124

N. diseases: 2724; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015974
Disease: Periodic fever
Periodic fever
0.030 GeneticVariation disease BEFREE To report a novel mutation of the TNF receptor type 1 gene (TNFRSF1A) in a Finnish patient and her mother, both suffering from periodic fever. 15228183 2004
CUI: C0015974
Disease: Periodic fever
Periodic fever
0.030 GeneticVariation disease BEFREE The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor-associated periodic syndrome. 11700162 2001
CUI: C0015974
Disease: Periodic fever
Periodic fever
0.030 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