rs104895225, TNFRSF1A

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673 2004
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 GeneticVariation UNIPROT Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 13130484 2003
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 GeneticVariation UNIPROT The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. 11443543 2001
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 GeneticVariation UNIPROT A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. 10902757 2000
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409 1999
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
0.800 CausalMutation CLINVAR