TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Disease: TNF receptor-associated periodic fever syndrome (TRAPS) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895238
rs104895238
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.020 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450 2010
dbSNP: rs104895238
rs104895238
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.020 GeneticVariation BEFREE Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS). 15228183 2004