KEGG   VARIANT: 7132v1
Entry
7132v1                      Variant                                
Name
TNFRSF1A mutation
Type
Loss of function
Gene
TNFRSF1A  TNF receptor superfamily member 1A [KO:K03158]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191190
Network
nt06516  TNF signaling
nt06527  Necroptosis
Disease
H00912  Tumor necrosis factor receptor-associated periodic syndrome
H01490  Multiple sclerosis
Reference
PMID:21284532
  Authors
Pettersson T, Kantonen J, Matikainen S, Repo H
  Title
Setting up TRAPS.
  Journal
Ann Med 44:109-18 (2012)
DOI:10.3109/07853890.2010.548399
Reference
PMID:32380704
  Authors
Cudrici C, Deuitch N, Aksentijevich I
  Title
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.
  Journal
Int J Mol Sci 21:E3263 (2020)
DOI:10.3390/ijms21093263
Reference
PMID:22801493
  Authors
Gregory AP, Dendrou CA, Attfield KE, Haghikia A, Xifara DK, Butter F, Poschmann G, Kaur G, Lambert L, Leach OA, Promel S, Punwani D, Felce JH, Davis SJ, Gold R, Nielsen FC, Siegel RM, Mann M, Bell JI, McVean G, Fugger L
  Title
TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis.
  Journal
Nature 488:508-511 (2012)
DOI:10.1038/nature11307
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