KEGG   VARIANT: 5970v1
Entry
5970v1                      Variant                                
Name
RELA mutation
Type
Loss of function
Gene
RELA  RELA proto-oncogene, NF-kB subunit [KO:K04735]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164014
Network
nt06516  TNF signaling
Disease
H02593  Chronic mucocutaneous ulceration
Reference
  Authors
Nigrovic PA, Lee PY, Hoffman HM
  Title
Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.
  Journal
J Allergy Clin Immunol 146:925-937 (2020)
DOI:10.1016/j.jaci.2020.08.017
Reference
  Authors
Rood JE, Behrens EM
  Title
Inherited Autoinflammatory Syndromes.
  Journal
Annu Rev Pathol 17:227-249 (2022)
DOI:10.1146/annurev-pathmechdis-030121-041528
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