KEGG   VARIANT: 6772v1
Entry
6772v1                      Variant                                
Name
STAT1 mutation
Type
Loss of function
Gene
STAT1  signal transducer and activator of transcription 1 [KO:K11220]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600555
Network
nt06518  JAK-STAT signaling
Disease
H00089  IFN-gamma/IL-12 axis
H01109  Chronic mucocutaneous candidiasis
Reference
PMID:34625141
  Authors
Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM
  Title
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
  Journal
J Allergy Clin Immunol 148:911-925 (2021)
DOI:10.1016/j.jaci.2021.08.004
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