KEGG   VARIANT: 149233v1
Entry
149233v1                      Variant                              
Name
IL23R mutation
Type
Loss of function
Gene
IL23R  interleukin 23 receptor [KO:K05065]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607562
Network
nt06518  JAK-STAT signaling
Disease
H01227  Inflammatory bowel disease (IBD)
Reference
PMID:26257098
  Authors
de Lange KM, Barrett JC
  Title
Understanding inflammatory bowel disease via immunogenetics.
  Journal
J Autoimmun 64:91-100 (2015)
DOI:10.1016/j.jaut.2015.07.013
Reference
PMID:18500230
  Authors
Cho JH
  Title
The genetics and immunopathogenesis of inflammatory bowel disease.
  Journal
Nat Rev Immunol 8:458-66 (2008)
DOI:10.1038/nri2340
Reference
PMID:24751956
  Authors
Neurath MF
  Title
Cytokines in inflammatory bowel disease.
  Journal
Nat Rev Immunol 14:329-42 (2014)
DOI:10.1038/nri3661
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