KEGG   VARIANT: 64127v1
Entry
64127v1                      Variant                               
Name
NOD2 mutation
Type
Loss of function
Gene
NOD2  nucleotide binding oligomerization domain containing 2 [KO:K10165]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605956
Network
nt06521  NLR signaling
Disease
H01227  Inflammatory bowel disease (IBD)
Reference
PMID:19381138
  Authors
Philpott DJ, Girardin SE
  Title
Crohn's disease-associated Nod2 mutants reduce IL10 transcription.
  Journal
Nat Immunol 10:455-7 (2009)
DOI:10.1038/ni0509-455
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
LinkDB

DBGET integrated database retrieval system