KEGG   VARIANT: 6868v1
Entry
6868v1                      Variant                                
Name
ADAM17 mutation
Gene
ADAM17  ADAM metallopeptidase domain 17 [KO:K06059]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603639
Network
nt06511  NOTCH signaling
nt06535  Efferocytosis
Disease
H02467  Neonatal inflammatory skin and bowel disease
Reference
PMID:22010916
  Authors
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
  Title
Inflammatory skin and bowel disease linked to ADAM17 deletion.
  Journal
N Engl J Med 365:1502-8 (2011)
DOI:10.1056/NEJMoa1100721
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