KEGG   VARIANT: 78989v1
Entry
78989v1                      Variant                               
Name
COLEC11 mutation
Type
Loss of function
Gene
COLEC11  collectin subfamily member 11 [KO:K10066]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612502
Network
nt06513  Complement cascade
Disease
H01887  3MC syndrome
Reference
PMID:21258343
  Authors
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL
  Title
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
  Journal
Nat Genet 43:197-203 (2011)
DOI:10.1038/ng.757
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