KEGG   VARIANT: 440138v1
Entry
440138v1                      Variant                              
Name
ALG11 deficiency
Type
Loss of function
Gene
ALG11  ALG11 alpha-1,2-mannosyltransferase [KO:K03844]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613666
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:22213132
  Authors
Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Korner C
  Title
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
  Journal
Hum Mutat 33:485-7 (2012)
DOI:10.1002/humu.22019
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