KEGG   VARIANT: 56052v1
Entry
56052v1                      Variant                               
Name
ALG1 deficiency
Type
Loss of function
Gene
ALG1  ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [KO:K03842]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605907
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:14973782
  Authors
Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T
  Title
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
  Journal
Am J Hum Genet 74:545-51 (2004)
DOI:10.1086/382493
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