KEGG   VARIANT: 79796v1
Entry
79796v1                      Variant                               
Name
ALG9 deficiency
Type
Loss of function
Gene
ALG9  ALG9 alpha-1,2-mannosyltransferase [KO:K03846]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606941
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:15945070
  Authors
Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N
  Title
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
  Journal
Am J Med Genet A 136:194-7 (2005)
DOI:10.1002/ajmg.a.30851
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