KEGG   VARIANT: 84720v1
Entry
84720v1                      Variant                               
Name
PIGO deficiency
Type
Loss of function
Gene
PIGO  phosphatidylinositol glycan anchor biosynthesis class O [KO:K05288]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614730
Network
nt06018  GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
Reference
PMID:22683086
  Authors
Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
  Title
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
  Journal
Am J Hum Genet 91:146-51 (2012)
DOI:10.1016/j.ajhg.2012.05.004
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