KEGG   VARIANT: 284098v1
Entry
284098v1                      Variant                              
Name
PIGW deficiency
Type
Loss of function
Gene
PIGW  phosphatidylinositol glycan anchor biosynthesis class W [KO:K05283]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610275
Network
nt06018  GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
Reference
PMID:24367057
  Authors
Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y
  Title
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
  Journal
J Med Genet 51:203-7 (2014)
DOI:10.1136/jmedgenet-2013-102156
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