KEGG   VARIANT: 5279v1
Entry
5279v1                      Variant                                
Name
PIGC deficiency
Type
Loss of function
Gene
PIGC  phosphatidylinositol glycan anchor biosynthesis class C [KO:K03859]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601730
Network
nt06018  GPI-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
Reference
  Authors
Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O
  Title
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
  Journal
J Med Genet 54:196-201 (2017)
DOI:10.1136/jmedgenet-2016-104202
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