KEGG   VARIANT: 9487v1
Entry
9487v1                      Variant                                
Name
PIGL deficiency
Type
Loss of function
Gene
PIGL  phosphatidylinositol glycan anchor biosynthesis class L [KO:K03434]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605947
Network
nt06018  GPI-anchor biosynthesis
Disease
H01487  CHIME syndrome
Reference
PMID:22444671
  Authors
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH
  Title
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
  Journal
Am J Hum Genet 90:685-8 (2012)
DOI:10.1016/j.ajhg.2012.02.010
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