KEGG   VARIANT: 80055v1
Entry
80055v1                      Variant                               
Name
PGAP1 deficiency
Type
Loss of function
Gene
PGAP1  post-GPI attachment to proteins inositol deacylase 1 [KO:K05294]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611655
Network
nt06018  GPI-anchor biosynthesis
Disease
H01485  Autosomal recessive mental retardation-42
Reference
PMID:25804403
  Authors
Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB
  Title
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
  Journal
Eur J Hum Genet 23:1689-93 (2015)
DOI:10.1038/ejhg.2015.42
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