KEGG   VARIANT: 55650v1
Entry
55650v1                      Variant                               
Name
PIGV deficiency
Type
Loss of function
Gene
PIGV  phosphatidylinositol glycan anchor biosynthesis class V [KO:K07542]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610274
Network
nt06018  GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
Reference
PMID:21739589
  Authors
Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P
  Title
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
  Journal
Am J Med Genet A 155A:1917-22 (2011)
DOI:10.1002/ajmg.a.34102
LinkDB

DBGET integrated database retrieval system