KEGG   VARIANT: 5277v1
Entry
5277v1                      Variant                                
Name
PIGA deficiency
Type
Loss of function
Gene
PIGA  phosphatidylinositol glycan anchor biosynthesis class A [KO:K03857]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 311770
Network
nt06018  GPI-anchor biosynthesis
Disease
H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
Reference
PMID:22305531
  Authors
Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG
  Title
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
  Journal
Am J Hum Genet 90:295-300 (2012)
DOI:10.1016/j.ajhg.2011.11.031
LinkDB

DBGET integrated database retrieval system