PGAP2, post-GPI attachment to proteins 2, 27315

N. diseases: 87; N. variants: 6
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774843232
rs774843232
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE We performed autozygosity mapping and ultra-deep sequencing followed by stringent filtering and identified two homozygous PGAP2 alterations, p.Tyr99Cys and p.Arg177Pro, in seven offspring with nonspecific autosomal-recessive intellectual disability from two consanguineous families. 23561846 2013