PGAP2, post-GPI attachment to proteins 2, 27315

N. diseases: 87; N. variants: 6
Disease: Hyperphosphatasia with Mental Retardation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255233
rs879255233
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		0.010 GeneticVariation BEFREE We developed a diagnostic gene panel for targeting all known genes encoding proteins in the GPI-anchor-synthesis pathway to screen individuals matching these features, and we detected three missense mutations in PGAP2, c.46C>T, c.380T>C, and c.479C>T, in two unrelated individuals with hyperphosphatasia with mental retardation syndrome (HPMRS). 23561847 2013