PGAP2, post-GPI attachment to proteins 2, 27315

N. diseases: 87; N. variants: 6
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. 27871432 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group BEFREE Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as Mabry syndrome, a rare autosomal recessive form of intellectual disability. 24129430 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. 23561846 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group GENOMICS_ENGLAND