Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. 23561846

2013

Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 23561847

2013