Gene: PGAP3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064 2018
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. 26077850 2015
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. 24439110 2014
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR Fatty acid remodeling of GPI-anchored proteins is required for their raft association. 17314402 2007