Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation 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
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation CLINVAR Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 27120253

2016