Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312812
rs869312812
PGAP3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		TG 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
dbSNP: rs869312812
rs869312812
PGAP3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		TG 0.700 CausalMutation CLINVAR Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 27120253

2016