Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606951
rs267606951
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267606952
rs267606952
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1865014
Disease:
Long philtrum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1865017
Disease:
Thin upper lip vermilion 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C0423109
Disease:
Upward slant of palpebral fissure 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1314665
Disease:
Serum alkaline phosphatase raised 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1854114
Disease:
Short nose 		A 0.700 CausalMutation CLINVAR
dbSNP: rs376328153
rs376328153
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907023
rs387907023
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs759988046
rs759988046
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.800 CausalMutation CLINVAR Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.800 GeneticVariation UNIPROT Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
dbSNP: rs267606951
rs267606951
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.800 GeneticVariation UNIPROT Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
dbSNP: rs267606952
rs267606952
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.800 GeneticVariation UNIPROT Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		A 0.700 GeneticVariation CLINVAR Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.800 CausalMutation CLINVAR Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. 21739589 2011
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		A 0.700 GeneticVariation CLINVAR Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. 21739589 2011
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.800 CausalMutation CLINVAR Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 22228761 2012
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		A 0.700 GeneticVariation CLINVAR Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 22228761 2012
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C4551502
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		A 0.800 CausalMutation CLINVAR Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). 22315194 2012
dbSNP: rs139073416
rs139073416
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		A 0.700 GeneticVariation CLINVAR Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). 22315194 2012
dbSNP: rs1450982775
rs1450982775
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		0.010 GeneticVariation BEFREE We developed a diagnostic gene panel for targeting all known genes encoding proteins in the GPI-anchor-synthesis pathway to screen individuals matching these features, and we detected three missense mutations in PGAP2, c.46C>T, c.380T>C, and c.479C>T, in two unrelated individuals with hyperphosphatasia with mental retardation syndrome (HPMRS). 23561847 2013