Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 ×
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 		A 0.800 CausalMutation CLINVAR Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 24129430 2014
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: 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: 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: 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: 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: 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