Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 24129430 2014
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 CausalMutation disease CLINVAR Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 24129430 2014
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 24129430 2014
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 CausalMutation disease CLINVAR Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 22228761 2012
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 CausalMutation disease CLINVAR Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). 22315194 2012
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 CausalMutation disease CLINVAR Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. 21739589 2011
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 CausalMutation disease CLINVAR Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 20802478 2010
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		0.600 GeneticVariation disease CLINVAR