Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease BEFREE Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. 31698102 2019
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease BEFREE The novel mutations of PIGV and PIGO, and novel clinical manifestations reported here might expand the genotype and phenotype spectrum of Mabry syndrome. 27177984 2016
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease BEFREE Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in fatty-acid GPI-anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS). 24417746 2014
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease BEFREE Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GermlineCausalMutation disease ORPHANET Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease CLINVAR
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 Biomarker disease CTD_human
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease UNIPROT PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 CausalMutation disease CLINVAR PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 28337824 2017
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 28337824 2017
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease CLINVAR PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 24417746 2014
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 24129430 2014
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Vitamin B6-responsive epilepsy due to inherited GPI deficiency. 24049131 2013
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.600 GeneticVariation disease CLINVAR Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.110 Biomarker disease BEFREE Compared with PIGA (phosphatidylinositol glycan anchor biosynthesis class A) deficiency, PIGO deficiency shows characteristic features, such as Hirschsprung disease, brachytelephalangy, and hyperphosphatasia. 28337824 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 24417746 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease BEFREE Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP). 23561846 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.110 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO