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 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 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 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 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: 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: 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: 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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 Biomarker group 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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations. 31698102 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. 28545593 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. 28900819 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Our findings therefore expand the clinical spectrum of GPI-anchor deficiencies involving PIGO mutations to include epileptic encephalopathy with mild elevation of ALP. 24417746 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.020 GeneticVariation disease BEFREE PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 24417746 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.020 GeneticVariation disease BEFREE We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations. 31698102 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 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: C0302142
Disease: Deformity
Deformity 		0.010 Biomarker group 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.010 GeneticVariation disease BEFREE A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. 28900819 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 24417746 2014
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.010 GeneticVariation disease BEFREE Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. 28545593 2017
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 Biomarker disease BEFREE PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		0.010 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: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.640 GeneticVariation disease CLINVAR
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 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 CLINVAR Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012