Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Targeted therapy for inherited GPI deficiency. 17442906 2007
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 GermlineCausalMutation disease ORPHANET Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 GeneticVariation disease BEFREE Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency. 25293775 2014
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		0.610 Biomarker disease CTD_human
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.400 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.400 Biomarker disease HPO
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0751110
Disease: Single Seizure
Single Seizure 		0.300 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4510605
Disease: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 		0.300 Biomarker disease GENOMICS_ENGLAND Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency. 25293775 2014
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.110 Biomarker disease HPO
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.110 GeneticVariation disease BEFREE A mutation in the promoter of PIGM, resulting in a syndrome with portal vein thrombosis and persistent absence seizures, was previously described in three patients. 31445883 2020
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		0.100 Biomarker disease HPO
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.100 Biomarker disease HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Disrupted binding of the transcription factor Sp1 to the mutated promoter region of the mannosyl transferase-encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy. 17442906 2007
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.010 GeneticVariation disease BEFREE These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor. 16926129 2006
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 Biomarker disease BEFREE The patients described herein expand the phenotypic spectrum of PIGM deficiency to include macrocephaly and infantile-onset cerebrovascular thrombotic events. 31445883 2020
CUI: C0235574
Disease: Intravascular hemolysis
Intravascular hemolysis 		0.010 AlteredExpression disease BEFREE These findings explain intact PIGM transcription in IGD erythroid cells and the lack of clinically significant intravascular hemolysis in patients with IGD. 25293775 2014