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 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 GENOMICS_ENGLAND Targeted therapy for inherited GPI deficiency. 17442906 2007
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 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 CTD_human
CUI: C0036572
Disease: Seizures
Seizures 		0.410 GeneticVariation phenotype BEFREE A recent study identified a novel autosomal recessively inherited form of GPI-deficiency involving a mutation in a promotor component of the pig-m gene and characterized by a thrombotic tendency and seizures. 17549742 2007
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.400 Biomarker phenotype 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 CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.400 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.400 Biomarker phenotype HPO
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.400 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.400 Biomarker phenotype HPO
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: 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: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006