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 CTD_human
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
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: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.110 Biomarker disease HPO
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C4531045
Disease: Reduced granulocyte CD59 level
Reduced granulocyte CD59 level 		0.100 Biomarker phenotype HPO
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		0.100 Biomarker phenotype HPO
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: C0036572
Disease: Seizures
Seizures 		0.410 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 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: 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