Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		0.300 Biomarker phenotype 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: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		0.300 Biomarker phenotype 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: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4048158
Disease: Convulsions
Convulsions 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.300 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		0.300 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 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