Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		phenotype Finding 7 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C4531045
Disease: Reduced granulocyte CD59 level
Reduced granulocyte CD59 level 		phenotype Finding 1 0.100 None 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		disease Digestive System Diseases Disease or Syndrome 167 9 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 23 4 0.100 None 0
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 1 0.610 None 1.000 3 1 2006 2014
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.410 None 1.000 2 2006 2007
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2006 2006
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.300 None 1.000 1 2006 2006
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 117 0.300 None 1.000 1 2006 2006
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2006 2006
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2006 2006
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2006 2006
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2006 2006
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2006 2006
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2007 2007
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 174 4 0.300 None 1.000 1 2006 2006
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.400 None 1.000 1 2006 2006
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.300 None 1.000 1 2006 2006
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 123 3 0.300 None 1.000 1 2006 2006
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2006 2006
CUI: C4510605
Disease: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 moderate 1.000 1 2014 2014
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.010 None 1.000 1 2020 2020
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 None 1.000 1 2006 2006