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: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		phenotype Nervous System Diseases Finding 1 3 0.100 None 1.000 4 3 2014 2016
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		disease Nervous System Diseases Disease or Syndrome 1 9 0.600 None 1.000 2 9 2014 2017
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		disease Finding 2 7 0.600 None 1.000 9 6 2002 2019
CUI: C0029376
Disease: Juvenile osteochondrosis of tibial tubercle
Juvenile osteochondrosis of tibial tubercle 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C0312422
Disease: Blackout - symptom
Blackout - symptom 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Sign or Symptom 4 0.010 None 1.000 1 2006 2006
CUI: C0700178
Disease: Alcoholic blackout
Alcoholic blackout 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2006 2006
CUI: C0729346
Disease: Osteochondritis juvenilis
Osteochondritis juvenilis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C4551857
Disease: Juvenile Myoclonic Epilepsy of Janz
Juvenile Myoclonic Epilepsy of Janz 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4552768
Disease: Myoclonic Epilepsy, Adolescent
Myoclonic Epilepsy, Adolescent 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4553087
Disease: Myoclonic Epilepsy, Juvenile, 1
Myoclonic Epilepsy, Juvenile, 1 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4553298
Disease: Impulsive Petit Mal Epilepsy
Impulsive Petit Mal Epilepsy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0393615
Disease: Familial Tremor
Familial Tremor 		disease Nervous System Diseases Disease or Syndrome 5 1 0.300 None 1.000 1 2005 2005
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures 		phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		disease Disease or Syndrome 6 5 0.300 None 1.000 1 2006 2006
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		phenotype Finding 6 0.100 None 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		phenotype Finding 7 0.100 None 0
CUI: C1963933
Disease: Punding
Punding 		disease Mental Disorders Mental or Behavioral Dysfunction 7 0.100 None 0
CUI: C0029429
Disease: Osteochondrosis
Osteochondrosis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 2006 2006
CUI: C0679136
Disease: Low self-esteem
Low self-esteem 		phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		phenotype Finding 10 0.100 None 0
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.100 None 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0751197
Disease: Fulminant Hepatic Failure with Cerebral Edema
Fulminant Hepatic Failure with Cerebral Edema 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2005 2005
CUI: C0751198
Disease: Hepatic Stupor
Hepatic Stupor 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2005 2005