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: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		disease Disease or Syndrome 3 43 0.600 strong 1.000 5 43 2013 2017
CUI: C4023471
Disease: EEG with abnormally slow frequencies
EEG with abnormally slow frequencies 		phenotype Pathologic Function 3 1 0.100 None 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.200 None 1.000 1 2008 2008
CUI: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		disease Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C4023684
Disease: EEG with spike-wave complexes (>3.5 Hz)
EEG with spike-wave complexes (>3.5 Hz) 		phenotype Finding 5 0.100 None 0
CUI: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive 		disease Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY 		disease Disease or Syndrome 6 16 0.010 None 1.000 1 2015 2015
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		phenotype Finding 6 0.100 None 0
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2015 2015
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
Photosensitive tonic-clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 16 0.400 None 1.000 1 2013 2013
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.320 None 1.000 3 2013 2018
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2018 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 3 2018 2018