Source: CURATED ×
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: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 0.900 definitive 0.974 17 2001 2020
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 1 0.600 definitive 0.983 15 2000 2017
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 4 2005 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.310 None 1.000 4 2005 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 4 2005 2018
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.320 None 1.000 3 2005 2014
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.330 None 1.000 3 2005 2017
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.320 None 1.000 2 2007 2017
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease Nervous System Diseases Disease or Syndrome 6 30 0.300 strong 1.000 2 2017 2019
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 16 0.300 strong 1.000 2 2017 2019
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2011 2011
CUI: C0311334
Disease: Generalized convulsive epilepsy
Generalized convulsive epilepsy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.420 None 1.000 1 2012 2017
CUI: C0751120
Disease: Benign Infantile Myoclonic Epilepsy
Benign Infantile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2011 2011
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		disease Nervous System Diseases Disease or Syndrome 10 6 0.300 None 1.000 1 2011 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2017 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.330 None 1.000 1 2016 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 85 75 0.530 None 1.000 1 2011 2018
CUI: C3496069
Disease: cocaine use
cocaine use 		disease Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2003 2003
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 11 0.320 None 1.000 1 2005 2011
CUI: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2011 2011
CUI: C0086241
Disease: Epilepsy, Tonic
Epilepsy, Tonic 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 9 0.400 None 1.000 1 2002 2011
CUI: C0017332
Disease: Generalized Nonconvulsive Seizure Disorder
Generalized Nonconvulsive Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011