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: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease Nervous System Diseases Disease or Syndrome 2 392 0.800 None 1.000 46 390 2000 2018
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 58 0.730 None 1.000 32 58 2000 2012
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		disease Nervous System Diseases Disease or Syndrome 1 14 0.700 moderate 1.000 17 14 2000 2018
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 24 0.700 None 0.939 3 4 2002 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: 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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.500 None 0.977 4 2 2001 2020
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 6 18 0.500 None 1.000 1 1 2003 2020
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 8 111 0.420 strong 1.000 2 59 2001 2019
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: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 29 240 0.410 None 1.000 1 2 1997 2014
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 9 0.400 None 1.000 1 2002 2011
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.330 None 1.000 1 2016 2019
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: 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: 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: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.310 None 1.000 4 2005 2018
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy 		disease Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2009 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 4 2005 2018
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 4 2005 2018
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: C0086241
Disease: Epilepsy, Tonic
Epilepsy, Tonic 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011