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: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.900 definitive 0.974 269 25 2001 2020
Early Infantile Epileptic Encephalopathy 6
disease Nervous System Diseases Disease or Syndrome 4 392 0.800 None 1.000 75 390 2000 2018
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 58 0.730 None 1.000 39 58 2000 2012
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.700 None 0.939 49 9 2002 2020
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
disease Nervous System Diseases Disease or Syndrome 2 14 0.700 moderate 1.000 17 14 2000 2018
Generalized Epilepsy with Febrile Seizures Plus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.600 definitive 0.983 58 6 2000 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.530 None 1.000 4 1 2011 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.500 None 0.977 175 14 2001 2020
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.500 None 1.000 20 4 2003 2020
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.420 strong 1.000 40 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 2165 159 0.420 None 1.000 3 2012 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.410 None 1.000 21 2 1997 2014
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 71 9 0.400 None 1.000 19 2002 2011
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.360 None 1.000 6 3 2001 2020
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.330 None 1.000 6 2005 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.330 None 1.000 4 2016 2019
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 19 1 0.320 None 1.000 5 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 25 2 0.320 None 1.000 3 2007 2017
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
disease Nervous System Diseases Disease or Syndrome 16 0.320 None 1.000 3 2005 2011
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.310 None 1.000 5 2005 2018
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy
disease Nervous System Diseases Disease or Syndrome 5 0.310 None 1.000 2 2009 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 4 2005 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 4 2005 2018
Early infantile epileptic encephalopathy with suppression bursts
disease Nervous System Diseases Disease or Syndrome 81 10 0.300 strong 1.000 2 2017 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
disease Nervous System Diseases Disease or Syndrome 12 30 0.300 strong 1.000 2 2017 2019