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 32 382 1.000 0.968 216 379 2001 2018
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 68 0.830 1.000 45 68 1993 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.610 strong 1.000 2 2012 2017
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
disease Nervous System Diseases Disease or Syndrome 1 5 0.600 6 5 2005 2015
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 15 0.600 1 11 2010 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.500 0.942 158 7 2001 2018
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 22 0.500 0.973 44 6 2002 2017
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 32 0.500 31 32 2001 2012
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 54 15 0.500 1.000 18 2 2003 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.500 strong 1.000 15 2 2008 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 168 6 0.410 1.000 2 2003 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.410 1.000 2 2011 2013
Generalized Epilepsy with Febrile Seizures Plus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 8 0.400 1.000 28 4 2001 2017
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 42 2 0.400 0.667 20 2002 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2017 2017
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine
disease Disease or Syndrome 8 5 0.360 1.000 6 1 2008 2015
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.330 1.000 6 2006 2017
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.320 1.000 2 2010 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.310 1.000 4 2005 2013
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy
disease Nervous System Diseases Disease or Syndrome 5 0.310 1.000 2 2010 2011
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 3 2005 2013
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 3 2005 2013
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.300 3 2011 2015
CUI: C3496069
Disease: cocaine use
cocaine use
disease Mental or Behavioral Dysfunction 22 5 0.300 1.000 1 2004 2004
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 9 0.300 1 2011 2011