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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
disease Disease or Syndrome 3 34 0.600 28 34 2004 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.500 0.919 39 4 2003 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 23 0.470 0.857 25 23 1989 2017
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 22 0.470 1.000 7 3 2002 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.450 strong 1.000 6 8 2013 2018
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 9 0.400 1.000 14 2004 2015
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 32 382 0.390 1.000 9 2006 2016
Generalized Epilepsy with Febrile Seizures Plus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 8 0.350 1.000 5 2002 2009
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 0.340 strong 1.000 4 2010 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.330 0.667 3 2 2014 2016
Early infantile epileptic encephalopathy with suppression bursts
disease Disease or Syndrome 30 86 0.330 1.000 3 2013 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.310 1.000 2 2017 2017
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 2 2007 2013
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 2 2007 2013
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 2 2007 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 1 2015 2015
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.300 1 2015 2015
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.200 0.952 23 3 2004 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.140 1.000 4 2006 2015
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.120 1.000 3 1 2010 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.120 1.000 2 1 2014 2016
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 47 12 0.110 2 1 2004 2015
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.110 < 0.001 1 2 2016 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2016 2016