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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.500 None 0.942 52 8 2003 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
disease Disease or Syndrome 1 65 0.700 None 1.000 38 65 2004 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 34 2 1991 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 46 0.660 None 0.970 33 46 2001 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 19 13 0.600 strong 1.000 19 2002 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 1.000 13 2013 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.400 None 1.000 12 1 2006 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Nervous System Diseases Disease or Syndrome 57 43 0.090 None 1.000 9 1 2006 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.090 None 1.000 9 2012 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.180 None 1.000 8 13 2013 2019
Generalized Epilepsy with Febrile Seizures Plus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.380 None 1.000 8 1 2002 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.460 None 1.000 7 3 2013 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease Nervous System Diseases Disease or Syndrome 184 35 0.070 None 1.000 7 1 2004 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.070 None 1.000 7 2013 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.450 None 0.833 6 5 2002 2015
Early infantile epileptic encephalopathy with suppression bursts
disease Nervous System Diseases Disease or Syndrome 81 10 0.360 None 1.000 6 2013 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.150 None 1.000 5 2 2014 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.040 None 1.000 4 1 2014 2019
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 4 0.040 None 1.000 4 2010 2018
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.140 None 1.000 4 2 2010 2019
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.040 None 1.000 4 3 2013 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 3 2006 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.030 None 0.667 3 2 2001 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 3 2006 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.120 None 1.000 2 2 2004 2019