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
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		disease Disease or Syndrome 1 65 0.700 None 1.000 38 65 2004 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 34 2 1991 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 34 2 1991 2017
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 0.944 18 7 2004 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
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: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.090 None 1.000 9 1 2006 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 0.190 None 1.000 9 2010 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.090 None 1.000 9 2 2014 2018
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 13 13 0.380 None 1.000 8 1 2002 2014
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.360 None 1.000 8 2017 2019
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
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: 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: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.060 None 1.000 6 2014 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
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
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