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: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		disease Nervous System Diseases Disease or Syndrome 1 9 0.600 None 1.000 2 9 2014 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.410 moderate 1.000 2 7 2013 2019
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		disease Finding 2 7 0.600 None 1.000 9 6 2002 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 1.000 9 3 2006 2019
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.130 None 1.000 7 3 2002 2016
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		phenotype Nervous System Diseases Finding 1 3 0.100 None 1.000 4 3 2014 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 2 3 2010 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 3 2016 2016
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 0.110 None 1.000 1 2 2019 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 11 1 1997 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 1997 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 11 1 1997 2016
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.670 None 1.000 9 1 2002 2019
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 122 79 0.320 None 1.000 3 1 2005 2011
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.510 None 1.000 2 1 2005 2014
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.010 None 1.000 1 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		phenotype Nervous System Diseases Finding 14 9 0.100 None 0 1
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.240 None 1.000 6 2012 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.350 None 0.500 5 2005 2017
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.340 None 0.750 4 1998 2004
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.040 None 1.000 4 2016 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.340 None 0.667 4 2003 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.330 None 1.000 3 2010 2016