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: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.020 None 1.000 2 1 2003 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 1.000 2 2016 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2005 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.020 None 1.000 2 1 2007 2010
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.020 None 1.000 2 1 1997 2005
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2005 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.020 None 1.000 2 2010 2017
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.020 None 1.000 2 2010 2017
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 3 0.310 None 1.000 2 1 2008 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2010 2019
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 1 2011 2011
CUI: C0021603
Disease: Sleep Initiation and Maintenance Disorders
Sleep Initiation and Maintenance Disorders 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 15 26 0.300 None 1.000 1 2002 2002
CUI: C0033139
Disease: Primary Insomnia
Primary Insomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 7 2 0.300 None 1.000 1 2002 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2007 2007
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2016 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.010 None 1.000 1 1998 1998
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.010 None 1.000 1 2013 2013
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1993 1993
CUI: C0349255
Disease: Nonorganic Insomnia
Nonorganic Insomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.300 None 1.000 1 2002 2002
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2007 2007
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0751249
Disease: Chronic Insomnia
Chronic Insomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 6 3 0.300 None 1.000 1 2002 2002
CUI: C0751250
Disease: Psychophysiological Insomnia
Psychophysiological Insomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 5 0.300 None 1.000 1 2002 2002
CUI: C0751252
Disease: Sleep Initiation Dysfunction
Sleep Initiation Dysfunction 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.300 None 1.000 1 2002 2002