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: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59 132 0.400 1.000 21 1991 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.440 1.000 5 1998 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.350 1.000 5 2006 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.630 1.000 4 2006 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 423 323 0.340 1.000 4 1999 2013
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 118 3 0.030 1.000 3 1991 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.020 1.000 2 1993 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.320 1.000 2 2001 2011
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 32 382 0.020 1.000 2 2010 2017
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.320 1.000 2 2015 2016
CUI: C0452047
Disease: Brain Injuries, Focal
Brain Injuries, Focal
group Nervous System Diseases; Wounds and Injuries Injury or Poisoning 69 0.300 1 2013 2013
CUI: C0393759
Disease: Transient Insomnia
Transient Insomnia
phenotype Mental Disorders; Nervous System Diseases Sign or Symptom 4 0.300 1 2002 2002
CUI: C0541798
Disease: Early Awakening
Early Awakening
phenotype Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 7 1 0.300 1 2002 2002
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.010 1 2007 2007
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 154 10 0.010 1.000 1 2015 2015
CUI: C0349255
Disease: Nonorganic Insomnia
Nonorganic Insomnia
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 4 0.300 1 2002 2002
CUI: C0272945
Disease: Brain Lacerations
Brain Lacerations
disease Nervous System Diseases; Wounds and Injuries Injury or Poisoning 69 0.300 1 2013 2013
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy
disease Nervous System Diseases Disease or Syndrome 5 0.010 1.000 1 1993 1993
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 34 30 0.010 1.000 1 2005 2005
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 49 9 0.010 1.000 1 2010 2010
CUI: C0270611
Disease: Brain Injuries
Brain Injuries
group Nervous System Diseases; Wounds and Injuries Injury or Poisoning 69 0.300 1 2013 2013
CUI: C0270541
Disease: Rebound Insomnia
Rebound Insomnia
phenotype Mental Disorders; Nervous System Diseases Sign or Symptom 4 0.300 1 2002 2002
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2005 2005
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2005 2005
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.010 1.000 1 1998 1998