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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.430 strong 1.000 4 2 2013 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2008 2008
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: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.600 0.833 14 1 1998 2014
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 59 15 0.400 0.909 11 2 1999 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
disease Disease or Syndrome 1 6 0.600 6 6 2013 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.330 1.000 5 1 2002 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.440 1.000 5 1998 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.330 1.000 5 1 2002 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.350 1.000 5 2006 2015
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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.630 1.000 4 2006 2012
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
phenotype Finding 1 2 0.400 4 2 2008 2017
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: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 180 11 0.020 1.000 2 1 2003 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.320 1.000 2 2001 2011
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 33 6 0.020 1.000 2 1 2002 2013
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: 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: 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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 128 7 0.010 1.000 1 1993 1993
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2005 2005
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: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.010 1.000 1 2016 2016
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 32 0.010 1.000 1 2013 2013