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: 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 0.440 strong 1.000 4 2013 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.430 1.000 4 2014 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.430 strong 1.000 3 2013 2015
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
disease Nervous System Diseases Disease or Syndrome 12 0.410 1.000 1 2016 2016
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
disease Disease or Syndrome 2 26 0.400 6 26 1993 2017
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 87 5 0.400 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.380 1.000 8 2012 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 0.310 1.000 1 2014 2014
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2013 2013
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2013 2013
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2013 2013
Familial Progressive Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 0.300 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome
disease Nervous System Diseases Disease or Syndrome 17 0.300 0
Action Myoclonus-Renal Failure Syndrome
disease Nervous System Diseases Disease or Syndrome 19 19 0.300 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
disease Nervous System Diseases Disease or Syndrome 17 0.300 0
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 65 1 0.300 0
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease
disease Nervous System Diseases Disease or Syndrome 17 0.300 0
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 31 142 0.220 1.000 2 2008 2012
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.200 1 2008 2008
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.140 1.000 4 2013 2016
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.110 1.000 1 2012 2012
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 12 2 2007 2018
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
phenotype Finding 11 1 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0