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.
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
disease Disease or Syndrome 3 43 0.600 strong 1.000 5 43 2013 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.430 None 1.000 4 2013 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 1.000 11 2012 2019
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
disease Nervous System Diseases Disease or Syndrome 16 0.400 None 1.000 1 2013 2013
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.360 None 1.000 7 2017 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.330 None 1.000 4 2014 2017
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.320 None 1.000 3 2013 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 2 2013 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2013 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2013 2018
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.300 strong 1.000 1 2014 2014
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
Familial Progressive Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 48 17 0.300 None 0
Action Myoclonus-Renal Failure Syndrome
disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.300 None 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 0.220 None 1.000 2 2008 2012
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.200 None 1.000 1 2008 2008
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 0.150 None 1.000 5 2013 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.140 None 1.000 4 2013 2015
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.110 None 1.000 1 2019 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 12 3 2007 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 12 1 2007 2017