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 0.530 strong 1.000 9 2010 2015
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 220 7 0.500 1 2009 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.430 1.000 4 2011 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
disease Disease or Syndrome 4 10 0.400 8 10 2008 2017
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 91 8 0.400 1 2011 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.400 1 2011 2011
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2011 2011
CUI: C0018672
Disease: Head Banging
Head Banging
phenotype Mental Disorders Mental or Behavioral Dysfunction 4 0.300 1 2011 2011
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2011 2011
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2011 2011
CUI: C0270823
Disease: Petit mal status
Petit mal status
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 75 0.300 1 2009 2009
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
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 0.300 1 2011 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.300 1 2009 2009
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2011 2011
CUI: C0005899
Disease: Body Rocking
Body Rocking
phenotype Mental Disorders Individual Behavior 3 0.300 1 2011 2011
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 limited 0
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
disease Disease or Syndrome 4 0.300 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
disease Disease or Syndrome 1 0.300 0