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.
CUI: C0234516
Disease: Speech dysfunction
Speech dysfunction 		phenotype Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2015 2015
CUI: C4749281
Disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		disease Disease or Syndrome 2 38 0.600 strong 1.000 12 37 2010 2017
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		disease Nervous System Diseases Mental or Behavioral Dysfunction 2 0.640 None 1.000 6 2013 2018
CUI: C0027438
Disease: Nasopharyngeal Diseases
Nasopharyngeal Diseases 		group Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1112263
Disease: Atypical benign partial epilepsy
Atypical benign partial epilepsy 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0233726
Disease: Aprosodia
Aprosodia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2013 2013
CUI: C0751512
Disease: Dysglossia
Dysglossia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2013 2013
CUI: C0751513
Disease: Rhinolalia
Rhinolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2013 2013
CUI: C0751514
Disease: Verbal Fluency Disorders
Verbal Fluency Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C4023478
Disease: EEG with focal sharp waves
EEG with focal sharp waves 		phenotype Finding 3 0.100 None 0
CUI: C3495145
Disease: Dyslalia
Dyslalia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.300 None 1.000 1 2013 2013
CUI: C4024906
Disease: Hemifacial seizures
Hemifacial seizures 		disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C3806403
Disease: Continuous spike and waves during slow sleep
Continuous spike and waves during slow sleep 		disease Disease or Syndrome 5 2 0.120 None 1.000 2 2012 2013
CUI: C4022848
Disease: EEG with centrotemporal focal spike waves
EEG with centrotemporal focal spike waves 		phenotype Finding 5 1 0.100 None 0
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 13 0.010 None 1.000 1 2018 2018
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		phenotype Finding 6 4 0.100 None 0
CUI: C0348165
Disease: Central Nervous System Viral Diseases
Central Nervous System Viral Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 7 0.200 None 1.000 1 2009 2009
CUI: C1838027
Disease: Incomprehensible speech
Incomprehensible speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 0.100 None 0
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		phenotype Finding 7 1 0.100 None 0
CUI: C0009090
Disease: Cluttering
Cluttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 0.300 None 1.000 1 2013 2013
CUI: C0600272
Disease: Morphine Abuse
Morphine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 1 2003 2003
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		disease Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 1 2013 2013