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: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.110 None < 0.001 1 2015 2015
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.010 None 1.000 1 1 2017 2017
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.200 None 1.000 1 2018 2018
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
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.300 None 1.000 1 2013 2013
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.010 None 1.000 1 2017 2017
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.310 None 1.000 1 2013 2013
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.010 None 1.000 1 1 2012 2012
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: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.300 None 1.000 1 2013 2013
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2013 2013
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 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: 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: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.010 None 1.000 1 2015 2015
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.010 None 1.000 1 2017 2017
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0392699
Disease: Dysesthesia
Dysesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 3 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0