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: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 15 1.000 None 0.974 39 15 1994 2018
CUI: C0684219
Disease: Myokymia
Myokymia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.680 strong 1.000 9 1994 2018
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.500 strong 1.000 16 1994 2017
CUI: C1834559
Disease: Continuous Muscle Fiber Activity, Hereditary
Continuous Muscle Fiber Activity, Hereditary 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.500 None 1.000 3 2003 2012
CUI: C2674766
Disease: Myokymia 1
Myokymia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 3 0.300 None 1.000 2 3 2003 2012
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease Nervous System Diseases Disease or Syndrome 14 6 0.300 None 1.000 1 2018 2018
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 81 10 0.300 None 1.000 1 2018 2018
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.280 None 1.000 8 2 2001 2019
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.220 None 1.000 4 2003 2012
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2012 2012
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.200 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.150 None 1.000 5 2 2001 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.150 None 1.000 5 2009 2019
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.110 None 1.000 1 2020 2020
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.110 None 1.000 1 2001 2001
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.110 None 1.000 1 2001 2001
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.110 None 1.000 1 1 2016 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 2001 2001
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0