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: C1866039
Disease: EPISODIC ATAXIA, TYPE 5
EPISODIC ATAXIA, TYPE 5 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 2 1 2000 2008
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.510 None 1.000 3 1 2000 2014
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.410 limited 1.000 1 1 2000 2000
CUI: C2750887
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 		disease Finding 1 2 0.400 None 1.000 1 2 2000 2000
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.400 None 1.000 1 2000 2000
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.320 disputed 1.000 7 1997 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.320 None 1.000 2 2000 2014
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.310 None 1.000 1 2000 2000
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.300 None 1.000 1 2000 2000
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy 		disease Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2000 2000
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.300 None 1.000 1 2000 2000
CUI: C0311334
Disease: Generalized convulsive epilepsy
Generalized convulsive epilepsy 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2000 2000
CUI: C0347869
Disease: Epilepsy, Akinetic
Epilepsy, Akinetic 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.300 None 1.000 1 2000 2000
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.300 None 1.000 1 2000 2000
CUI: C0086241
Disease: Epilepsy, Tonic
Epilepsy, Tonic 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C0086236
Disease: Epilepsy, Atonic
Epilepsy, Atonic 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C4553298
Disease: Impulsive Petit Mal Epilepsy
Impulsive Petit Mal Epilepsy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2000 2000
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.300 None 1.000 1 1 2000 2000
CUI: C4552768
Disease: Myoclonic Epilepsy, Adolescent
Myoclonic Epilepsy, Adolescent 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C0017332
Disease: Generalized Nonconvulsive Seizure Disorder
Generalized Nonconvulsive Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C4553087
Disease: Myoclonic Epilepsy, Juvenile, 1
Myoclonic Epilepsy, Juvenile, 1 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C4551857
Disease: Juvenile Myoclonic Epilepsy of Janz
Juvenile Myoclonic Epilepsy of Janz 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2000 2000
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0