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: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 2001 2001
Paroxysmal kinesigenic choreoathetosis
disease Nervous System Diseases Disease or Syndrome 14 6 0.010 None 1.000 1 2001 2001
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 0.010 None 1.000 1 2001 2001
CUI: C0684219
Disease: Myokymia
Myokymia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.010 None 1.000 1 2001 2001
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.010 None 1.000 1 2001 2001
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2001 2001
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine
disease Nervous System Diseases Disease or Syndrome 10 14 0.010 None 1.000 1 2001 2001
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.010 None 1.000 1 2001 2001
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.010 None 1.000 1 2008 2008
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.010 None 1.000 1 2001 2001
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 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 0.010 None 1.000 1 2001 2001
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2001 2001
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2001 2001