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: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
disease Nervous System Diseases Disease or Syndrome 18 14 0.020 0.500 2 1 2015 2016
CUI: C3538999
Disease: DYSTONIA 23
DYSTONIA 23
disease Disease or Syndrome 2 1 0.400 2 1 2011 2015
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 308 66 0.300 1 2012 2012
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.010 1.000 1 2017 2017
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
disease Disease or Syndrome 18 1 0.100 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Finding 194 2 0.100 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
phenotype Finding 3 0.100 0
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.420 1.000 3 1 2011 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.310 1.000 1 2011 2011
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Mental or Behavioral Dysfunction 31 1 0.100 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.310 1.000 1 2017 2017
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 153 11 0.100 0
CUI: C0040485
Disease: Torticollis
Torticollis
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 28 0.100 0
CUI: C0152116
Disease: Spasmodic torticollis
Spasmodic torticollis
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.100 0
CUI: C0239882
Disease: Head tremor
Head tremor
phenotype Sign or Symptom 6 0.100 0
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 0
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.400 0
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 34 3 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0