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: C0234377
Disease: Passive Tremor
Passive Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234381
Disease: Darkness Tremor
Darkness Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0235078
Disease: Tremor, Perioral
Tremor, Perioral 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0235082
Disease: Tremor, Muscle
Tremor, Muscle 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0235083
Disease: Nerve Tremors
Nerve Tremors 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0235843
Disease: Tremor, Neonatal
Tremor, Neonatal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0751564
Disease: Pill Rolling Tremor
Pill Rolling Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0751565
Disease: Tremor, Semirhythmic
Tremor, Semirhythmic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 9 0.300 None 1.000 1 2009 2009
CUI: C1527384
Disease: Involuntary Quiver
Involuntary Quiver 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 10 0.300 None 1.000 1 2009 2009
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 5 0.100 None 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 1.000 9 3 2014 2018
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2014 2014
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1
CUI: C0205858
Disease: General Paralysis
General Paralysis 		disease Infections; Nervous System Diseases Disease or Syndrome 12 3 0.030 None 1.000 3 1996 2002
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		disease Disease or Syndrome 12 0.020 None 1.000 2 2012 2018
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease Anatomical Abnormality 12 1 0.100 None 0 1
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype Nervous System Diseases Sign or Symptom 13 36 0.010 None 1.000 1 2018 2018
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 1996 1996
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype Finding 14 2 0.100 None 0 1
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0 1
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.100 None 0
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.300 None 1.000 1 2009 2009
CUI: C2220255
Disease: Motor disturbances
Motor disturbances 		phenotype Sign or Symptom 16 1 0.010 None 1.000 1 2003 2003
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype Finding 16 8 0.100 None 0 1