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: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 87 3 0.100 None 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0239882
Disease: Head tremor
Head tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.100 None 0
CUI: C4551520
Disease: Intention tremor
Intention tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		disease Anatomical Abnormality 39 2 0.100 None 0