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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.060 None 1.000 6 1 2011 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.010 None 1.000 1 2018 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.110 None 1.000 1 2019 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies
group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2018 2018
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2018 2018
CUI: C0024031
Disease: Low Back Pain
Low Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.010 None < 0.001 1 2018 2018
CUI: C0275524
Disease: Coinfection
Coinfection
phenotype Infections Disease or Syndrome 252 11 0.010 None 1.000 1 2009 2009
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 14 4 0.100 None 0
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.100 None 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 5 0.100 None 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 6 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 3 0.100 None 0
Granular osmiophilic deposits (GROD) in cells
phenotype Finding 2 0.100 None 0
Increased neuronal autofluorescent lipopigment
phenotype Finding 8 0.100 None 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.180 None 0.909 11 1 2001 2017
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.100 None 1.000 10 2011 2019
Ceroid Lipofuscinosis, Neuronal, Parry Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.700 None 1.000 5 2 2011 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.030 None 0.667 3 2014 2018
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
disease Neoplasms Neoplastic Process 100 1 0.020 None 1.000 2 2013 2020