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: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 626 68 0.900 0.971 874 16 1993 2018
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 12 0.520 1.000 13 2004 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 168 6 0.430 1.000 4 2004 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.400 1.000 4 2004 2015
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
disease Disease or Syndrome 1 3 0.400 2 3 2016 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.380 limited 1.000 8 2003 2014
Akinetic-Rigid Variant of Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 12 0.300 11 2004 2018
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 13 0.300 11 2004 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.300 1.000 4 2004 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 2 2016 2017
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.300 1.000 2 2013 2014
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Substance-Related Disorders Injury or Poisoning 13 0.300 1 2010 2010
CUI: C0006635
Disease: Cadmium poisoning
Cadmium poisoning
disease Substance-Related Disorders Injury or Poisoning 3 0.300 1 2010 2010
CUI: C0266487
Disease: Etat Marbre
Etat Marbre
disease Nervous System Diseases Disease or Syndrome 23 0.300 1 2011 2011
Other specified transient cerebral ischemias
disease Disease or Syndrome 154 0.200 1 2003 2003
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 190 0.200 1 2003 2003
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.150 0.800 5 1999 2015
CUI: C0008489
Disease: Chorea
Chorea
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 72 7 0.150 0.800 5 2002 2015
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.120 1.000 2 1997 2012
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 1995 1995
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.100 1.000 126 1995 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 435 13 0.100 1.000 10 2000 2016
CUI: C0474702
Disease: Sulfate measurement
Sulfate measurement
phenotype Laboratory Procedure 2 3 0.100 1 1 2016 2016
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 60 4 0.100 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 82 5 0.100 0