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.
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 2 0.610 1.000 5 2 1985 2018
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 28 0.600 22 28 1993 2017
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 1 0.310 1.000 1 2016 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.310 strong 1.000 1 2018 2018
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 strong 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.300 strong 1 1993 1993
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 1 2015 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 125 21 0.300 strong 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 20 2 2002 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.100 1.000 13 2012 2018
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.100 1.000 13 2012 2018
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 0.050 1.000 5 1 2012 2018
CUI: C0019825
Disease: Hoarseness
Hoarseness
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 51 1 0.050 1.000 5 1 2012 2018
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group Nervous System Diseases Disease or Syndrome 85 6 0.030 0.667 3 2013 2014
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 24 6 0.020 0.500 2 1 2013 2014
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia
disease Disease or Syndrome 12 2 0.020 0.500 2 2 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.020 1.000 2 2015 2016
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal
disease Musculoskeletal Diseases; Neoplasms Disease or Syndrome 22 1 0.020 1.000 2 2015 2016
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 168 17 0.010 1.000 1 1 2014 2014
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 328 77 0.010 < 0.001 1 2014 2014
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia
disease Disease or Syndrome 11 5 0.010 1.000 1 2 2014 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.010 1.000 1 2013 2013
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.010 1.000 1 2014 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 435 13 0.010 1.000 1 2016 2016