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 0.030 None 1.000 3 2013 2016
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.310 None 1.000 2 2012 2016
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy
disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2016 2016
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 17 25 0.300 None 1.000 1 2015 2015
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies
group Nervous System Diseases Disease or Syndrome 7 1 0.310 None 1.000 1 2015 2015
CUI: C4721916
Disease: HMSN Type V
HMSN Type V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2012 2012
Hereditary Autosomal Dominant Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 1.000 1 2012 2012
Autosomal Recessive Hereditary Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.300 None 1.000 1 2012 2012
Hereditary X-Linked Recessive Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2012 2012
X-Linked, Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2012 2012
CUI: C0751716
Disease: Adult Neuroaxonal Dystrophy
Adult Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C0751717
Disease: Juvenile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
Late Infantile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2016 2016
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2015 2015
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2015 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2020 2020
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 42 0.010 None 1.000 1 2015 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.010 None 1.000 1 2016 2016
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.010 None 1.000 1 2016 2016
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.310 None 1.000 1 2012 2012
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 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: C0813217
Disease: Expressionless face
Expressionless face
phenotype Nervous System Diseases Finding 31 1 0.100 None 0