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.
succinic semialdehyde dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nutritional and Metabolic Diseases Disease or Syndrome 3 12 0.790 1.000 17 12 2000 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 0.600 strong 1 2013 2013
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2013 2013
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.300 1 2007 2007
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2007 2007
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 1 2007 2007
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.300 1 2007 2007
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
disease Nervous System Diseases Disease or Syndrome 9 0.300 1 2007 2007
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 119 11 0.300 1 2018 2018
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 9 0.300 1 2007 2007
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 24 6 0.300 1 2007 2007
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2007 2007
Autosomal Recessive Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2007 2007
Central Nervous System Metabolic Disorders
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 1 2007 2007
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 6 0.300 1 2018 2018
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
disease Nervous System Diseases Disease or Syndrome 16 6 0.300 1 2007 2007
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 9 3 0.300 1 2007 2007
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 6 0.300 1 2018 2018
Adult-Onset Idiopathic Focal Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2007 2007
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.300 1 2018 2018
Adult-Onset Idiopathic Torsion Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2007 2007
Autosomal Dominant Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2007 2007
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 6 0.300 1 2018 2018
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2013 2013
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2013 2013