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: C0750968
Disease: Central Nervous System Metabolic Disorders
Central Nervous System Metabolic Disorders 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C0751743
Disease: Metabolic Disorder, Central Nervous System, Acquired
Metabolic Disorder, Central Nervous System, Acquired 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C0751744
Disease: Brain Diseases, Metabolic, Acquired
Brain Diseases, Metabolic, Acquired 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C1135773
Disease: Acquired Metabolic Diseases, Nervous System
Acquired Metabolic Diseases, Nervous System 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2007 2007
CUI: C0423063
Disease: Comitant heterophoria
Comitant heterophoria 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 7 17 0.800 strong 1.000 24 17 2000 2019
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia 		disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2007 2007
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.300 None 1.000 1 2018 2018
CUI: C1301721
Disease: Neurological morbidity
Neurological morbidity 		disease Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2007 2007
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 1.000 1 2007 2007
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2007 2007
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.300 None 1.000 1 2018 2018
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 1 0.300 None 1.000 1 2018 2018
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 13 8 0.300 None 1.000 1 2007 2007