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: C1739147
Disease: Subacute necrotising encephalomyopathy
Subacute necrotising encephalomyopathy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		disease Disease or Syndrome 1 5 0.700 None 1.000 1 5 2013 2013
CUI: C4524077
Disease: Hypertrophic olivary degeneration
Hypertrophic olivary degeneration 		disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		phenotype Finding 7 2 0.100 None 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		phenotype Finding 8 0.100 None 0
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		phenotype Finding 10 0.100 None 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 44 0.300 None 1.000 1 2006 2006
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		phenotype Finding 11 1 0.100 None 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease Anatomical Abnormality 11 8 0.100 None 0
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.100 None 1.000 1 1 2016 2016
CUI: C1832338
Disease: Axonal loss
Axonal loss 		phenotype Finding 16 0.100 None 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		phenotype Finding 18 0.100 None 0
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 20 8 0.010 None 1.000 1 2017 2017
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		phenotype Finding 20 1 0.100 None 0
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.010 None 1.000 1 2015 2015
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2009 2009