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: C1848553
Disease: Homocystinuria, CblD Type, Variant 1
Homocystinuria, CblD Type, Variant 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.600 None 0 3
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 limited 0
CUI: C1848554
Disease: Methylmalonic Aciduria, CblD Type, Variant 2
Methylmalonic Aciduria, CblD Type, Variant 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.400 limited 0 3
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		phenotype Finding 5 0.100 None 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 28 3 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
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 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype Finding 12 1 0.100 None 0
CUI: C0003123
Disease: Anorexia
Anorexia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0018926
Disease: Hematemesis
Hematemesis 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 14 1 0.100 None 0 1
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0