AASS, aminoadipate-semialdehyde synthase, 10157

N. diseases: 34; N. variants: 7
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: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 0.720 moderate 1.000 6 1968 2016
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.600 moderate 1.000 2 2000 2013
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.500 None 1.000 3 2000 2013
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.500 None 1.000 2 2000 2013
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.400 None 1.000 2 7 2000 2016
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 0.400 strong 1.000 1 2016 2016
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 412 0.300 None 1.000 1 2015 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.300 None 1.000 1 2015 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 418 0.300 None 1.000 1 2015 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 1 2015 2015
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 412 0.300 None 1.000 1 2015 2015
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.300 None 1.000 1 2015 2015
CUI: C1527317
Disease: Alpha-Aminoadipic Semialdehyde Deficiency Disease
Alpha-Aminoadipic Semialdehyde Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0268555
Disease: Hyperlysinemia, Periodic
Hyperlysinemia, Periodic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria 		phenotype Finding 4 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.100 None 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 37 6 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 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