NAGS, N-acetylglutamate synthase, 162417

N. diseases: 58; N. variants: 18
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: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.500 None 1.000 13 2002 2019
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 18 0.760 definitive 1.000 13 18 1971 2018
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 4 0.010 None 1.000 1 2003 2003
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 2018 2018
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2010 2010
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.010 None 1.000 1 2019 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.010 None 1.000 1 2019 2019
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 47 0.010 None 1.000 1 2018 2018
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 23 3 0.010 None 1.000 1 2019 2019
CUI: C0009421
Disease: Comatose
Comatose 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 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: C0030486
Disease: Paraplegia
Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 59 0.100 None 0
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.100 None 0
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.100 None 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2016 2016
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0041657
Disease: Unconscious State
Unconscious State 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 13 1 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia 		phenotype Finding 5 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0