CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
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: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		phenotype Finding 1 3 0.600 limited 0 3
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 112 0.710 None 1.000 26 112 1993 2018
CUI: C4085580
Disease: Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 0.310 None 1.000 3 1993 2007
CUI: C0268130
Disease: Hereditary orotic aciduria, type 1
Hereditary orotic aciduria, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2018 2018
CUI: C1839541
Disease: Episodic ammonia intoxication
Episodic ammonia intoxication 		phenotype Finding 4 0.100 None 0
CUI: C4025095
Disease: Hypoargininemia
Hypoargininemia 		phenotype Finding 4 0.100 None 0
CUI: C0860634
Disease: Psychogenic coma
Psychogenic coma 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 5 0.300 None 1.000 1 1993 1993
CUI: C1839531
Disease: Protein avoidance
Protein avoidance 		phenotype Finding 5 1 0.100 None 0
CUI: C0002064
Disease: Alkalosis, Respiratory
Alkalosis, Respiratory 		phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function 6 0.100 None 0
CUI: C0268540
Disease: HHH syndrome
HHH syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 21 0.030 None 1.000 3 2018 2019
CUI: C0019188
Disease: Hepatitis, Animal
Hepatitis, Animal 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 11 0.200 None 1.000 1 1996 1996
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 0.070 None 1.000 7 2007 2018
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 14 7 0.300 None 1.000 1 2001 2001
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		phenotype Laboratory Procedure 14 32 0.100 None 1.000 1 1 2013 2013
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		phenotype Finding 14 0.100 None 0
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 142 0.020 None 1.000 2 2001 2019
CUI: C0751753
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 0.870 definitive 1.000 18 1986 2019
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 3 2 2010 2014
CUI: C0032768
Disease: Postherpetic neuralgia
Postherpetic neuralgia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 24 1 0.030 None 1.000 3 2014 2019
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		phenotype Molecular Function 26 63 0.100 None 1.000 2 2 2009 2013
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		phenotype Finding 26 63 0.100 None 1.000 2 2 2009 2013
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		phenotype Nervous System Diseases Pathologic Function 26 0.100 None 0
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 1998 1998
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		phenotype Laboratory Procedure 32 68 0.100 None 1.000 3 3 2019 2019
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018