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: 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: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.500 None 0.957 23 2 1993 2019
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: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 7 3 2016 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 5 3 2010 2019
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.040 None 1.000 4 2014 2018
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		phenotype Laboratory Procedure 55 143 0.100 None 1.000 4 3 2009 2017
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.100 None 1.000 4 2 2010 2019
CUI: C0019360
Disease: Herpes zoster disease
Herpes zoster disease 		group Infections Disease or Syndrome 51 10 0.040 None 1.000 4 2014 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 3 1 2013 2019
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: 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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.110 None 1.000 3 1 2010 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 3 1 2016 2019
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 3 2 2015 2019
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		disease Digestive System Diseases Disease or Syndrome 210 26 0.030 None 1.000 3 2 2007 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2002 2014
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 3 2 2010 2014
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		phenotype Laboratory Procedure 32 68 0.100 None 1.000 3 3 2019 2019
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: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.200 None 1.000 2 1996 2002
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.310 None 1.000 2 2015 2015
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.020 None 1.000 2 1998 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.020 None 1.000 2 2015 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.020 None 1.000 2 2017 2019