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: 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: 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: C0019360
Disease: Herpes zoster disease
Herpes zoster disease 		group Infections Disease or Syndrome 51 10 0.040 None 1.000 4 2014 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: 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2002 2014
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
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: 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: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.500 None 1.000 2 2005 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2017 2019
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: 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: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.020 None 1.000 2 2015 2019
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.300 None 1.000 1 2012 2012
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.200 None 1.000 1 1997 1997
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2018 2018
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2011 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
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: 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: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2015 2015
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 152 0.200 None 1.000 1 1988 1988