OTC, ornithine carbamoyltransferase, 5009

N. diseases: 135; N. variants: 142
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: 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 1.000 definitive 1.000 138 139 1976 2018
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.500 None 1.000 46 2 1975 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 1995 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.330 None 0.750 4 1996 2014
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.320 None 1.000 3 1982 2013
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 345 10 0.300 None 1.000 1 1996 1996
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2014 2014
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.300 None 1.000 1 2006 2006
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.300 None 1.000 1 1996 1996
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.200 None 1.000 1 2009 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.200 None 1.000 1 2009 2009
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 6 0.200 None 1.000 1 2009 2009
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 1998 1998
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.200 None 1.000 1 1996 1996
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1998 1998
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 1992 1992
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 1992 1992
CUI: C0036982
Disease: Shock, Hemorrhagic
Shock, Hemorrhagic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.200 None 1.000 1 2007 2007
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.200 None 1.000 1 2005 2005
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.200 None 1.000 1 1999 1999
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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2007 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1986 1986
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 0.100 None 1.000 11 1998 2018
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.100 None 1.000 10 1984 1993