OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
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: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2018 2018
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		disease Congenital Abnormality 5 0.010 None 1.000 1 2005 2005
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 1999 1999
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C4017305
Disease: GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA 		disease Finding 1 2 0.100 None 0 2
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4022482
Disease: Chorioretinal hyperpigmentation
Chorioretinal hyperpigmentation 		phenotype Finding 1 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0 1
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2019 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 1985 1985
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 35 1.000 definitive 0.962 52 35 1981 2019
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 65 0.670 None 1.000 13 62 1981 2017
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 1988 1988
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 1985 1985
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 73 0.010 None 1.000 1 2010 2010
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.010 None 1.000 1 2002 2002
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 2005 2005
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 1989 1989
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 103 7 0.300 None 1.000 1 2008 2008
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.310 None 1.000 2 2017 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2017 2019