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: C2931728
Disease: Distal Trisomy 10q Syndrome
Distal Trisomy 10q Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.010 None 1.000 1 1993 1993
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: C4022482
Disease: Chorioretinal hyperpigmentation
Chorioretinal hyperpigmentation 		phenotype Finding 1 0.100 None 0
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: C0023381
Disease: Letterer-Siwe Disease
Letterer-Siwe Disease 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1991 1991
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		disease Congenital Abnormality 5 0.010 None 1.000 1 2005 2005
CUI: C0221715
Disease: Intestinal carcinoma
Intestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 1999 1999
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		disease Eye Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
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: 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 0.010 None 1.000 1 1989 1989
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: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0 1
CUI: C1136135
Disease: Water Stress
Water Stress 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.100 None 0
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: 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: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.110 None 1.000 1 2018 2018
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: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 30 3 0.100 None 0
CUI: C3887875
Disease: Visual field defects
Visual field defects 		group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0 1
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid 		disease Eye Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2019 2019
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 53 0.010 None 1.000 1 2011 2011
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.020 None 1.000 2 1989 1990
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C0004277
Disease: Tooth Attrition
Tooth Attrition 		disease Stomatognathic Diseases Acquired Abnormality 66 5 0.010 None 1.000 1 2020 2020