OAT, ornithine aminotransferase, 4942

N. diseases: 69; N. variants: 10
Source: BEFREE ×
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 1.000 definitive 0.962 44 6 1981 2019
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 7 0.670 None 1.000 7 4 1981 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 214 14 0.330 None 1.000 3 1988 1992
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1510 88 0.310 None 1.000 1 2017 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 194 16 0.160 None 1.000 6 1988 1997
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 13 3 0.110 None 1.000 1 2018 2018
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 152 6 0.040 None 1.000 4 1988 1992
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 141 11 0.030 None 1.000 3 1988 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 844 39 0.030 None 1.000 3 1986 1993
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4000 995 0.020 None 1.000 2 2 2018 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4073 1000 0.020 None 1.000 2 2 2018 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327 0.020 None 1.000 2 2018 2019
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 67 5 0.020 None 1.000 2 2008 2018
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.020 None 1.000 2 1993 1994
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 293 4 0.020 None 1.000 2 1993 1994
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 127 10 0.020 None 1.000 2 1988 1992
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.020 None 1.000 2 1993 1994
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 2 2018 2019
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 53 3 0.020 None 1.000 2 1989 1990
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.020 None 1.000 2 2017 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 759 233 0.020 None 1.000 2 2019 2019
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 110 42 0.010 None 1.000 1 2005 2005
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1394 73 0.010 None 1.000 1 2019 2019
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 1 0.010 None 1.000 1 1989 1989
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