ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 98; N. variants: 4
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: C0342869
Disease: Deficiency of acetyl-CoA acyltransferase (disorder)
Deficiency of acetyl-CoA acyltransferase (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.020 None 1.000 2 1995 2019
CUI: C1304249
Disease: Cutaneous xanthoma
Cutaneous xanthoma 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 4 0.800 definitive 1.000 17 4 1979 2019
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 9 0.020 None 1.000 2 2000 2018
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 3 0.020 None 1.000 2 2011 2015
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 3 0.020 None 1.000 2 2011 2015
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2011 2011
CUI: C4324621
Disease: Opioid use disorder
Opioid use disorder 		disease Mental or Behavioral Dysfunction 23 0.010 None 1.000 1 2018 2018
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		disease Mental Disorders Disease or Syndrome 39 23 0.010 None 1.000 1 2018 2018
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 45 3 0.010 None 1.000 1 2015 2015
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 12 0.010 None 1.000 1 2017 2017
CUI: C0343804
Disease: Chronic Chagas' disease
Chronic Chagas' disease 		disease Infections Disease or Syndrome 52 4 0.010 None 1.000 1 2019 2019
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 66 0.010 None 1.000 1 2009 2009
CUI: C0023364
Disease: Leptospirosis
Leptospirosis 		disease Infections Disease or Syndrome 67 2 0.100 None 1.000 12 2005 2020
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None < 0.001 1 2018 2018
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 89 10 0.130 None 1.000 3 2006 2019
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 94 10 0.010 None 1.000 1 2019 2019
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 103 3 0.020 None 1.000 2 2004 2010
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2019 2019
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 117 19 0.010 None 1.000 1 2005 2005
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 118 9 0.010 None 1.000 1 2018 2018
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		disease Endocrine System Diseases Disease or Syndrome 120 9 0.010 None 1.000 1 2018 2018
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 144 14 0.010 None 1.000 1 2015 2015
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 145 14 0.010 None 1.000 1 2015 2015
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.010 None 1.000 1 2000 2000