ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
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: C0220982
Disease: Ketoacidosis
Ketoacidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 1 26 0.100 None 1.000 1 26 2019 2019
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: C0085595
Disease: Body odor
Body odor 		phenotype Finding 2 0.100 None 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		phenotype Finding 2 2 0.100 None 0
CUI: C4554061
Disease: Body Odor, CTCAE
Body Odor, CTCAE 		phenotype Finding 2 0.100 None 0
CUI: C1859860
Disease: Episodic ketoacidosis
Episodic ketoacidosis 		phenotype Finding 4 0.100 None 0
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 30 0.800 definitive 1.000 35 30 1979 2019
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.100 None 0
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 7 4 0.100 None 0
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.100 None 1.000 1 4 2019 2019
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 16 15 0.020 None 1.000 2 2011 2015
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 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 18 56 0.010 None 1.000 1 2011 2011
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.020 None 1.000 2 2000 2018
CUI: C4324621
Disease: Opioid use disorder
Opioid use disorder 		disease Mental or Behavioral Dysfunction 23 0.010 None 1.000 1 2018 2018
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.100 None 1.000 1 2 2019 2019
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
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: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
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 49 15 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: C0153567
Disease: Uterine Cancer
Uterine Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 54 4 0.010 None 1.000 1 2015 2015
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None < 0.001 1 2018 2018
CUI: C0023364
Disease: Leptospirosis
Leptospirosis 		disease Infections Disease or Syndrome 70 2 0.100 None 1.000 12 2005 2020