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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1992 1992
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 372 27 0.030 None 1.000 3 1994 1997
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		group Neoplasms Neoplastic Process 381 18 0.010 None 1.000 1 1998 1998
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 162 5 0.010 None 1.000 1 1998 1998
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes 		disease Eye Diseases Disease or Syndrome 154 1 0.010 None 1.000 1 2000 2000
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
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 255 36 0.010 None 1.000 1 2000 2000
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 424 83 0.020 None 1.000 2 2000 2004
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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1016 189 0.010 None 1.000 1 2009 2009
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: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 163 6 0.010 None 1.000 1 2009 2009
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: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 584 47 0.010 None 1.000 1 2010 2010
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 740 41 0.010 None 1.000 1 2010 2010
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 0.010 None 1.000 1 2010 2010
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: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 469 110 0.010 None 1.000 1 2012 2012
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 163 59 0.010 None 1.000 1 2012 2012
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1279 139 0.010 None 1.000 1 2012 2012
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1340 139 0.010 None 1.000 1 2012 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 685 93 0.010 None 1.000 1 2013 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1075 63 0.010 None 1.000 1 2014 2014
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1736 316 0.010 None 1.000 1 2014 2014
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