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: 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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 1991 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2469 234 0.020 None 1.000 2 1991 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 1991 2018
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: 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.080 None 1.000 8 1998 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.080 None 1.000 8 1998 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 1998 2019
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1995 266 0.080 None 1.000 8 2000 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1998 271 0.080 None 1.000 8 2000 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: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 424 83 0.020 None 1.000 2 2000 2004
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: 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: C0023364
Disease: Leptospirosis
Leptospirosis 		disease Infections Disease or Syndrome 67 2 0.100 None 1.000 12 2005 2020
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: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 89 10 0.130 None 1.000 3 2006 2019
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion 		disease Cardiovascular Diseases Disease or Syndrome 253 0.020 None 1.000 2 2009 2019
CUI: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 163 6 0.010 None 1.000 1 2009 2009