Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		disease 0.800 definitive 1.000 17 28 1979 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 None 1.000 0 0 2013 2013
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0022638
Disease: Ketosis
Ketosis 		disease 0.130 None 1.000 0 0 2006 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.110 None 1.000 0 0 2008 2008
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group 0.100 None 1.000 1 4 2019 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		phenotype 0.100 None 1.000 1 26 2019 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		phenotype 0.100 None 1.000 1 2 2019 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		disease 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease 0.100 None 0 0