CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
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: C1850722
Disease: Transient hyperlipidemia
Transient hyperlipidemia 		phenotype Nutritional and Metabolic Diseases Finding 1 0.100 None 0
CUI: C4749136
Disease: CPT1A ARCTIC VARIANT
CPT1A ARCTIC VARIANT 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1850719
Disease: Recurrent encephalopathy
Recurrent encephalopathy 		phenotype Nervous System Diseases Finding 2 1 0.100 None 0
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 55 0.900 definitive 1.000 17 55 1981 2016
CUI: C0268634
Disease: Disorder of fatty acid metabolism
Disorder of fatty acid metabolism 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.200 None 1.000 1 2006 2006
CUI: C3658248
Disease: Hypertriglyceridemic Waist
Hypertriglyceridemic Waist 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 0.010 None < 0.001 1 2016 2016
CUI: C0041657
Disease: Unconscious State
Unconscious State 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 13 1 0.100 None 0
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 118 0.030 None 1.000 3 2018 2019
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 114 0.010 None 1.000 1 2019 2019
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 15 0.100 None 0
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 23 34 0.010 None 1.000 1 2017 2017
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		disease Anatomical Abnormality 23 2 0.100 None 0
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 1 2 2012 2012
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 2019 2019
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2018 2018
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.100 None 0
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.010 None 1.000 1 2019 2019
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2017 2017
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections 		group Disease or Syndrome 78 1 0.010 None 1.000 1 2016 2016
CUI: C0009421
Disease: Comatose
Comatose 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 9 0.010 None 1.000 1 2016 2016
CUI: C0178417
Disease: Anhedonia
Anhedonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 7 0.010 None 1.000 1 2017 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 96 17 0.010 None 1.000 1 2018 2018