CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78
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: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 54 0.710 None 1.000 46 54 1992 2016
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 36 0.700 None 1.000 25 36 1992 2015
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 24 0.700 None 1.000 15 24 1998 2016
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 29 0.500 definitive 1.000 62 29 1989 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.440 None 1.000 5 1 1999 2018
CUI: C3280160
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 		phenotype Finding 1 6 0.400 None 0 6
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 2 0.320 strong 1.000 3 2 1996 2020
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.320 strong 1.000 3 2006 2019
CUI: C0751744
Disease: Brain Diseases, Metabolic, Acquired
Brain Diseases, Metabolic, Acquired 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C1135773
Disease: Acquired Metabolic Diseases, Nervous System
Acquired Metabolic Diseases, Nervous System 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C0750968
Disease: Central Nervous System Metabolic Disorders
Central Nervous System Metabolic Disorders 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic 		group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C4706387
Disease: Acute necrotizing encephalopathy of childhood
Acute necrotizing encephalopathy of childhood 		disease Disease or Syndrome 3 0.300 None 1.000 1 2011 2011
CUI: C0751743
Disease: Metabolic Disorder, Central Nervous System, Acquired
Metabolic Disorder, Central Nervous System, Acquired 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.160 None 1.000 6 2000 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.150 None 1.000 5 4 2005 2011
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.120 None 1.000 3 1 2005 2017
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.120 None 1.000 2 1 2005 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.120 None 1.000 2 3 1992 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2 2019 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.110 None 1.000 1 2018 2018
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		phenotype Musculoskeletal Diseases Finding 17 1 0.110 None 1.000 1 2005 2005
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C0150055
Disease: Chronic pain
Chronic pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 19 0.100 None 0 1