ACADVL, acyl-CoA dehydrogenase very long chain, 37

N. diseases: 87; N. variants: 121
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: 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 1.000 definitive 0.989 89 118 1985 2020
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.300 strong 1.000 1 1999 1999
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 2 0.300 strong 1.000 1 2015 2015
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype Laboratory Procedure 13 0.300 strong 1.000 1 1999 1999
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.300 None 1.000 1 2008 2008
CUI: C0242184
Disease: Hypoxia
Hypoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2008 2008
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.300 None 1.000 1 2008 2008
CUI: C0003129
Disease: Anoxemia
Anoxemia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2008 2008
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 2 2012 2012
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 2 2012 2012
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 2 2012 2012
CUI: C0282507
Disease: Heat Stress Disorders
Heat Stress Disorders 		phenotype Wounds and Injuries Injury or Poisoning 3 0.200 None 1.000 1 2007 2007
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.200 None 1.000 1 2012 2012
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		disease Cardiovascular Diseases Disease or Syndrome 98 10 0.110 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.110 None 1.000 1 2014 2014
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.110 None 1.000 1 2014 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2 2014 2014
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.110 None 1.000 1 2018 2018
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 4 0.100 None 1.000 6 3 1996 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 3 2012 2012
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0