HADH, hydroxyacyl-CoA dehydrogenase, 3033

N. diseases: 72; N. variants: 8
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 2001 2001
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 1999 1999
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 1997 1998
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 1998 1998
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 1997 1997
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1982 1982
CUI: C4477062
Disease: Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase 		phenotype Finding 3 0.100 None 0
CUI: C4554166
Disease: Hepatic Necrosis, CTCAE 5.0
Hepatic Necrosis, CTCAE 5.0 		phenotype Finding 4 0.100 None 0
CUI: C4280763
Disease: Increased C-peptide level
Increased C-peptide level 		phenotype Finding 1 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C4280773
Disease: Increased circulating free fatty acid level
Increased circulating free fatty acid level 		phenotype Finding 2 0.100 None 0
CUI: C1963135
Disease: Hepatic Necrosis, CTCAE 3.0
Hepatic Necrosis, CTCAE 3.0 		phenotype Finding 4 0.100 None 0
CUI: C1864954
Disease: Fasting hyperinsulinemia
Fasting hyperinsulinemia 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 15 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		phenotype Finding 8 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		phenotype Musculoskeletal Diseases Finding 17 1 0.100 None 0