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.
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 13 0.710 1.000 10 13 2007 2017
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.400 limited 1 2007 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.310 strong 1.000 3 2007 2013
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype Musculoskeletal Diseases Pathologic Function 64 7 0.300 strong 1 2016 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 182 4 0.120 1.000 2 2 2016 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.110 1.000 1 2018 2018
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Sign or Symptom 86 1 0.100 0
CUI: C1527311
Disease: Brain Edema
Brain Edema
disease Nervous System Diseases Disease or Syndrome 62 0.100 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency
phenotype Finding 9 0.100 0
CUI: C0947912
Disease: Myasthenias
Myasthenias
disease Disease or Syndrome 22 2 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
Increased lactate dehydrogenase activity
phenotype Finding 1 0.100 0
Elevated plasma acylcarnitine levels
phenotype Finding 4 0.100 0
Elevated creatine kinase after exercise
phenotype Finding 4 0.100 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Pathologic Function 41 5 0.100 0
CUI: C4020739
Disease: Respiratory complex I deficiency
Respiratory complex I deficiency
phenotype Finding 7 1 0.100 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
phenotype Finding 10 0.100 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.100 0