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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
disease Disease or Syndrome 1 4 0.700 1 4 2016 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 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 moderate 0
CUI: C0006370
Disease: Bulimia
Bulimia
disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 30 15 0.100 1 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.100 1 1 2018 2018
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 184 9 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis
phenotype Finding 2 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1971624
Disease: Loss of appetite (finding)
Loss of appetite (finding)
phenotype Finding 26 0.100 0
Decreased activity of mitochondrial complex I
phenotype Finding 6 0.100 0
CUI: C4020739
Disease: Respiratory complex I deficiency
Respiratory complex I deficiency
phenotype Finding 7 1 0.100 0
Decreased activity of mitochondrial complex IV
phenotype Finding 3 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 41 0.100 0
CUI: C0687713
Disease: Gastrointestinal pain
Gastrointestinal pain
phenotype Sign or Symptom 139 0.100 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 329 33 0.100 0
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 814 91 0.100 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 883 65 0.100 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 120 2 0.100 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 338 30 0.100 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite
phenotype Sign or Symptom 31 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Finding 80 1 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0