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.
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
disease Disease or Syndrome 1 2 0.400 1 2 2013 2013
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 1 2013 2013
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 10 0.300 0
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
disease Disease or Syndrome 12 1 0.300 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 182 4 0.100 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
phenotype Pathologic Function 147 0.100 0
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C1859860
Disease: Episodic ketoacidosis
Episodic ketoacidosis
phenotype Finding 4 0.100 0
CUI: C0235996
Disease: Elevated liver enzymes
Elevated liver enzymes
phenotype Finding 117 0.100 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.100 0
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis
phenotype Pathologic Function 13 0.100 0
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 119 6 0.100 0
Liver function tests abnormal finding
phenotype Finding 117 0.100 0
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 206 0.100 0
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 1102 74 0.030 1.000 3 2009 2017
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplastic Process 1041 61 0.030 1.000 3 2009 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.010 1.000 1 2011 2011
CUI: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.010 1.000 1 2017 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.010 1.000 1 2017 2017