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 10
disease Disease or Syndrome 1 6 0.900 3 6 2012 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.310 strong 1.000 1 2014 2014
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
disease Disease or Syndrome 2 2 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
disease Disease or Syndrome 2 11 0.200 1 2015 2015
Combined Oxidative Phosphorylation Deficiency 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 1 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
disease Disease or Syndrome 2 4 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
disease Disease or Syndrome 2 3 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
disease Disease or Syndrome 2 13 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
disease Disease or Syndrome 2 5 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
disease Disease or Syndrome 2 2 0.200 1 2015 2015
Combined Oxidative Phosphorylation Deficiency 3
disease Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 5 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
disease Disease or Syndrome 2 1 0.200 1 2015 2015
Combined Oxidative Phosphorylation Deficiency 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
disease Disease or Syndrome 2 4 0.200 1 2015 2015
Combined Oxidative Phosphorylation Deficiency 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.200 1 2015 2015
Combined Oxidative Phosphorylation Deficiency 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 2 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
disease Disease or Syndrome 2 1 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
disease Disease or Syndrome 2 2 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
disease Disease or Syndrome 2 2 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
disease Disease or Syndrome 2 9 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
disease Disease or Syndrome 2 1 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
disease Disease or Syndrome 2 5 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
disease Disease or Syndrome 2 1 0.200 1 2015 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
disease Disease or Syndrome 2 3 0.200 1 2015 2015