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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
disease Disease or Syndrome 2 1 0.700 2 1 2013 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.110 1.000 1 1 2016 2016
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
phenotype Finding 10 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 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: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 206 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0235996
Disease: Elevated liver enzymes
Elevated liver enzymes
phenotype Finding 117 0.100 0
Liver function tests abnormal finding
phenotype Finding 117 0.100 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Congenital Abnormality; Disease or Syndrome 47 41 0.010 1.000 1 2013 2013
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy
disease Disease or Syndrome 3 0.010 1.000 1 2013 2013