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.
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 5 8 0.700 15 8 1999 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.690 limited 0.889 10 2000 2008
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 0.600 1.000 23 1999 2016
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
disease Eye Diseases Disease or Syndrome 1 6 0.600 8 6 1999 2016
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 268 48 0.420 1.000 2 1 2013 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.380 0.875 8 1 2001 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.350 strong 1.000 5 2000 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 98 86 0.340 0.500 5 1 2000 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.310 strong 1.000 1 2000 2000
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
group Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 43 10 0.300 2 2006 2013
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 16 30 0.300 1 1 2016 2016
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 26 0.300 1 1 2016 2016
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 16 27 0.300 1 1 2016 2016
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 26 0.300 1 1 2016 2016
Brain Diseases, Metabolic, Inherited
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.300 1 2013 2013
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.300 1 2013 2013
Central Nervous System Inborn Metabolic Diseases
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.300 1 2013 2013
CUI: C0021400
Disease: Influenza
Influenza
disease Respiratory Tract Diseases; Virus Diseases Disease or Syndrome 588 13 0.300 1 2013 2013
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 20 49 0.300 1 1 2016 2016
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 88 0.300 1 2006 2006
Necrotizing encephalopathy, infantile subacute, of Leigh
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 26 0.300 1 1 2016 2016
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 91 0.300 1 2006 2006
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: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to
disease Eye Diseases Disease or Syndrome 1 0.300 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0