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.
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 1.000 definitive 0.968 31 4 2001 2019
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.910 None 1.000 12 7 1998 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 12 2003 2018
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 12 2003 2018
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.300 definitive 1.000 12 2003 2018
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 37 12 0.300 definitive 1.000 12 2003 2018
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 12 2003 2018
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.300 definitive 1.000 12 2003 2018
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		disease Disease or Syndrome 51 4 0.060 None 1.000 6 2003 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.330 strong 1.000 4 2016 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.130 None 1.000 3 2010 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.120 None 1.000 2 2017 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2017 2020
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2009 2019
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.020 None 1.000 2 2009 2017
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.020 None 1.000 2 2017 2017
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.020 None 1.000 2 2015 2019
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2001 2001
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2001 2001
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.110 None < 0.001 1 2019 2019
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.110 None 1.000 1 2019 2019
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2012 2012
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.010 None 1.000 1 2017 2017
CUI: C0035920
Disease: Rubella
Rubella 		disease Infections Disease or Syndrome 82 11 0.010 None 1.000 1 2020 2020