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: C2919758
Disease: Deficiency of succinate-CoA ligase
Deficiency of succinate-CoA ligase 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C3501372
Disease: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.200 None 1.000 1 2014 2014
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		disease Disease or Syndrome 2 5 0.700 None 1.000 7 5 2005 2016
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.220 None 1.000 3 2010 2016
CUI: C3811915
Disease: SUCLA2
SUCLA2 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2016 2016
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C4302061
Disease: Ischemic vascular dementia
Ischemic vascular dementia 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
CUI: C1835993
Disease: Loss of ability to walk in early childhood
Loss of ability to walk in early childhood 		phenotype Finding 4 1 0.100 None 0
CUI: C0030200
Disease: Pain, Intractable
Pain, Intractable 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.010 None 1.000 1 2018 2018
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss 		disease Otorhinolaryngologic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2009 2009
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		phenotype Nervous System Diseases Finding 14 5 0.100 None 0
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2012 2012
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype Anatomical Abnormality 17 3 0.100 None 0
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2012 2012
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.150 None 1.000 5 2007 2017
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		phenotype Mental or Behavioral Dysfunction 33 33 0.010 None 1.000 1 1 2018 2018
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		phenotype Finding 34 0.100 None 0
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 13 2005 2017
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 13 2005 2017
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 13 2005 2017
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 13 2005 2017
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.050 None 1.000 5 2007 2017
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 13 2005 2017
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 18 0.010 None 1.000 1 2017 2017
CUI: C0004158
Disease: Athetosis
Athetosis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0