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: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 31 37 0.500 2 3 2004 2010
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 0.370 1.000 7 5 2004 2016
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 13 1 0.310 1.000 1 2010 2010
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Nutritional and Metabolic Diseases Disease or Syndrome 32 88 0.300 2 3 2004 2010
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 2007 2007
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 2007 2007
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 2007 2007
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 2007 2007
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 2007 2007
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 2 2007 2007
CUI: C4304725
Disease: Leber plus disease
Leber plus disease
disease Disease or Syndrome 3 0.300 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.220 1.000 3 2003 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 626 68 0.200 1 2010 2010
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 267 83 0.200 1 1995 1995
Abnormal mitochondria in muscle tissue
phenotype Anatomical Abnormality 29 0.100 0
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disease Disease or Syndrome 44 2 0.020 1.000 2 2004 2017
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplastic Process 158 37 0.010 1.000 1 2010 2010
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.010 1 2007 2007
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy
disease Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 17 5 0.010 1.000 1 2004 2004
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 75 11 0.010 1.000 1 2016 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.010 1.000 1 2014 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.010 1.000 1 1996 1996