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: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 68 47 0.740 1.000 7 2 1995 2014
Neuropathy ataxia and retinis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 2 0.690 1.000 13 2 1990 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 0.530 1.000 4 2007 2016
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 0.400 1.000 29 7 1992 2014
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 325 55 0.310 1.000 2 2002 2008
CUI: C0342779
Disease: Complex V deficiency
Complex V deficiency
disease Disease or Syndrome 9 0.310 1.000 1 2017 2017
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 5 3 1993 2007
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 5 3 1993 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 5 3 1993 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 5 3 1993 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 5 3 1993 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 5 3 1993 2007
Striatonigral Degeneration, Infantile, Mitochondrial
disease Nervous System Diseases Disease or Syndrome 1 3 0.300 3 3 1995 2008
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
disease Disease or Syndrome 8 4 0.300 2 2 2005 2008
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS
phenotype Finding 1 2 0.300 2 2 2005 2008
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
disease Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1 0.300 2 1 2005 2008
MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)
disease Disease or Syndrome 1 1 0.300 2 1 2005 2008
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
disease Disease or Syndrome 1 1 0.300 2 1 2005 2008
CUI: C0020564
Disease: Hypertrophy
Hypertrophy
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 18 0.300 1 2008 2008
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.300 1 2008 2008
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
disease Disease or Syndrome 2 1 0.300 1 1 2015 2015
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
disease Nervous System Diseases Disease or Syndrome 5 1 0.300 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.150 0.800 5 1 1994 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.140 1.000 4 1993 2012
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 94 8 0.110 1.000 1 2008 2008