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.
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
disease Disease or Syndrome 1 14 0.700 None 1.000 8 14 2007 2016
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.600 None 1.000 3 3 2015 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.400 None 1.000 2 2007 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2011 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.400 None 1.000 1 2009 2009
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 moderate 1.000 1 2007 2007
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.400 None 1.000 1 2009 2009
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
disease Disease or Syndrome 4 2 0.310 None 1.000 1 2009 2009
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.310 None 1.000 1 1 2011 2011
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 2 2007 2009
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 2 2007 2009
CUI: C0949496
Disease: Luft Disease
Luft Disease
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 2 2007 2009
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 13 0.300 None 1.000 2 2009 2011
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2012 2012
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 1 0.300 None 1.000 1 2009 2009
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2009 2009
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.300 None 1.000 1 2009 2009
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.300 None 1.000 1 2009 2009
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.300 moderate 1.000 1 2007 2007
Visceral myopathy familial external ophthalmoplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.150 None 1.000 6 2 2007 2019
Chronic progressive external ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.130 None 1.000 3 2009 2016