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 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
disease Disease or Syndrome 1 4 0.900 7 4 1993 2015
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.300 1 2011 2011
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype Musculoskeletal Diseases Pathologic Function 64 7 0.300 strong 1 2016 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 29 16 0.140 1.000 4 2007 2016
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 2 0.140 1.000 4 2007 2016
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.120 1.000 2 2007 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.120 1.000 2 2013 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 182 4 0.110 1.000 1 2007 2007
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Finding 28 0.100 0
Decreased activities of mitochondrial-encoded respiratory chain complexes
phenotype Finding 6 0.100 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
phenotype Finding 51 3 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Sign or Symptom 194 0.100 0
Loss of ability to walk in early childhood
phenotype Finding 2 0.100 0
Creatine phosphokinase serum increased
phenotype Finding 158 16 0.100 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
group Disease or Syndrome 51 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Disease or Syndrome 258 3 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Finding 59 1 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0