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: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		disease Disease or Syndrome 2 13 0.700 None 1.000 14 13 1998 2017
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		disease Disease or Syndrome 10 2 0.060 None 1.000 6 1 2003 2019
CUI: C0729665
Disease: Arteriovenous graft
Arteriovenous graft 		disease Acquired Abnormality 10 2 0.010 None 1.000 1 2018 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		disease Neoplastic Process 40 3 0.010 None 1.000 1 2017 2017
CUI: C3826157
Disease: Hypertension in children
Hypertension in children 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0277960
Disease: Dry hair
Dry hair 		phenotype Finding 12 2 0.100 None 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype Finding 76 7 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0919785
Disease: Decreased transferrin saturation
Decreased transferrin saturation 		phenotype Finding 2 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype Finding 87 1 0.100 None 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		phenotype Finding 20 1 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype Finding 45 1 0.100 None 0
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis 		phenotype Disease or Syndrome 41 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0