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: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.500 strong 1.000 2 2007 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.310 strong 1.000 2 2007 2016
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		disease Disease or Syndrome 51 4 0.020 None 1.000 2 2011 2012
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease Disease or Syndrome 9 3 0.010 None 1.000 1 2011 2011
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype Finding 87 1 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: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype Finding 33 2 0.100 None 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		disease Anatomical Abnormality 39 2 0.100 None 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype Finding 41 3 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype Finding 45 1 0.100 None 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		phenotype Finding 39 2 0.100 None 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 37 0.100 None 0