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 0.710 None 1.000 6 2004 2016
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
disease Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2004 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.300 strong 1.000 1 2016 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.200 None 1.000 1 2006 2006
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: 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: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 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: 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: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 98 4 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
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
Focal T2 hyperintense brainstem lesion
phenotype Finding 33 2 0.100 None 0
Abnormal mitochondria in muscle tissue
disease Anatomical Abnormality 39 2 0.100 None 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
phenotype Finding 12 8 0.100 None 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
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: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
phenotype Finding 45 1 0.100 None 0
Paroxysmal involuntary eye movements
phenotype Finding 39 2 0.100 None 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.100 None 0