Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 11 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 25 0.11 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 21 0.11 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 9 0.11 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 22 0.11 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 10 0.10 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 23 0.10 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 5 9.8E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 6 9.7E-02 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 4 8.7E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 25 8.5E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 4 8.0E-02 0 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		52 0 6 7.3E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 9 7.2E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 20 7.2E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 15 7.1E-02 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 3 7.1E-02 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 4 7.1E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 3 7.1E-02 0 0
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		10 0 3 7.0E-02 0 0
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		10 0 3 7.0E-02 0 0
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis 		41 0 5 6.9E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 10 6.8E-02 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 4 6.8E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 6 6.7E-02 0 0