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: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 20 0.13 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 10 0.12 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 11 0.12 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 24 0.12 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 22 0.12 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 26 0.11 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 11 0.11 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 9.4E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 5 9.1E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 6 9.1E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 13 8.8E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 26 8.7E-02 1 1.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 24 8.6E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 12 8.6E-02 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 4 8.0E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 10 7.8E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 16 7.5E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 4 7.4E-02 0 0
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		5 0 3 7.1E-02 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 4 7.1E-02 0 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		52 0 6 7.0E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 13 6.9E-02 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 4 6.7E-02 0 0
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis 		41 0 5 6.6E-02 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 3 6.5E-02 0 0