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: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 33 0.23 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 50 0.22 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 35 0.21 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 29 0.19 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 57 0.18 1 1.2E-02
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 16 0.18 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 21 0.17 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 43 0.17 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 35 0.16 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 31 0.16 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 46 0.15 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 32 0.15 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 13 0.15 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 18 0.15 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 19 0.14 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 15 0.14 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 14 0.14 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 20 0.14 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 13 0.13 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 19 0.13 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 30 0.13 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 11 0.12 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.12 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 11 0.12 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 11 0.12 0 0