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: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 3 6.5E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 30 6.5E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 6 6.5E-02 0 0
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		10 0 3 6.4E-02 0 0
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		10 0 3 6.4E-02 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 4 6.3E-02 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 3 6.2E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 3 6.1E-02 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 3 6.1E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 3 6.1E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 3 6.1E-02 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 3 6.1E-02 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		102 0 8 6.0E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 20 6.0E-02 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 4 5.9E-02 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 3 5.9E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 11 5.8E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 4 5.8E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 3 5.8E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 28 5.6E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 6 5.5E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 7 5.3E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 5 5.3E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 29 5.3E-02 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 3 5.3E-02 0 0