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: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 27 0.18 4 4.2E-02
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 28 0.15 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 13 18 0.14 1 1.7E-02
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 17 0.13 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 18 0.13 0 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		26 0 14 0.12 0 0
CUI: C0344232
Disease: Blurred vision
Blurred vision 		28 0 14 0.12 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 2 23 0.12 1 2.1E-02
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 12 0.12 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 24 0.11 5 3.2E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 37 0.11 1 7.8E-03
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		25 0 12 0.11 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		27 0 12 0.10 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 14 0.10 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 31 0.10 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 11 0.10 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 11 0.10 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 11 0.10 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 11 0.10 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 13 1.0E-01 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 11 1.0E-01 0 0
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		54 8 14 1.0E-01 1 1.9E-02
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 14 9.9E-02 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 14 9.5E-02 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 11 9.5E-02 0 0