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: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 13 29 0.28 9 0.16
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 30 0.28 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 19 40 0.25 2 2.9E-02
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 24 0.23 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 19 0.22 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 19 0.18 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 46 27 0.18 4 4.2E-02
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		41 0 18 0.17 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 15 0.17 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 17 0.17 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 20 0.17 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		48 0 18 0.16 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 14 0.16 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 33 0.15 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 29 0.15 10 6.4E-02
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		29 0 14 0.15 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 14 0.15 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 16 0.15 0 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		31 0 14 0.14 0 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		49 0 16 0.14 0 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		33 0 14 0.14 0 0
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		35 0 14 0.14 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 20 0.14 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 11 0.14 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 43 0.13 6 4.6E-02