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: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
12 0 11 0.21 0 0
Abnormality of Krebs cycle metabolism
12 0 11 0.21 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts
12 0 11 0.21 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria
12 0 11 0.21 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline
14 0 11 0.20 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 11 0.20 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
18 0 11 0.19 0 0
Segmental peripheral demyelination/remyelination
21 0 11 0.18 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress
21 0 11 0.18 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia
33 0 12 0.16 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation
31 0 11 0.15 0 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs
33 0 11 0.15 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
43 0 12 0.14 0 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
26 0 9 0.13 0 0
CUI: C0344232
Disease: Blurred vision
Blurred vision
28 0 9 0.13 0 0
Focal T2 hyperintense basal ganglia lesion
46 0 11 0.13 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
59 0 12 0.12 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode
27 0 8 0.11 0 0
CUI: C0018794
Disease: Heart Block
Heart Block
58 0 11 0.11 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
61 0 11 0.11 0 0
Central retinal vessel vascular tortuosity
11 0 6 0.11 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal
12 0 6 0.10 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 16 0.10 0 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia
41 0 8 9.4E-02 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome
20 0 6 9.1E-02 0 0