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: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 11 0.34 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.34 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 11 0.34 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 11 0.34 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 11 0.32 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 11 0.31 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 11 0.29 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 11 0.27 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 11 0.27 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 12 0.23 0 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		33 0 11 0.21 0 0
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		6 0 6 0.19 0 0
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		6 0 6 0.19 0 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		7 0 6 0.19 0 0
CUI: C1963933
Disease: Punding
Punding 		7 0 6 0.19 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 11 0.17 0 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem 		10 0 6 0.17 0 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		10 0 6 0.17 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 6 0.17 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 11 0.17 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 6 0.16 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 8 0.16 0 0
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		52 0 11 0.15 0 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		15 0 6 0.15 0 0
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		15 0 6 0.15 0 0