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 0.58 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.58 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 11 0.58 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 11 0.58 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 11 0.52 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 11 0.50 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 11 0.39 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 11 0.39 0 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		33 0 12 0.31 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 7 0.30 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 11 0.29 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 11 0.28 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 6 0.27 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 6 0.26 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 13 0.25 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 5 0.25 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 0.24 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 0.23 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 7 0.23 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 7 0.23 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 7 0.23 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 7 0.23 0 0
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		4 0 4 0.22 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 11 0.22 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 7 0.22 0 0