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: C0344232
Disease: Blurred vision
Blurred vision 		28 0 26 0.93 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 11 0.41 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 12 0.35 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 9 0.32 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 11 0.31 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 11 0.31 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 11 0.31 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 11 0.31 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		27 0 11 0.26 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 7 0.21 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 11 0.19 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 7 0.19 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 6 0.19 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 6 0.19 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 6 0.19 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 6 0.19 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 8 0.18 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 6 0.18 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 9 0.15 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 6 0.15 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 6 0.15 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 6 0.15 0 0
CUI: C0234378
Disease: Static Tremor
Static Tremor 		62 0 11 0.14 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 6 0.14 0 0
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		52 0 9 0.13 0 0