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 0.50 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.50 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 11 0.50 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 11 0.50 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 11 0.46 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 11 0.44 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 11 0.39 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 11 0.35 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 11 0.27 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 10 0.26 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 11 0.26 0 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		33 0 11 0.26 0 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		9 0 6 0.25 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 6 0.23 0 0
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes 		6 0 5 0.23 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 6 0.22 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 11 0.21 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 8 0.20 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 11 0.20 0 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		95 0 19 0.20 0 0
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		4 0 4 0.19 0 0
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		52 0 11 0.18 0 0
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary, Type VII, Motor and Sensory Neuropathy 		6 0 4 0.17 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 6 0.17 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 6 0.17 0 0