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: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 6 0.21 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 14 0.21 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 4 7 0.20 1 0.17
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 6 0.20 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 14 0.20 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 5 0.19 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 6 0.18 0 0
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		5 0 4 0.18 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 15 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
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 6 0.17 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 6 0.17 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 6 0.17 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 6 0.17 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		86 0 15 0.16 0 0
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		15 0 5 0.16 0 0
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 7 16 0.16 1 0.11
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		8 0 4 0.16 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 14 0.15 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 28 13 0.15 1 3.3E-02
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		87 0 14 0.15 0 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		26 0 6 0.15 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 0 9 0.14 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		27 0 6 0.14 0 0