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: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 12 0.46 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 12 0.31 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 12 0.27 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 7 21 0.27 1 0.14
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 14 0.26 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 6 0.25 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 6 0.21 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 5 0.21 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 12 0.19 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 12 0.18 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 14 0.18 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 16 0.17 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 13 0.17 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 12 0.17 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 9 0.16 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 12 0.16 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 10 0.16 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 17 0.16 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 4 0.15 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 11 0.15 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 5 0.15 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 0 5 0.15 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		24 0 6 0.14 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 5 0.14 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 5 0.14 0 0