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: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 17 0.20 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 20 0.20 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 20 0.20 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 14 0.18 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 12 0.17 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 17 0.15 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 12 0.14 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 14 0.14 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 15 0.13 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 9 0.12 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 16 0.12 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 15 0.12 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 13 0.11 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 7 0.10 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 8 1.0E-01 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 10 9.7E-02 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 10 9.6E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 9.6E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 13 9.2E-02 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 7 8.9E-02 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 7 8.9E-02 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 7 8.6E-02 0 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		239 0 24 8.5E-02 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 13 8.3E-02 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 7 8.2E-02 0 0