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 0.35 0 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		26 0 13 0.29 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 21 0.28 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 18 0.28 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 12 0.27 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 18 0.27 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 12 0.26 0 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		14 0 9 0.24 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 17 0.20 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 12 0.19 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 13 0.17 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 13 0.15 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 13 0.14 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 13 0.12 0 0
CUI: C0878681
Disease: Dent's disease
Dent's disease 		23 0 6 0.12 0 0
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		15 0 5 0.12 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 12 0.11 0 0
CUI: C4316899
Disease: Cystinosis
Cystinosis 		32 0 6 0.10 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 4 0.10 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 12 9.8E-02 0 0
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		4 0 3 9.1E-02 0 0
CUI: C0238304
Disease: Chronic interstitial nephritis
Chronic interstitial nephritis 		18 0 4 8.7E-02 0 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		239 0 20 8.0E-02 0 0
CUI: C0554309
Disease: Prerenal uremia syndrome
Prerenal uremia syndrome 		9 0 3 7.9E-02 0 0
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		9 0 3 7.9E-02 0 0