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 0.26 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 14 0.26 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 14 0.25 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 24 0.23 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 19 0.19 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 12 0.19 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 12 0.14 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 13 0.14 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 14 0.14 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 12 0.14 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 13 0.14 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 13 0.14 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 6 10 0.13 1 0.14
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 7 0.13 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 12 0.12 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 8 0.12 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 8 0.12 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 9 0.11 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 9 0.11 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 14 0.11 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 7 0.10 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 12 0.10 0 0
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		13 0 5 9.6E-02 0 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 0 5 9.6E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 8 9.5E-02 0 0