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: C4722142
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding)
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding) 		1 0 1 1.00 0 0
CUI: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 1 0.20 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 1 7.1E-02 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 1 6.2E-02 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 1 4.2E-02 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 1 3.7E-02 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 3.2E-02 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 1 3.1E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 2.6E-02 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 1 2.4E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 2.3E-02 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 1 2.0E-02 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 1 2.0E-02 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 1 1.9E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 1.7E-02 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 1 1.6E-02 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 1 1.5E-02 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 1 1.5E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.3E-02 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 1 1.3E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.2E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0