Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Cytochrome C oxidase-negative muscle fibers
24 1 21 0.27 1 0.14
Increased intramyocellular lipid droplets
27 0 19 0.23 0 0
Respiratory insufficiency due to muscle weakness
85 0 27 0.20 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 19 0.19 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 37 0.18 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
59 0 20 0.17 0 0
Increased hepatocellular lipid droplets
14 0 12 0.15 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia
41 0 15 0.15 0 0
Chronic progressive external ophthalmoplegia
50 0 16 0.15 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
51 0 16 0.14 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
21 0 12 0.14 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
112 0 23 0.14 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome
32 0 13 0.14 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
74 0 18 0.14 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
42 0 14 0.13 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
102 0 21 0.13 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 19 0.13 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
94 0 19 0.13 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
59 0 15 0.12 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content
14 0 10 0.12 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
42 0 13 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 31 0.12 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 21 0.12 0 0
Creatine phosphokinase serum increased
228 0 32 0.12 0 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle
29 0 11 0.12 0 0