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: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 27 0.15 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 32 0.15 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 29 0.14 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 12 0.14 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 12 0.14 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 22 0.14 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 6 0.12 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 13 0.11 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 9 0.11 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 31 0.11 1 1.2E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 33 0.10 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 5 1.0E-01 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 6 1.0E-01 0 0
CUI: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 4 1.0E-01 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 10 9.2E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 21 9.0E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 28 8.9E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 14 8.7E-02 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 4 8.5E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 4 8.5E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 4 8.5E-02 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 4 8.5E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 9 8.5E-02 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 4 8.2E-02 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 0 4 8.2E-02 0 0