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: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 23 0.15 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 18 0.15 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 27 0.14 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 15 0.13 2 3.2E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 29 0.12 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 10 0.12 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 11 0.12 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 35 0.12 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 10 0.11 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 20 0.11 2 1.6E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 9 0.11 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 9 0.11 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 9 0.11 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 9 0.11 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 10 0.11 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 9 0.11 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 7 0.11 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 9 0.11 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 0 10 0.11 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 10 0.11 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 3 9 0.11 1 7.7E-02
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 8 0.10 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 10 9.8E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 8 9.4E-02 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 0 13 9.3E-02 0 0