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: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 56 0.32 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 8 40 0.28 6 5.2E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 66 0.27 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 40 0.27 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 12 37 0.26 10 8.6E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 36 0.25 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 36 0.25 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 36 0.25 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 36 0.25 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 68 0.24 1 7.5E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 70 0.20 7 3.7E-02
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 29 0.19 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 41 0.18 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 27 0.18 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 29 0.17 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 27 0.16 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 45 0.16 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 48 0.15 2 1.6E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 31 0.15 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 29 0.15 10 6.4E-02
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 24 0.15 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 31 0.14 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 22 0.14 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 31 22 0.14 7 5.1E-02
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 3 22 0.13 1 8.6E-03