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 2 109 0.41 1 4.5E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 65 0.28 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 68 0.26 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 95 0.24 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 68 0.24 1 7.5E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 61 0.18 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 1 38 0.18 1 4.8E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 98 0.17 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 54 0.17 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 34 0.16 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 54 0.16 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 33 0.15 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 32 0.15 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 98 0.15 1 1.5E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 66 0.14 2 5.9E-02
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 31 0.14 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 78 0.14 2 3.3E-02
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 32 0.14 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 30 0.14 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 32 0.14 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 30 0.13 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 38 0.13 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 29 0.13 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 0.13 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 49 0.13 0 0