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: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		54 8 48 0.41 1 0.11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 30 0.25 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 30 0.24 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 0.24 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 28 0.23 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 29 0.23 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 0.23 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 28 0.23 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 28 0.22 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 35 0.21 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 28 0.21 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 35 0.20 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 30 0.19 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 36 0.18 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 31 0.14 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 19 0.14 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 36 0.14 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 38 0.13 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 18 0.13 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 45 0.13 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 34 0.13 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 30 0.12 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 46 23 0.12 1 2.1E-02
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 29 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 28 0.11 0 0