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: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 0.56 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 30 0.56 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 28 0.52 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 29 0.52 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 0.50 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 28 0.48 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 28 0.46 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 25 0.35 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 29 0.33 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 32 0.32 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 34 0.26 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 28 0.24 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 28 0.22 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 16 0.21 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 2 35 0.20 1 0.50
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 12 0.18 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 38 0.18 1 4.8E-02
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 30 0.17 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 11 0.16 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 11 0.16 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 28 0.16 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 11 0.15 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 30 0.15 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 30 0.15 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 24 0.15 0 0