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: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 33 0.26 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 68 0.26 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 34 0.26 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 40 0.25 2 2.9E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 39 0.23 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 29 0.22 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 53 0.22 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 0.22 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 29 0.22 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 29 0.22 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 32 0.22 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 29 0.21 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 0.21 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 70 0.21 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 27 0.19 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 41 0.18 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 36 0.18 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 29 0.18 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 24 0.16 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 30 0.16 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 23 0.15 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 22 0.15 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 40 0.15 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 36 0.15 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 21 0.15 0 0