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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 89 0.31 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 53 0.24 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 2 50 0.16 1 3.6E-02
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 32 0.16 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 54 0.16 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 45 0.16 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 30 0.15 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 30 0.15 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 31 0.15 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 30 0.15 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 30 0.15 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 29 0.14 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 29 0.14 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 60 0.14 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 0.14 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 31 0.14 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 30 0.14 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 28 0.14 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 28 0.14 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 75 0.13 1 8.1E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 30 0.13 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 37 0.13 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 32 0.13 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 34 0.13 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 39 0.13 0 0