Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Focal T2 hyperintense brainstem lesion
33 0 28 0.64 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
37 0 28 0.58 0 0
Paroxysmal involuntary eye movements
39 0 28 0.56 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 30 0.56 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 28 0.55 0 0
Decreased activity of mitochondrial complex I
41 0 28 0.54 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress
44 0 28 0.51 0 0
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
51 0 24 0.36 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
73 0 29 0.35 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 32 0.34 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 33 0.26 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 28 0.26 0 0
Focal T2 hyperintense basal ganglia lesion
46 0 16 0.23 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
112 0 28 0.23 0 0
Decreased activity of mitochondrial respiratory chain
34 0 12 0.20 0 0
Decreased activity of the pyruvate dehydrogenase complex
35 0 12 0.19 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 32 0.19 0 0
CUI: C0023380
Disease: Lethargy
Lethargy
160 0 29 0.17 0 0
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 11 0.16 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 0 31 0.16 0 0
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
36 0 10 0.15 0 0
Leigh Syndrome due to Mitochondrial Complex III Deficiency
36 0 10 0.15 0 0
Leigh Syndrome due to Mitochondrial Complex V Deficiency
36 0 10 0.15 0 0
Necrotizing encephalopathy, infantile subacute, of Leigh
36 0 10 0.15 0 0
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
37 0 10 0.15 0 0