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 2 29 0.38 1 0.14
Abnormal mitochondria in muscle tissue
39 0 29 0.35 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 29 0.35 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
37 0 28 0.34 0 0
Paroxysmal involuntary eye movements
39 0 28 0.33 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 29 0.33 0 0
Decreased activity of mitochondrial complex I
41 0 28 0.33 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress
44 0 28 0.31 0 0
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
51 0 24 0.24 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 30 0.23 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 42 0.22 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 28 0.20 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
112 0 30 0.19 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 29 0.18 0 0
CUI: C0023380
Disease: Lethargy
Lethargy
160 0 30 0.15 0 0
Focal T2 hyperintense basal ganglia lesion
46 0 15 0.14 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 0 31 0.13 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
190 0 30 0.13 0 0
Decreased activity of mitochondrial respiratory chain
34 0 12 0.13 0 0
Decreased activity of the pyruvate dehydrogenase complex
35 0 12 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 25 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 29 0.11 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia
59 0 13 0.11 0 0
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 11 0.11 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
144 0 20 0.10 0 0