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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 95 0.24 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 85 0.23 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 70 0.21 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
144 114 70 0.20 7 3.7E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 1 57 0.18 1 1.2E-02
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 17 64 0.16 1 1.0E-02
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
190 0 60 0.14 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
457 64 91 0.14 3 2.1E-02
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
80 53 43 0.13 6 4.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
560 0 98 0.13 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
112 0 45 0.13 0 0
Chronic progressive external ophthalmoplegia
50 13 36 0.12 2 2.1E-02
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
51 0 35 0.12 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
53 0 35 0.12 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 7 35 0.11 1 1.1E-02
CUI: C0023380
Disease: Lethargy
Lethargy
160 6 43 0.11 1 1.1E-02
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
100 46 37 0.11 1 7.8E-03
Abnormal mitochondria in muscle tissue
39 2 31 0.11 1 1.2E-02
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 31 0.11 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 51 81 0.11 1 7.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy
634 0 87 0.10 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 31 0.10 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 106 0.10 5 3.4E-02
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
59 0 31 9.9E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
216 12 45 9.9E-02 1 1.1E-02