Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
5 0 5 0.33 0 0
Multiple mitochondrial DNA deletions
6 0 5 0.31 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction
18 0 7 0.27 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
10 0 5 0.25 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions
14 0 5 0.21 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent
33 0 8 0.20 0 0
Ventricular Arrhythmia by ECG Finding
17 0 5 0.19 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
17 0 5 0.19 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
17 0 5 0.19 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
51 7 10 0.18 1 0.14
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
39 0 8 0.17 0 0
Subsarcolemmal accumulations of abnormally shaped mitochondria
6 0 3 0.17 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity
24 0 5 0.15 0 0
Cytochrome C oxidase-negative muscle fibers
24 0 5 0.15 0 0
Atrophy/Degeneration involving the spinal cord
2 0 2 0.13 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
2 0 2 0.13 0 0
CUI: C2931521
Disease: Sclerosing lymphocytic lobulitis
Sclerosing lymphocytic lobulitis
2 0 2 0.13 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum
2 0 2 0.13 0 0
CUI: C3843755
Disease: Gastric or duodenal ulcer
Gastric or duodenal ulcer
2 0 2 0.13 0 0
Multidrug resistant pulmonary tuberculosis
2 0 2 0.13 0 0
Abnormal morphology of the cerebellar cortex
2 0 2 0.13 0 0
CUI: C0028734
Disease: Nocturia
Nocturia
28 0 5 0.13 0 0
CUI: C0206067
Disease: Focal Epithelial Hyperplasia
Focal Epithelial Hyperplasia
3 0 2 0.12 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy
3 0 2 0.12 0 0
CUI: C0277275
Disease: Infection by Haemonchus
Infection by Haemonchus
3 0 2 0.12 0 0