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: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 5 0.36 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 5 0.33 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 5 0.26 0 0
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		3 0 3 0.21 0 0
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		3 0 3 0.21 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 0 5 0.21 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
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: C0233417
Disease: Poor concentration
Poor concentration 		5 0 3 0.19 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 5 0.19 0 0
CUI: C1112324
Disease: Multifocal micronodular pneumocyte hyperplasia
Multifocal micronodular pneumocyte hyperplasia 		6 0 3 0.18 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 3 0.18 0 0
CUI: C0548923
Disease: Burn infection
Burn infection 		7 0 3 0.17 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		24 0 5 0.15 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 5 0.15 0 0
CUI: C0442880
Disease: Periungual fibroma
Periungual fibroma 		2 0 2 0.14 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.14 0 0
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma 		2 0 2 0.14 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 2 0.14 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 2 0.14 0 0
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		2 0 2 0.14 0 0
CUI: C0028734
Disease: Nocturia
Nocturia 		28 0 5 0.14 0 0
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis 		3 0 2 0.13 0 0
CUI: C0266003
Disease: Subungual fibroma
Subungual fibroma 		3 0 2 0.13 0 0