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 0.28 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 0 7 0.27 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 5 0.26 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 5 0.22 0 0
CUI: C0018810
Disease: heart rate
heart rate 		36 103 9 0.20 30 0.29
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 5 0.19 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 5 0.17 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 5 0.17 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		17 0 5 0.17 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 7 0.16 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 3 0.14 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 7 0.14 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		24 0 5 0.14 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 5 0.14 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 8 0.13 0 0
CUI: C0028734
Disease: Nocturia
Nocturia 		28 0 5 0.12 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face 		31 0 5 0.11 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 6 0.11 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.11 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 2 0.11 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 2 0.11 0 0
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		2 0 2 0.11 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		3 0 2 0.11 0 0
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		3 0 2 0.11 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		3 0 2 0.11 0 0