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: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 10 0.11 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 9 0.11 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 15 0.11 0 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 0 5 0.10 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		24 0 6 0.10 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 6 1.0E-01 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 0 5 1.0E-01 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 5 1.0E-01 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 7 9.9E-02 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 0 7 9.9E-02 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 0 5 9.8E-02 0 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures 		5 0 4 9.5E-02 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 0 7 9.5E-02 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 5 9.4E-02 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 5 9.4E-02 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		17 0 5 9.4E-02 0 0
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		29 0 6 9.4E-02 0 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		29 0 6 9.4E-02 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 4 9.3E-02 0 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		77 0 10 9.3E-02 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 5 9.3E-02 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 7 9.2E-02 0 0
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 0 4 8.9E-02 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		8 0 4 8.9E-02 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 6 8.8E-02 0 0