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: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 8.3E-02 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 7 8.2E-02 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 5 8.1E-02 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 5 8.1E-02 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		17 0 5 8.1E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 7 8.0E-02 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 4 8.0E-02 0 0
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 4 8.0E-02 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 4 8.0E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 10 8.0E-02 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 0 4 8.0E-02 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 5 7.9E-02 0 0
CUI: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 4 7.8E-02 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 6 7.8E-02 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 4 7.7E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 7 7.4E-02 0 0
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 0 10 7.4E-02 0 0
CUI: C0546953
Disease: Subacromial bursitis
Subacromial bursitis 		8 0 4 7.4E-02 0 0
CUI: C1168250
Disease: Laryngopharyngeal Reflux
Laryngopharyngeal Reflux 		23 0 5 7.4E-02 0 0
CUI: C0001344
Disease: Acute pharyngitis
Acute pharyngitis 		9 0 4 7.3E-02 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 6 7.2E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 2 6 7.2E-02 1 7.1E-02
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 6 7.0E-02 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 5 6.9E-02 0 0
CUI: C0006444
Disease: Bursitis
Bursitis 		12 0 4 6.9E-02 0 0