Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Decreased number of large peripheral myelinated nerve fibers
14 0 2 0.14 0 0
Hypointensity of cerebral white matter on MRI
6 0 1 0.14 0 0
Subsarcolemmal accumulations of abnormally shaped mitochondria
6 0 1 0.14 0 0
Decreased sensory nerve conduction velocity
15 0 2 0.13 0 0
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous
7 0 1 0.12 0 0
Abnormal atrioventricular conduction
7 0 1 0.12 0 0
CUI: C0264162
Disease: Camptocormia
Camptocormia
8 0 1 0.11 0 0
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
8 0 1 0.11 0 0
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies
9 0 1 1.0E-01 0 0
CUI: C0949496
Disease: Luft Disease
Luft Disease
9 0 1 1.0E-01 0 0
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability
9 0 1 1.0E-01 0 0
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies
10 0 1 9.1E-02 0 0
CUI: C1708781
Disease: Sarcomatoid carcinoma of the lung
Sarcomatoid carcinoma of the lung
11 0 1 8.3E-02 0 0
Cytochrome C oxidase-negative muscle fibers
24 0 2 8.3E-02 0 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
26 0 2 7.7E-02 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration
13 0 1 7.1E-02 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions
14 0 1 6.7E-02 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness
15 0 1 6.2E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia
33 0 2 6.1E-02 0 0
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation
16 0 1 5.9E-02 0 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone
16 0 1 5.9E-02 0 0
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria
16 0 1 5.9E-02 0 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea
17 0 1 5.6E-02 0 0
Ventricular Arrhythmia by ECG Finding
17 0 1 5.6E-02 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
17 0 1 5.6E-02 0 0