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: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
10 0 1 1.0E-01 0 0
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy
11 0 1 9.1E-02 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia
12 0 1 8.3E-02 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
14 0 1 7.1E-02 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions
14 0 1 7.1E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua
15 0 1 6.7E-02 0 0
CUI: C0234366
Disease: Ataxic
Ataxic
15 0 1 6.7E-02 0 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
15 0 1 6.7E-02 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness
15 0 1 6.7E-02 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction
16 0 1 6.2E-02 0 0
Ventricular Arrhythmia by ECG Finding
17 0 1 5.9E-02 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
17 0 1 5.9E-02 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
17 0 1 5.9E-02 0 0
CUI: C0848771
Disease: neurological disability
neurological disability
18 0 1 5.6E-02 0 0
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
18 0 1 5.6E-02 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction
18 0 1 5.6E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
19 0 1 5.3E-02 0 0
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy
20 0 1 5.0E-02 0 0
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8
21 0 1 4.8E-02 0 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia
21 0 1 4.8E-02 0 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
23 0 1 4.3E-02 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity
24 0 1 4.2E-02 0 0
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy
24 0 1 4.2E-02 0 0
Cytochrome C oxidase-negative muscle fibers
24 0 1 4.2E-02 0 0
Atrophy/Degeneration affecting the brainstem
27 0 1 3.7E-02 0 0