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: C0004239
Disease: Atrial Flutter
Atrial Flutter 		13 2 3 7.7E-02 2 0.67
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
Re-entrant atrioventricular tachycardia 		2 2 2 6.9E-02 2 0.67
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		4 2 2 6.5E-02 2 0.67
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 2 2 6.2E-02 2 0.67
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		2 2 2 6.9E-02 2 0.67
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 3 2 5.4E-02 2 0.50
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 3 4.6E-02 2 0.40
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		29 4 2 3.6E-02 2 0.40
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 4 5 8.9E-02 2 0.40
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		12 4 2 5.1E-02 2 0.40
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		123 5 2 1.3E-02 2 0.33
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		24 5 2 3.9E-02 2 0.33
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 5 2 3.3E-02 2 0.33
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		12 1 1 2.5E-02 1 0.33
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 2 4.3E-02 2 0.29
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 8 4 4.7E-02 2 0.22
CUI: C0702166
Disease: Acne
Acne 		167 11 2 1.0E-02 2 0.17
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 4 7 6.0E-02 1 0.17
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 12 4 4.4E-02 2 0.15
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		51 5 6 8.1E-02 1 0.14
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		21 14 2 4.2E-02 2 0.13
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 3 3.6E-02 3 0.12
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 10 4.5E-02 2 0.12
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 6 4.3E-02 2 0.12
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 3 3.9E-02 1 0.11