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: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 32 0.26 4 0.25
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 6 6 4.8E-02 4 0.22
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		2 3 1 8.6E-03 3 0.19
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 3 1 8.3E-03 3 0.19
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 4 2 1.5E-02 3 0.18
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		5 4 3 2.6E-02 3 0.18
CUI: C4023918
Disease: Short hard palate
Short hard palate 		7 4 2 1.7E-02 3 0.18
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		4 5 2 1.7E-02 3 0.17
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 5 13 9.6E-02 3 0.17
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 5 2 1.3E-02 3 0.17
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 6 1 7.1E-03 3 0.16
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		21 7 1 7.4E-03 3 0.15
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 7 7 3.4E-02 3 0.15
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 8 17 0.11 3 0.14
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 9 2 1.6E-02 3 0.14
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		13 2 4 3.2E-02 2 0.12
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
Re-entrant atrioventricular tachycardia 		2 2 2 1.7E-02 2 0.12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 2 1.1E-02 3 0.12
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		4 2 3 2.6E-02 2 0.12
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 2 5 4.3E-02 2 0.12
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		2 2 2 1.7E-02 2 0.12
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 12 7 4.0E-02 3 0.12
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 3 15 0.11 2 0.12
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 3 6 4.3E-02 2 0.12
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 3 3 2.5E-02 2 0.12