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: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		2 3 1 1.5E-02 3 0.27
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 3 1 1.4E-02 3 0.27
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 4 2 2.3E-02 3 0.25
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		5 4 2 2.9E-02 3 0.25
CUI: C4023918
Disease: Short hard palate
Short hard palate 		7 4 5 7.2E-02 3 0.25
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		4 5 1 1.4E-02 3 0.23
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 5 4 4.0E-02 3 0.23
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 6 3 3.3E-02 3 0.21
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 6 1 1.2E-02 3 0.21
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		21 7 1 1.1E-02 3 0.20
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 7 2 1.3E-02 3 0.20
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 23 0.25 4 0.19
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 9 2 2.5E-02 3 0.18
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 18 6.8E-02 4 0.17
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 13 8.2E-02 3 0.17
CUI: C4021959
Disease: Round ear
Round ear 		10 4 2 2.7E-02 2 0.15
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		10 13 1 1.3E-02 3 0.14
CUI: C0024003
Disease: Lordosis
Lordosis 		160 15 7 3.2E-02 3 0.13
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 2 1.8E-02 3 0.13
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		93 16 2 1.3E-02 3 0.12
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 2 1.1E-02 3 0.12
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 8 10 7.9E-02 2 0.12
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 8 8 5.8E-02 2 0.12
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 12 8.3E-02 2 1.0E-01
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		120 11 9 5.1E-02 2 1.0E-01