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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 38 7.7E-02 1 2.4E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 15 7.7E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 28 7.7E-02 0 0
CUI: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		8 0 8 7.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 42 7.6E-02 1 1.5E-02
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 17 7.6E-02 0 0
CUI: C4022386
Disease: Overfriendliness
Overfriendliness 		9 0 8 7.5E-02 0 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		9 0 8 7.5E-02 0 0
CUI: C4025898
Disease: Functional abnormality of male internal genitalia
Functional abnormality of male internal genitalia 		9 0 8 7.5E-02 0 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		10 0 8 7.5E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 23 7.4E-02 0 0
CUI: C0332606
Disease: Elfin facies
Elfin facies 		11 0 8 7.4E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 10 7.4E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 15 7.4E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 11 7.4E-02 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 13 7.3E-02 0 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		12 0 8 7.3E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 35 7.3E-02 2 5.6E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 28 7.3E-02 0 0
CUI: C0151908
Disease: Dry skin
Dry skin 		159 0 18 7.3E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 12 7.3E-02 0 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 0 10 7.3E-02 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 23 7.3E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 19 7.3E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 27 7.2E-02 0 0