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: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 23 9.1E-02 1 1.6E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 22 9.1E-02 2 6.1E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 24 9.0E-02 1 3.4E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 17 8.9E-02 1 2.9E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 23 8.8E-02 1 5.9E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 15 8.7E-02 1 3.6E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 23 8.7E-02 2 6.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 42 8.6E-02 1 2.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 54 8.4E-02 2 2.4E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 17 8.4E-02 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 19 8.3E-02 1 2.6E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 21 8.3E-02 1 6.2E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 18 8.3E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 24 8.3E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 40 8.3E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 38 8.3E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 46 8.3E-02 1 1.3E-02
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 13 8.2E-02 3 0.17
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 37 8.2E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 18 8.1E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 22 8.1E-02 0 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 15 8.1E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 22 8.1E-02 2 1.0E-01
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 38 8.0E-02 1 2.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 25 8.0E-02 2 2.5E-02