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: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 38 0.26 5 0.20
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 41 0.24 3 9.1E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 28 0.19 5 0.20
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 1 21 0.14 1 7.7E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 30 0.14 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 25 0.13 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 29 0.13 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 22 0.13 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 34 0.13 5 0.12
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 32 0.13 4 0.12
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 35 0.12 1 2.7E-02
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 19 0.12 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 20 0.12 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 20 0.12 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 19 0.11 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 3 14 0.11 2 0.14
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 14 0.11 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		41 10 14 0.11 2 9.5E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 19 0.10 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 33 0.10 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 22 0.10 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 23 0.10 2 9.5E-02
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 13 0.10 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 16 0.10 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 48 1.0E-01 1 2.0E-02