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: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 38 0.26 5 0.20
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 26 0.20 3 9.7E-02
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 14 0.17 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 21 0.17 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 28 0.14 1 3.3E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 23 0.14 1 2.1E-02
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 18 0.14 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 14 0.13 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 12 0.13 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 3 14 0.13 2 0.11
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 22 0.13 1 2.6E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 19 0.12 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 18 0.12 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 17 0.12 0 0
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		10 0 10 0.12 0 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		10 0 10 0.12 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 21 0.12 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 3 10 0.12 2 0.11
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 16 0.12 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 4 10 0.12 2 0.11
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 24 0.12 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 16 0.11 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 17 0.11 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 17 0.11 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 29 0.11 6 0.17