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 26 0.20 3 9.7E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 28 0.19 5 0.20
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 22 0.16 3 0.12
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 25 0.16 4 0.11
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 11 0.15 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 22 0.14 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 16 0.13 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 23 0.12 2 6.9E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 17 0.12 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 27 0.12 2 5.7E-02
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 12 0.11 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 15 0.11 0 0
CUI: C1398312
Disease: Narrow palate
Narrow palate 		40 0 11 0.11 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 10 14 0.11 2 8.0E-02
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 8 0.11 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 10 0.10 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 14 14 0.10 3 0.11
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 10 0.10 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 16 0.10 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 9 9.8E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 2 9 9.8E-02 1 5.6E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 25 9.7E-02 3 7.7E-02
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 266 7 9.7E-02 1 3.5E-03
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 10 9.5E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 12 9.4E-02 0 0