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: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 50 0.19 4 0.13
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 26 0.15 2 0.12
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 48 0.14 2 8.3E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 28 0.12 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 23 0.12 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 63 0.12 1 1.4E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 29 0.12 1 5.6E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 33 0.11 1 4.0E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 25 0.11 2 9.1E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 0 37 0.11 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 21 0.11 4 0.11
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 23 0.11 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 8 18 0.11 2 0.12
CUI: C0576226
Disease: Short foot
Short foot 		116 0 21 0.10 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 13 20 0.10 1 4.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 21 0.10 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 30 1.0E-01 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 25 9.8E-02 1 3.1E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 47 9.7E-02 3 8.3E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 19 9.6E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 18 9.3E-02 1 3.4E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 15 9.3E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 32 9.3E-02 2 1.8E-02
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 14 9.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 33 9.3E-02 3 6.5E-02