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: C0024421
Disease: Macroglossia
Macroglossia 		115 0 61 0.25 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 60 0.21 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 65 0.18 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 50 0.17 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 47 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 76 0.14 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 33 0.14 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 48 0.13 2 3.8E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 34 0.13 5 0.12
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 69 0.12 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 29 0.11 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 32 0.11 1 2.2E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 62 0.11 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 48 0.11 1 1.6E-02
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 29 0.11 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 37 0.11 2 3.6E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 48 0.11 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 61 0.11 4 3.9E-02
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 30 0.11 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 14 34 0.11 5 0.12
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 49 0.11 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 43 0.10 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 33 0.10 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 26 0.10 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 56 0.10 2 3.0E-02