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: C0025990
Disease: Micrognathism
Micrognathism 		586 53 118 0.18 2 3.2E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 48 0.18 1 3.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 95 0.16 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 99 0.15 1 1.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 85 0.14 2 2.5E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 44 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 69 0.13 1 1.7E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 47 0.13 2 5.4E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 48 0.13 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 32 0.12 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 39 0.12 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 45 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 62 0.11 1 2.5E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 36 0.11 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 33 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 36 0.11 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 37 0.11 1 4.5E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 36 0.11 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 59 0.11 2 5.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 45 0.11 1 3.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 87 0.10 1 1.1E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 45 0.10 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 25 0.10 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 44 0.10 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 47 0.10 1 3.1E-02