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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 66 0.20 2 5.1E-02
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 8 42 0.19 1 3.1E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 98 0.19 2 3.8E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 48 0.17 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 87 0.17 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 107 0.16 4 4.1E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 48 0.15 3 1.0E-01
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 49 0.15 2 5.7E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 58 0.15 1 2.1E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 39 0.15 2 5.4E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 34 0.14 2 5.9E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 38 0.14 1 2.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 73 0.14 2 3.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 95 0.14 4 5.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 109 0.14 2 1.8E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 44 0.14 2 4.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 79 0.13 5 6.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 70 0.13 3 4.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 45 0.13 1 2.0E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 40 0.13 3 3.9E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 32 0.13 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 32 0.13 4 0.12
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 64 0.13 3 4.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 113 0.12 5 3.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 51 0.12 5 8.5E-02