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 25 101 0.26 5 0.14
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 143 0.25 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 133 0.25 1 1.6E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 103 0.23 1 2.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 137 0.22 2 2.6E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 100 0.21 3 7.1E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 118 0.21 1 2.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 119 0.21 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 84 0.20 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 141 0.19 1 1.5E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 111 0.18 4 9.8E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 63 0.18 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 65 0.18 1 4.0E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 77 0.18 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 131 0.18 2 2.2E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 63 0.18 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 97 0.18 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 116 0.17 2 2.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 82 0.17 4 7.8E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 51 0.17 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 74 0.17 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 81 0.17 1 1.9E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 138 0.16 1 9.6E-03
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 64 0.16 2 7.7E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 55 0.16 0 0