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 53 161 0.23 1 1.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 93 0.22 1 2.1E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 120 0.21 2 2.6E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 100 0.21 3 7.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 134 0.21 6 6.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 148 0.20 5 5.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 112 0.19 5 7.9E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 96 0.19 2 2.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 110 0.18 2 3.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 121 0.18 4 4.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 109 0.18 2 3.6E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 56 0.18 2 5.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 102 0.17 1 1.6E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 67 0.17 3 7.9E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 80 0.17 1 2.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 145 0.17 1 9.3E-03
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 56 0.17 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 185 0.17 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 67 0.16 1 2.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 196 0.16 13 4.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 156 0.16 10 6.5E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 64 0.16 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 76 0.16 3 4.8E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 64 0.16 5 0.11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 77 0.16 4 6.2E-02