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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 114 0.23 4 5.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 118 0.19 2 2.5E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 96 0.19 2 2.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 209 0.19 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 13 67 0.18 2 3.7E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 98 0.18 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 138 0.18 2 1.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 136 0.18 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 216 0.17 15 4.7E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 81 0.17 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 81 0.17 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 232 0.17 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 61 0.17 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 105 0.16 1 1.4E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 62 0.16 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 106 0.16 5 7.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 114 0.16 1 9.4E-03
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 63 0.16 1 1.6E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 101 0.16 4 5.4E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 67 0.16 1 1.9E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 74 0.16 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 95 0.15 2 2.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 79 0.15 1 1.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 137 0.15 2 1.7E-02
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 53 0.15 0 0