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 53 307 0.35 8 6.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 262 0.32 23 0.19
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 244 0.32 7 7.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 245 0.29 7 5.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 219 0.27 10 9.4E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 210 0.27 20 0.19
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 262 0.25 9 6.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 286 0.25 3 1.4E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 202 0.25 7 7.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 179 0.24 4 4.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 314 0.24 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 231 0.24 9 7.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 254 0.24 4 2.5E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 233 0.24 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 230 0.24 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 327 0.24 16 4.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 332 0.22 2 1.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 277 0.22 7 1.1E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 148 0.20 5 5.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 403 0.20 24 4.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 270 0.20 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 138 0.19 8 8.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 159 0.19 6 5.7E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 152 0.19 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 243 0.19 8 3.4E-02