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: C0349588
Disease: Short stature
Short stature 		1127 0 1010 0.90 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1010 0.80 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 495 0.31 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 418 0.29 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 355 0.29 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 620 0.28 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 368 0.27 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 637 0.25 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 394 0.25 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 314 0.24 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 346 0.23 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 321 0.23 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 255 0.22 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 283 0.21 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 246 0.21 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 281 0.21 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 261 0.21 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 302 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 302 0.20 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 311 0.20 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 251 0.20 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 270 0.20 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 217 0.20 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 325 0.20 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 280 0.19 0 0