Source: INFERRED ×
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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 1005 0.97 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 1009 0.88 2 6.6E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 496 0.35 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 572 0.33 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 603 0.32 3 5.8E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 422 0.30 2 1.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 0 369 0.29 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 363 0.29 2 3.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 403 0.25 1 1.7E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 321 0.25 0 0
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 447 0.24 2 4.7E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 282 0.24 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 0 329 0.24 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 331 0.23 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 0 261 0.22 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 255 0.22 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 0 287 0.22 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 283 0.22 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 260 0.21 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 0 264 0.21 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 262 0.21 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 228 0.21 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 0 313 0.20 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 308 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 308 0.20 0 0