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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1010 0.80 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 1019 0.74 6 1.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 531 0.30 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 683 0.28 6 9.6E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 460 0.28 2 9.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 717 0.26 2 8.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 376 0.26 2 1.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 401 0.25 1 6.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 423 0.23 2 3.1E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 10 383 0.22 3 3.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 332 0.22 2 1.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 341 0.21 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 386 0.20 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 303 0.20 1 7.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 556 0.19 2 3.2E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 303 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 262 0.19 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 266 0.19 1 9.4E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 294 0.19 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 312 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 325 0.18 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 316 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 316 0.18 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 271 0.18 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 341 0.18 2 8.4E-03