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 0.90 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 77 1019 0.74 6 1.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 514 0.31 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1825 553 659 0.29 66 8.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 431 0.28 12 2.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 362 0.27 7 2.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 159 675 0.26 3 6.7E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 376 0.25 5 1.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 420 0.25 15 1.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 327 0.24 16 4.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 337 0.22 10 2.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 360 0.22 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 266 0.21 6 1.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 295 0.21 10 2.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 353 0.20 16 3.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 254 0.20 11 3.3E-02
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 290 0.20 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 327 0.20 11 2.9E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 270 0.20 7 2.0E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 314 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 314 0.20 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 264 0.20 8 2.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 337 294 0.19 6 9.6E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 0 273 0.19 0 0
CUI: C0036572
Disease: Seizures
Seizures
2152 553 514 0.19 33 4.1E-02