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 0.90 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 1009 0.88 2 6.6E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 494 0.33 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 576 0.32 3 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 622 0.32 65 8.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 422 0.29 11 2.7E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 365 0.27 5 1.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 358 0.27 7 2.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 419 0.25 15 1.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 466 0.24 33 4.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 327 0.24 16 4.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 334 0.23 10 2.7E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 278 0.22 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 332 0.22 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 265 0.21 6 1.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 292 0.21 10 3.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 353 0.21 16 3.6E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 285 0.20 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 254 0.20 11 3.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 323 0.20 11 3.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 269 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: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 255 0.19 0 0