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: C0033377
Disease: Ptosis
Ptosis 		558 0 558 0.97 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 313 0.30 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 313 0.30 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 316 0.30 6 4.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 278 0.28 2 1.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 323 0.27 4 6.4E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 215 0.25 7 6.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 231 0.25 9 7.7E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		609 0 234 0.25 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 279 0.24 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 220 0.24 2 2.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 224 0.24 5 5.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 253 0.23 4 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 378 0.23 13 2.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 282 0.23 5 2.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 192 0.23 5 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 334 0.22 7 1.5E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 233 0.22 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 287 0.22 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 280 0.22 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 187 0.21 7 6.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 190 0.21 1 1.2E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		622 44 207 0.21 1 1.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 170 0.21 5 6.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 292 0.21 10 3.0E-02