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: C0033377
Disease: Ptosis
Ptosis 		607 12 577 0.92 8 0.13
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 315 0.30 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 315 0.30 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 321 0.29 6 4.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 286 0.28 4 2.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 326 0.26 4 6.3E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 215 0.25 7 5.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 231 0.24 9 7.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 223 0.23 2 1.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 283 0.22 5 2.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 300 0.22 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 192 0.22 5 4.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 258 0.22 4 2.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 259 0.22 2 1.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 283 0.21 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 231 0.21 5 3.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 188 0.21 7 6.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 174 0.21 5 6.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 295 0.21 10 2.9E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 151 0.20 4 5.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 406 0.20 15 2.5E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 193 0.20 1 9.3E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 237 0.20 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 303 0.20 1 7.5E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 160 0.19 9 9.3E-02