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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 577 0.92 8 0.13
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 310 0.29 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 310 0.29 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 313 0.28 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 281 0.27 2 2.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 321 0.26 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 230 0.24 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 210 0.23 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 222 0.23 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 278 0.22 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 296 0.22 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 257 0.21 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 281 0.21 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 187 0.21 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 255 0.21 2 2.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 229 0.21 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 172 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 290 0.20 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 152 0.20 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 182 0.20 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 192 0.20 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 395 0.19 2 3.6E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 303 0.19 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 232 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 158 0.19 0 0