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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 358 0.31 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 358 0.31 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 369 0.31 12 7.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 372 0.28 21 3.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 286 0.28 4 2.8E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 281 0.27 2 2.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 521 0.26 40 6.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 364 0.26 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 307 0.24 6 2.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 222 0.24 2 1.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 254 0.24 4 2.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 270 0.23 2 1.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 321 0.23 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 241 0.23 3 2.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 308 0.23 17 7.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 337 0.22 10 2.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 215 0.22 4 2.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 196 0.21 5 4.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 497 0.21 2 8.1E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 341 0.21 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 209 0.21 10 6.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 258 0.20 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 188 0.20 6 4.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 187 0.20 3 2.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 184 0.19 8 5.2E-02