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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 503 0.35 9 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 677 0.32 88 8.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 372 0.28 21 3.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 326 0.26 4 6.3E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 321 0.26 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 633 0.25 54 5.0E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 634 0.25 7 9.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 420 0.25 15 1.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 394 0.25 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 404 0.25 1 1.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 352 0.24 20 3.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 338 0.24 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 338 0.24 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 269 0.24 255 0.27
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 10 346 0.24 1 1.7E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 423 0.23 2 3.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 338 0.23 15 2.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 337 0.22 5 7.8E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 277 0.22 7 1.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 267 0.21 5 8.0E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 216 0.20 3 5.0E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 256 0.20 5 8.0E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 278 0.20 5 7.6E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 230 0.19 16 2.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 226 0.18 7 1.1E-02