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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 735 0.34 3 5.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 495 0.31 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 514 0.31 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 531 0.30 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 705 0.28 3 1.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 424 0.27 1 5.3E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 364 0.26 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 404 0.25 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 623 0.24 2 3.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 312 0.23 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 346 0.22 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 300 0.22 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 296 0.22 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 321 0.21 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 321 0.21 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 328 0.21 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 257 0.21 1 1.0E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 282 0.21 1 1.4E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 356 0.20 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 260 0.20 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 320 0.20 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 246 0.20 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 252 0.20 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 270 0.20 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 292 0.20 0 0