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: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 42 3.3E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 42 3.7E-02 1 3.4E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 42 4.1E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 41 4.2E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 40 7.8E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 39 6.4E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 39 2.1E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 38 5.1E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 37 6.0E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 37 3.6E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 37 4.3E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 37 5.9E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 37 4.6E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 37 4.6E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 36 4.5E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 36 1.7E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 34 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 34 0.10 1 4.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 33 5.4E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 33 4.5E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 33 1.5E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 31 3.6E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 30 6.7E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 30 3.6E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 30 6.6E-02 0 0