Source: INFERRED ×
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 		1458 505 1 6.9E-04 1 2.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		1292 0 1 7.7E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 1 7.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 0 1 8.9E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 1 9.6E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 1 1.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 0 1 1.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 0 1 1.1E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 0 1 1.3E-03 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		687 0 1 1.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 0 1 1.5E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		622 0 1 1.6E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 0 1 1.7E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 0 1 1.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 0 1 1.7E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 1 1.8E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 0 1 1.8E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		551 0 1 1.8E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 0 1 2.0E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 0 1 2.2E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 1 2.2E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.3E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0