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 0 1 6.9E-04 0 0
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 		954 579 1 1.0E-03 1 1.7E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 1 1.3E-03 1 8.3E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 1 1.4E-03 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		718 6664 1 1.4E-03 1 1.5E-04
CUI: C0038379
Disease: Strabismus
Strabismus 		682 0 1 1.5E-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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		536 0 1 1.9E-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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 0 1 2.3E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 0 1 2.4E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		407 0 1 2.5E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.6E-03 0 0