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: C0005890
Disease: Body Height
Body Height 		1903 0 2 1.0E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.8E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.1E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.2E-03 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 1 2.3E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.4E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.4E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 2 2.5E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 2.6E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.7E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.7E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.7E-03 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 1 2.7E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 2.8E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.8E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.9E-03 0 0
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		272 0 1 3.0E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 3.0E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 3.0E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.0E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.1E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 2 3.1E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 2 3.1E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 3.1E-03 0 0