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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.6E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.0E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.2E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.5E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.6E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.6E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.6E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.7E-03 0 0
CUI: C0005699
Disease: Blast Phase
Blast Phase 		299 0 1 2.7E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.8E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.8E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 2.8E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 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: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 3.0E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.0E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 3.0E-03 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 1 3.1E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.2E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 2 3.2E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 3.3E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		234 0 1 3.3E-03 0 0