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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 1 1.3E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.4E-03 0 0
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		610 0 1 1.5E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.5E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.6E-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: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.0E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.1E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.1E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.1E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		399 0 1 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.3E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.3E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.4E-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: C0302142
Disease: Deformity
Deformity 		350 0 1 2.5E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 3 2.6E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.6E-03 0 0