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: 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: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.6E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.6E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.9E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.0E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 2.3E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.3E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.3E-03 0 0
CUI: C0037369
Disease: Smoking
Smoking 		391 0 1 2.3E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.3E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 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: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.5E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.6E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.6E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 2.8E-03 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 1 2.8E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.8E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.8E-03 0 0