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: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.4E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.5E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.6E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.8E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 2 1.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.0E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.1E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.1E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.2E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 2.2E-03 0 0
CUI: C0037369
Disease: Smoking
Smoking 		391 0 1 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.2E-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: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.5E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.5E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 3 2.5E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.6E-03 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 2 2.7E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.8E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.9E-03 0 0