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: C1281440
Disease: Familial obesity
Familial obesity 		0 3 0 0 1 3.3E-02
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		0 3 0 0 1 3.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.1E-03 0 0
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: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.4E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.7E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.9E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 1.9E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.0E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.0E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.1E-03 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 1 2.1E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.1E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.2E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.2E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.4E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 2 2.5E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.5E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.5E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 2.6E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.6E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 2.7E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.7E-03 0 0