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: C0040425
Disease: Tonsillitis
Tonsillitis 		0 9 0 0 1 9.1E-02
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0 11 0 0 1 7.7E-02
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		0 13 0 0 1 6.7E-02
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0 120 0 0 2 1.7E-02
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0 18 0 0 1 5.0E-02
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0 74 0 0 1 1.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.4E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.8E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.7E-04 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 1 9.7E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.7E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.1E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 1 1.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 1 1.3E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 1 1.3E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 16 1.6E-03 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 1 1.7E-03 0 0