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: C0036572
Disease: Seizures
Seizures 		2152 553 46 2.1E-02 3 5.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 71 3.9E-02 3 5.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 51 6.0E-02 2 2.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 50 6.8E-02 2 2.2E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 13 2.2E-02 2 2.2E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 5 1.3E-02 2 7.7E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 11 2.0E-02 2 2.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 8 2.9E-02 2 4.8E-03
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 17 8.0E-02 2 6.9E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 15 3.1E-02 2 5.6E-02
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		90 10 1 6.2E-03 1 6.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 20 1.7E-02 1 2.5E-03
CUI: C0010200
Disease: Coughing
Coughing 		235 16 1 3.3E-03 1 4.8E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 2 3.6E-03 1 1.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 7 8.8E-03 1 1.2E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 19 4.3E-02 1 1.8E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 31 6.3E-02 1 9.8E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 10 5.4E-02 1 2.3E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 5 1.5E-02 1 2.4E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 4 1.4E-02 1 3.0E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 4 1.2E-02 1 4.3E-02
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		114 7 2 1.1E-02 1 8.3E-02
CUI: C0020488
Disease: Hypernatremia
Hypernatremia 		59 3 1 7.6E-03 1 0.12
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		69 4 1 7.1E-03 1 0.11
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 8 1.2E-02 1 3.5E-03