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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 85 4.5E-02 5 9.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 11 3.8E-02 5 2.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 67 0.15 3 2.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 43 4.0E-02 2 3.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 53 2.4E-02 2 3.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 84 7.1E-02 2 6.7E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 45 0.12 2 4.3E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 10 4.7E-02 2 8.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 25 2.0E-02 1 2.5E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 54 7.9E-02 1 1.5E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 20 3.7E-02 1 1.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 85 0.11 1 1.1E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 3 1.4E-02 1 3.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 18 4.6E-02 1 2.3E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 54 0.11 1 1.1E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 17 6 2.7E-02 1 4.0E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 26 8.1E-02 1 2.8E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 34 9.5E-02 1 3.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 68 0.10 1 1.6E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 25 8.7E-02 1 5.9E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 22 3.6E-02 1 5.7E-03
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		69 3 1 4.8E-03 1 9.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 75 8.2E-02 1 7.0E-03
CUI: C0039538
Disease: Teratoma
Teratoma 		171 8 8 2.6E-02 1 6.2E-02
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		31 6 4 2.4E-02 1 7.1E-02