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: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 7 6.1E-02 0 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		26 0 6 6.1E-02 0 0
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		9 0 5 6.1E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 6 6.1E-02 2 7.1E-02
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 6 6.1E-02 0 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		47 16 7 5.9E-02 3 8.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 17 5.8E-02 5 5.6E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 18 5.8E-02 0 0
CUI: C1388233
Disease: Aneurysm of descending thoracic aorta
Aneurysm of descending thoracic aorta 		15 0 5 5.7E-02 0 0
CUI: C4022878
Disease: Descending aortic dissection
Descending aortic dissection 		15 0 5 5.7E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 13 5.6E-02 7 5.1E-02
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal 		16 0 5 5.6E-02 0 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		16 0 5 5.6E-02 0 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation 		16 0 5 5.6E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 10 5.6E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 15 5.5E-02 6 1.4E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 6 5.5E-02 4 0.11
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 5 5 5.4E-02 2 7.7E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 7 5.4E-02 3 7.5E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 7 9 5.4E-02 1 3.4E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 11 5.4E-02 6 0.14
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 13 5.4E-02 3 7.0E-02
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 0 5 5.4E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 9 5.2E-02 1 3.1E-02
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		24 0 5 5.2E-02 0 0