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 95 5.2E-02 10 1.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 48 8.6E-02 7 8.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 20 8.1E-02 7 2.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 16 3.1E-02 6 8.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 50 4.9E-02 6 1.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 17 5.7E-02 6 1.4E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 7 4.7E-02 6 8.3E-02
CUI: C0013404
Disease: Dyspnea
Dyspnea 		222 26 7 2.2E-02 5 0.12
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 16 5.7E-02 5 7.7E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 18 6.9E-02 5 7.2E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 12 4.6E-02 5 3.6E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 30 4.5E-02 4 5.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 12 5.6E-02 4 7.3E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		256 24 4 1.1E-02 4 1.0E-01
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 42 6.4E-02 4 4.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 38 5.8E-02 4 5.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 40 5.1E-02 4 3.8E-02
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 5 4 2.2E-02 4 0.19
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 63 5.4E-02 4 1.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 40 6.4E-02 4 1.9E-02
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		62 11 5 3.1E-02 4 0.15
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 13 11 7.7E-02 4 0.14
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 11 4.9E-02 4 0.11
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 6 4.9E-02 4 9.3E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 4 3.3E-02 4 0.15