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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 15 3.2E-02 1 1.6E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 33 1.5E-02 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 35 1.9E-02 2 3.6E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 6 2.4E-02 2 4.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 10 8.0E-03 1 2.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 9 4.6E-02 2 8.0E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 33 3.4E-02 1 5.9E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 6 2.9E-02 1 7.9E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 2 3.8E-03 1 9.1E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 4 8.1E-03 1 9.8E-03
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 5 9.5E-03 1 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 30 4.1E-02 2 2.2E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 4 2.4E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 7 2.3E-02 1 1.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 20 3.3E-02 3 3.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 8 3.0E-02 2 2.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 21 4.0E-02 2 2.7E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 2 2.5E-03 1 1.4E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 1 1.6E-02 1 1.4E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 1 1.8E-02 1 1.4E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 19 9.0E-02 1 1.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 22 4.3E-02 2 2.9E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 8 9.1E-03 1 1.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 21 3.4E-02 1 1.6E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 6 1.3E-02 1 1.6E-02