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 2 4.6E-03 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 2 2.1E-03 2 3.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 2 9.3E-04 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 2 1.1E-03 2 3.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 2 1.8E-03 2 6.8E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 1 1.6E-03 1 3.5E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 1 2.0E-03 1 6.0E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 2 2.4E-03 1 7.4E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 1 9.5E-03 1 7.6E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 1 6.0E-03 1 8.1E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 2 4.2E-03 2 1.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 2 2.4E-03 1 1.0E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 2 4.1E-03 1 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 2 2.8E-03 2 2.2E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 1 3.2E-03 1 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 1 4.3E-03 1 1.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 2 4.0E-03 2 2.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 1 2.1E-03 1 1.6E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 2 2.4E-03 2 3.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 2.0E-02 1 1.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 2 4.7E-03 1 1.7E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.4E-02 1 1.8E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 1 6.3E-03 1 1.9E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 1 2.6E-03 1 2.0E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 1 5.2E-03 1 2.0E-02