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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 53 5.3E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 47 2.1E-02 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 58 3.1E-02 5 8.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 20 7.2E-02 1 2.4E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 30 1.8E-02 1 2.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 33 4.2E-02 1 2.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 62 5.4E-02 3 1.0E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 20 6.2E-02 2 6.9E-03
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 266 6 6.8E-02 1 3.6E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 11 4.7E-02 3 1.2E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 19 2.3E-02 1 4.8E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 22 3.5E-02 2 1.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 23 0.16 1 5.1E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 35 3.5E-02 1 5.7E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 58 6.6E-02 1 6.9E-03
CUI: C0011334
Disease: Dental caries
Dental caries 		330 126 6 1.5E-02 1 7.4E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		74 124 3 1.9E-02 1 7.5E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 12 5.0E-02 1 7.6E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 15 4.4E-02 1 8.6E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 9 1.6E-02 1 8.7E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 36 8.3E-02 2 1.9E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 16 2.9E-02 1 1.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 49 6.5E-02 1 1.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 40 8.5E-02 1 1.0E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 11 0.11 1 1.1E-02