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 		439 617 269 0.24 255 0.27
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 156 0.13 101 0.14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 677 0.32 88 8.4E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 149 0.14 87 0.10
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 633 0.25 54 5.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 112 0.11 45 4.8E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 85 8.2E-02 29 3.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 219 0.17 28 3.8E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 62 6.2E-02 28 4.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 72 6.8E-02 25 3.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 372 0.28 21 3.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 352 0.24 20 3.1E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 167 0.15 18 2.8E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 32 3.2E-02 17 2.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 175 0.14 16 2.6E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 230 0.19 16 2.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 338 0.23 15 2.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 420 0.25 15 1.8E-02
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		26 129 6 6.1E-03 13 1.9E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 102 9.0E-02 13 1.9E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 59 5.8E-02 13 2.1E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 39 3.9E-02 13 1.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 226 0.12 12 1.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 54 5.2E-02 11 1.8E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 87 8.3E-02 11 1.8E-02