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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 408 0.95 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 148 0.20 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 239 0.19 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 199 0.19 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 107 0.19 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 123 0.18 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 208 0.17 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 142 0.17 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 146 0.17 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 162 0.17 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 214 0.16 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 115 0.16 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 86 0.16 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 297 0.15 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 214 0.15 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 71 0.15 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 105 0.15 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 144 0.15 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 79 0.14 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 170 0.14 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 76 0.14 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 88 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 119 0.14 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 113 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 118 0.13 0 0