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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 241 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 64 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 143 0.12 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 68 0.12 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 175 0.12 1 1.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 99 0.12 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 67 0.12 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 157 0.12 1 3.3E-03
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 53 0.12 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 90 0.12 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 68 0.12 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 51 0.12 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 56 0.11 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 57 0.11 1 1.4E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 49 0.11 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 82 0.11 1 1.6E-03
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 58 0.11 1 2.9E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 65 0.11 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 69 0.11 1 1.5E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 56 0.11 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 49 0.11 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 246 0.11 1 6.0E-03
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 41 0.11 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 49 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 64 0.11 0 0