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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 171 0.33 213 0.28
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 269 0.24 255 0.27
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 145 0.19 3 4.4E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 179 0.18 7 1.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 158 0.18 6 8.7E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 129 0.18 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 150 0.18 3 3.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 201 0.17 5 6.4E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 92 0.16 9 8.8E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 117 0.16 6 9.1E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 142 0.16 5 7.4E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 119 0.16 4 6.1E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 110 0.16 75 9.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 140 0.16 1 1.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 308 0.16 17 1.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 125 0.15 2 2.9E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 130 0.15 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 171 0.15 3 4.0E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 115 0.15 3 4.4E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 91 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 203 0.15 12 1.3E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 187 0.15 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 118 0.14 1 1.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 322 0.14 8 1.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 206 0.14 7 1.0E-02