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 553 321 0.17 21 3.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 265 0.12 20 3.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 43 8.6E-02 15 5.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 140 0.10 10 3.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 133 0.12 9 6.7E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 222 0.20 9 4.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 32 6.2E-02 9 5.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 144 0.12 8 1.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 136 0.14 8 6.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 136 0.17 8 3.4E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 24 5.0E-02 8 8.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 93 0.18 8 7.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 77 0.17 8 0.12
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 157 0.19 7 7.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 94 0.11 6 5.0E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 135 0.20 6 5.1E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 42 8.1E-02 6 9.1E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 21 5.0E-02 6 9.5E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 16 3.8E-02 6 5.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 84 9.4E-02 5 5.0E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 33 7.0E-02 5 6.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 76 9.4E-02 5 4.4E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 44 8.6E-02 5 5.1E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 24 14 3.2E-02 5 7.4E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 34 7.1E-02 5 5.3E-02