Source: CLINVAR ×
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: C1854882
Disease: Absent speech
Absent speech 		46 72 13 0.17 8 7.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 8 0.14 8 0.12
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 8 0.13 5 5.1E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 8 0.12 5 6.1E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		17 19 6 0.11 6 9.7E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 7 0.11 7 8.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 8 0.11 8 8.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 10 0.10 6 5.0E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 11 5 0.10 5 9.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 8 0.10 6 5.7E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		11 11 5 0.10 2 3.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 12 1.0E-01 9 5.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 18 9.7E-02 15 5.4E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 6 9.7E-02 5 7.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 9 9.4E-02 9 7.3E-02
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 4 9.3E-02 4 8.0E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 5 9.3E-02 4 6.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 14 9.2E-02 8 3.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 23 8.9E-02 20 4.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 8.8E-02 3 2.7E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		7 7 4 8.7E-02 2 3.7E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 6 8.6E-02 5 5.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 7 8.5E-02 5 4.5E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 8.5E-02 6 9.1E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 24 5 8.5E-02 5 7.4E-02