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: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 77 0.17 8 0.12
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 21 5.0E-02 6 9.5E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 42 8.1E-02 6 9.1E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 12 3.1E-02 5 9.1E-02
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 14 34 6.8E-02 5 8.6E-02
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 4 5 1.3E-02 4 8.2E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 24 5.0E-02 8 8.0E-02
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 4 1.0E-02 4 8.0E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 157 0.19 7 7.8E-02
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 8 3 7.6E-03 4 7.5E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 24 14 3.2E-02 5 7.4E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 68 0.14 5 7.2E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 33 7.4E-02 4 7.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 93 0.18 8 7.1E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 35 6.8E-02 4 6.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 133 0.12 9 6.7E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 15 29 6.4E-02 4 6.7E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 40 7.2E-02 4 6.5E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 14 3.2E-02 4 6.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 136 0.14 8 6.2E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 20 4.0E-02 4 6.1E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 25 5.1E-02 4 6.1E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 33 7.0E-02 5 6.0E-02
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 4 3 7.8E-03 3 6.0E-02
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 9 2.3E-02 3 6.0E-02