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: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 35 0.18 5 0.16
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 7 5 3.0E-02 4 0.14
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 9 4.9E-02 5 0.13
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		3 3 3 1.9E-02 3 0.12
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 8 4.8E-02 3 0.12
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 6 3.5E-02 3 0.12
CUI: C0013132
Disease: Drooling
Drooling 		95 14 14 5.9E-02 4 0.11
CUI: C0457756
Disease: Tooth absent
Tooth absent 		5 6 3 1.9E-02 3 0.11
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 9 3.8E-02 4 1.0E-01
CUI: C3150077
Disease: Mild short stature
Mild short stature 		25 8 3 1.7E-02 3 1.0E-01
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 8 5 3.1E-02 3 1.0E-01
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 16 8.1E-02 4 9.8E-02
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 9 7 4.0E-02 3 9.7E-02
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		42 9 11 5.9E-02 3 9.7E-02
CUI: C0234518
Disease: Slurred speech
Slurred speech 		39 10 3 1.6E-02 3 9.4E-02
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 10 3 1.6E-02 3 9.4E-02
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 10 7 3.2E-02 3 9.4E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 14 5.9E-02 3 9.1E-02
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 11 5 2.5E-02 3 9.1E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 7 3.2E-02 3 9.1E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 7 4.1E-02 3 9.1E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 24 9 4.1E-02 4 8.9E-02
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 3 1.6E-02 3 8.6E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 35 0.12 3 8.6E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 21 5.8E-02 4 8.3E-02