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: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 7 6.0E-02 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 6 3 5.9E-02 2 0.18
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 8 5.7E-02 2 4.5E-02
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 5.7E-02 1 6.2E-02
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 11 3 5.6E-02 3 0.20
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 3 5.6E-02 1 3.2E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 5.6E-02 2 0.22
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 9 2 5.4E-02 1 6.7E-02
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		32 0 3 5.4E-02 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 3 5.4E-02 0 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		13 0 2 5.3E-02 0 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		14 0 2 5.1E-02 0 0
CUI: C1849025
Disease: Oval face
Oval face 		14 4 2 5.1E-02 1 1.0E-01
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 9 2 5.1E-02 2 0.14
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		15 0 2 5.0E-02 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 2 5.0E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 4 4.9E-02 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 4 4.9E-02 2 8.0E-02
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 8 2 4.9E-02 1 7.1E-02
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		18 0 2 4.7E-02 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 2 4.7E-02 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 2 4.7E-02 2 0.22
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 3 4.6E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 2 4.5E-02 1 8.3E-02
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 7 2 4.5E-02 2 0.17