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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.9E-03 0 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		31 0 1 3.2E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 1 6.3E-03 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 1 7.8E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 6.9E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 4.4E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 9.6E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		4 0 1 0.25 0 0
CUI: C4048328
Disease: cervical cancer
cervical cancer 		1817 0 1 5.5E-04 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0