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: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		4 0 1 0.25 0 0
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		7 0 1 0.14 0 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		31 0 1 3.2E-02 0 0
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		44 0 1 2.3E-02 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.3E-02 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 9.6E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 8.1E-03 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 1 7.8E-03 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 1 7.5E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 6.9E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 6.8E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 1 6.3E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 5.3E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 4.4E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 4.4E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 3.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.7E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.4E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.2E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.9E-03 0 0