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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 216 0.12 27 4.5E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 69 0.12 7 7.2E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 69 0.11 5 7.3E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 39 0.11 3 3.7E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 38 0.11 1 1.2E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 65 0.11 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 35 0.11 8 9.1E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 36 0.11 15 0.14
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 30 0.11 1 1.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 94 0.11 18 0.13
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 36 0.11 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 75 0.11 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 66 0.11 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 40 0.11 4 4.3E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 10 33 0.11 3 3.8E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 53 0.11 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 48 0.11 1 1.2E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 36 0.10 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 65 0.10 1 7.4E-03
CUI: C0239676
Disease: High forehead
High forehead 		211 0 41 0.10 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 26 0.10 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 57 0.10 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 30 0.10 2 2.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 46 0.10 4 2.3E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 60 0.10 3 2.8E-02