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: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 46 0.12 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 141 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 72 0.12 5 3.8E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 45 0.12 25 7.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 217 0.12 41 6.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 88 0.11 7 4.0E-02
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 15 49 0.11 2 1.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 48 0.11 25 5.1E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 47 0.11 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 47 0.11 3 2.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 69 0.11 3 4.2E-03
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 38 60 0.11 1 7.0E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 67 0.10 1 5.0E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 91 0.10 5 2.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 46 0.10 4 2.3E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 69 50 0.10 2 1.2E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 68 1.0E-01 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 77 9.9E-02 1 6.5E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 63 9.9E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 53 9.9E-02 1 6.8E-03
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 45 9.9E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 77 9.9E-02 4 2.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 69 9.9E-02 4 2.3E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 65 9.8E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 37 9.7E-02 0 0