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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 33 6.4E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 33 6.4E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 0 13 6.3E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 35 6.3E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 28 6.3E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 19 6.3E-02 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 20 6.2E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 21 6.2E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 18 6.2E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 14 6.1E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 14 6.1E-02 0 0
CUI: C0683322
Disease: Mental impairment
Mental impairment 		67 0 13 6.1E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 50 6.1E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 14 6.0E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 32 5.9E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 19 5.9E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 34 5.9E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 30 5.8E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 14 5.8E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 21 5.7E-02 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 20 5.7E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 20 5.6E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 28 5.6E-02 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 39 5.5E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 12 5.5E-02 0 0