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: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 13 6.1E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 20 6.1E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 13 6.0E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 17 6.0E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 29 5.8E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 0 11 5.8E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 37 5.8E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 29 5.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 28 5.6E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 19 5.6E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 24 5.6E-02 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 17 5.6E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 13 5.4E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 11 5.4E-02 1 4.2E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 29 5.4E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 20 5.4E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 21 5.4E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 43 5.3E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 16 5.2E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 18 5.1E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 26 5.1E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 15 5.1E-02 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 17 5.1E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 14 5.1E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 22 5.0E-02 0 0