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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 21 6.1E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 22 6.1E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 13 6.0E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 13 6.0E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 13 5.8E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 19 5.8E-02 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 18 5.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 29 5.8E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 31 5.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 29 5.7E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 46 5.6E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 24 5.5E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 17 5.4E-02 0 0
CUI: C0683322
Disease: Mental impairment
Mental impairment 		67 0 11 5.4E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 27 5.3E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 19 5.3E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 18 5.3E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 13 5.3E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 28 5.3E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 20 5.3E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 21 5.3E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 18 5.2E-02 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 0 10 5.1E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 25 5.1E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 13 5.0E-02 0 0