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: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 14 8.7E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 22 8.1E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 16 7.9E-02 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 7 7.9E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 8 7.8E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 14 7.6E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 17 7.3E-02 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 7 7.3E-02 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 11 7.1E-02 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 14 6.8E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 9 6.6E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 9 6.6E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 9 6.4E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 13 6.2E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 25 5.9E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 18 5.8E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 7 5.7E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 6 5.6E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 7 5.6E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 11 5.5E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 15 5.5E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 7 5.5E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 7 5.3E-02 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 4 5.2E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 0 8 5.1E-02 0 0