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: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 17 0.26 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 14 0.23 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 13 0.22 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 12 0.20 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 11 0.20 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 11 0.19 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 11 0.19 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 11 0.19 0 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 76 10 0.19 1 5.1E-03
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 12 0.18 0 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 10 19 0.17 6 4.8E-02
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 11 0.16 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 30 9 0.16 1 6.6E-03
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 12 0.16 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 12 0.16 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 32 0.15 8 3.3E-02
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 11 0.14 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 25 0.14 3 2.0E-02
CUI: C0239594
Disease: Short finger
Short finger 		37 0 11 0.14 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 11 0.14 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 24 0.13 0 0
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		10 7 7 0.12 1 7.8E-03
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 0 11 0.12 0 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		11 0 7 0.12 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 7 0.12 0 0