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: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.47 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 15 0.45 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.45 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 15 0.44 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 16 0.43 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.42 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.42 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 16 0.41 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 17 0.36 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 0.33 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 14 0.28 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 14 0.27 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 14 0.26 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 17 0.26 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 14 0.25 0 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		17 0 8 0.21 0 0
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		6 0 6 0.20 0 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 0 18 0.19 0 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 6 0.17 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 6 0.17 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 0 6 0.17 0 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 0 24 0.16 0 0
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		8 0 5 0.15 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 16 0.15 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 14 0.14 0 0