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 0.61 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.58 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.54 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.54 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.52 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 14 0.50 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 15 0.45 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 16 0.43 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 0.40 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 10 0.40 0 0
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		13 0 10 0.38 0 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		11 0 9 0.36 0 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 0 9 0.35 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 14 0.33 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 14 0.33 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 9 0.32 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 14 0.31 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 14 0.30 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 14 0.29 0 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		18 0 9 0.28 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 7 0.25 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 14 0.23 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 11 0.21 0 0
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		13 0 6 0.20 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 9 0.20 0 0