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: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		4 0 3 0.43 0 0
CUI: C4023684
Disease: EEG with spike-wave complexes (>3.5 Hz)
EEG with spike-wave complexes (>3.5 Hz) 		5 0 3 0.38 0 0
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		7 0 3 0.30 0 0
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		16 0 5 0.29 0 0
CUI: C4023471
Disease: EEG with abnormally slow frequencies
EEG with abnormally slow frequencies 		3 0 2 0.29 0 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		11 0 3 0.21 0 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 0 3 0.20 0 0
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		6 0 2 0.20 0 0
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		6 0 2 0.20 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 3 0.20 0 0
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		6 0 2 0.20 0 0
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		13 0 3 0.19 0 0
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		13 0 3 0.19 0 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		7 0 2 0.18 0 0
CUI: C1963933
Disease: Punding
Punding 		7 0 2 0.18 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 3 0.18 0 0
CUI: C0598121
Disease: Hypoglycorrhachia
Hypoglycorrhachia 		1 0 1 0.17 0 0
CUI: C0751863
Disease: Lead Poisoning, Nervous System, Adult
Lead Poisoning, Nervous System, Adult 		1 0 1 0.17 0 0
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		1 0 1 0.17 0 0
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		1 0 1 0.17 0 0
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		1 0 1 0.17 0 0
CUI: C1847507
Disease: Paroxysmal lethargy
Paroxysmal lethargy 		1 0 1 0.17 0 0
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		1 0 1 0.17 0 0
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		1 0 1 0.17 0 0
CUI: C3264000
Disease: Refractory juvenile myoclonic epilepsy
Refractory juvenile myoclonic epilepsy 		1 0 1 0.17 0 0