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: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 4 0.24 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 4 0.18 0 0
CUI: C4551850
Disease: Eyelid myoclonias
Eyelid myoclonias 		3 0 2 0.18 0 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		11 0 3 0.17 0 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		11 0 3 0.17 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 4 0.16 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 3 0.16 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 0 3 0.16 0 0
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		5 0 2 0.15 0 0
CUI: C0035127
Disease: Cumulative Trauma Disorders
Cumulative Trauma Disorders 		6 0 2 0.14 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 5 0.14 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 3 0.14 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 4 0.14 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 3 0.14 0 0
CUI: C1708550
Disease: Intimal sarcoma
Intimal sarcoma 		7 0 2 0.13 0 0
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		17 0 3 0.12 0 0
CUI: C0338478
Disease: Idiopathic Myoclonic Epilepsy
Idiopathic Myoclonic Epilepsy 		8 0 2 0.12 0 0
CUI: C0338479
Disease: Symptomatic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy 		8 0 2 0.12 0 0
CUI: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic 		8 0 2 0.12 0 0
CUI: C0751120
Disease: Benign Infantile Myoclonic Epilepsy
Benign Infantile Myoclonic Epilepsy 		8 0 2 0.12 0 0
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		8 0 2 0.12 0 0
CUI: C1704431
Disease: Disorder of electrolytes
Disorder of electrolytes 		8 0 2 0.12 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 3 0.12 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 3 0.12 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 7 0.12 1 7.8E-03