Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 GeneticVariation disease BEFREE Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. 27323320 2016
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 GeneticVariation disease BEFREE Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. 24796722 2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 Biomarker disease BEFREE It is also possible that UBE3A and another gene located nearby, gamma-aminobutyric receptorbeta3 subunit, may interact in some way, and result in the severe epilepsy seen with AS. 15668048 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 GeneticVariation disease BEFREE We report the case of a 29-year-old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of the usually milder, drug-responsive epilepsy associated with Angelman syndrome due to the UBE3A mutation.[Published with video sequences]. 16162432 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 Biomarker disease CTD_human GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior. 15878204 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.350 GeneticVariation disease BEFREE Angelman syndrome is characterised by neurodevelopmental impairment (with or without epileptic seizures) associated with functional deficit of the UBE3A gene. 12973656 2003