UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a congenital neuro-developmental disorder typically occurring due to functional defects of the UBE3A gene caused by uniparental disomy (UPD), translocation or single gene mutation. 31173236 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes. 23256887 2012
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE At least one other gene, the E6-associated protein ubiquitin-protein ligase (UBE3A) gene, has been implicated in AS, so the relative contribution of the GABRB3 gene alone or in combination with other genes remains to be established. 9763493 1998
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE We have found that a 15q inversion inherited by an AS child from her normal mother disrupts the 5' end of the UBE3A (E6-AP) gene, the product of which functions in protein ubiquitination. 8988171 1997
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. 24796722 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE We conclude that dHPLC is a reliable and convenient method for detecting mutations in UBE3A causing Angelman syndrome. 14641994 2003
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE In this latter group, mutations in the UBE3A gene have recently been shown to be a cause of AS. 10424818 1999
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease UNIPROT Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome. 25212744 2014
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. 29250725 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE By combining our data with those of the literature, we demonstrate statistically that the frequency of UBE3A mutations is significantly higher in the familial than sporadic subsets of AS. 14981718 2004
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. 28898887 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. 31490639 2020
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE The E6AP ubiquitin-protein ligase (E3) mediates the human papillomavirus-induced degradation of the p53 tumor suppressor in cervical cancer and is mutated in Angelman syndrome, a neurological disorder. 10558980 1999
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE As compared to training with massed trials, spaced training significantly improved learning in both the Ts65Dn trisomy mouse model of Down syndrome and the maternally inherited Ube3a mutant mouse model of Angelman syndrome. 31182707 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Other genetic mechanisms such as paternal uniparental disomy, imprinting defect and mutation in the UBE3A gene are present in smaller groups of patients with AS. 19455185 2009
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Perturbations in activity and dosage of the UBE3A ubiquitin-ligase have been linked to Angelman syndrome and autism spectrum disorders. 29426014 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE The second family is a mother and son both of whom have mental retardation but no other features of Angelman syndrome despite an extensive DNA deletion on the telomeric side of UBE3A. 9321755 1997
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Our results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. 30826071 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Rare cases of familial recurrence of AS show either imprinting center (IC) or UBE3A mutations. 14510623 2003
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. 20729760 2010
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease CLINVAR [Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]. 29188609 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE The primary genetic cause of Angelman syndrome is a maternally transmitted mutation in the Ube3a gene, which has been successfully modeled in Ube3a mutant mice. 31730795 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-q13 including UBE3A gene. 30605843 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE In chromosomal structure analyses, we found four de novo CNVs and one de novo chromosomal rearrangement event, including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1, which causes Angelman syndrome and microcephaly, and a disrupted TNR due to de novo chromosomal translocation t(1; 5)(q25.1; q33.2). 30392784 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. 28436452 2017