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 AlteredExpression disease BEFREE Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. 21204213 2011
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Our results suggest that E6-AP functions as a cellular quality control ubiquitin ligase and, therefore, can be implicated not only in the pathogenesis of Angelman syndrome but also in the biology of neurodegenerative disorders involving protein aggregation. 19233847 2009
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Patients with AS had a much higher incidence of seizures with characteristic EEG findings, similar to those seen in mice that are deficient in a single gene (UBE3A) that displays regional brain-specific imprinting in humans and mice. 15668048 2005
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE These results indicate sociability is repressed by social experience and the endogenous levels of UBE3A protein and suggest some social behavioral features observed in Angelman syndrome may reflect an increased social motivation. 28411125 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE The mechanisms involved include transcriptional regulation in RTT, translational regulation in FXS and TSC, and UBE3A-mediated proteolysis in AS. 22142420 2013
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Since the initial recognition that Angelman syndrome is caused by maternal deficiency of the E6-AP ubiquitin E3 ligase (gene symbol UBE3A), several. other disorders of E3 ligases have been identified, including autosomal recessive juvenile Parkinson disease, the APECED form of autoimmune polyendocrinopathy syndrome, von Hippel-Lindau syndrome, and congenital polycythemia. 15273504 2004
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 Biomarker disease BEFREE Here, we report that ganaxolone, a synthetic neurosteroid that acts as a positive allosteric modulator of synaptic and extrasynaptic GABA<sub>A</sub> receptors, was anxiolytic, anticonvulsant, and improved motor deficits in the Ube3a-deficient mouse model of AS when administered by implanted mini-pump for 3 days or 4 weeks. 27986596 2017
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 Biomarker disease BEFREE The present study is the first to determine that the Ube3a protein ablation seen in the AS mouse model is also characteristic of AS patients and the silencing of the paternal UBE3A allele appears to be lifelong. 22560727 2012
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE Here we used Drosophila melanogaster to screen for the targets of this ubiquitin ligase under conditions of both decreased (as in AS) or increased (as in dup(15)) levels of the fly Dube3a or human UBE3A proteins. 23626758 2013
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 AlteredExpression disease BEFREE Interestingly, HDAC inhibitor also significantly increased the expression of Ube3a in cultured neuronal cells and in the brain of wild type mice but not in AS mice. 28576709 2017
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 Biomarker disease BEFREE Mutation analysis of UBE3A in Angelman syndrome patients. 9585605 1998
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 AlteredExpression disease BEFREE Angelman syndrome (AS; OMIM 105830) is a neurodevelopmental disorder and is due to the loss of maternally expressed UBE3A gene. 23686718 2013
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 Biomarker disease BEFREE This maternal imprinting defect results in expression of maternal Ube3a-as and repression of Ube3a in cis, providing evidence that Ube3a is regulated by its antisense and creating the first reported mouse model for AS imprinting defects. 16368707 2006
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes. 31143434 2019