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 Biomarker disease BEFREE Specifically, Fmr1 (fragile X syndrome) and Ube3a (Angelman syndrome) are transcriptionally regulated by NPAS3, as is the neurogenesis regulator Notch. 28499489 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease CLINGEN Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 27174604 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE However, such efforts have yielded less-than-expected rescue effects in AS mouse models, raising the concern that activation of paternal UBE3A after a critical period cannot correct all the CNS defects that developed in a UBE3A-deficient environment. 26558806 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally-inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS) at the unmethylated paternal locus. 27860204 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE This new Angelman syndrome iPSC line allows to study imprinted gene regulation on both parental alleles and to dissect molecular pathways affected by the absence of UBE3A protein. 27484051 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 CausalMutation disease CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. 27323188 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. 27232889 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 AlteredExpression disease BEFREE While Angelman Syndrome is known to be associated with the loss of maternal expression of the ubiquitin-protein ligase E3A gene, the molecular sequelae of this loss remain to be fully understood. 27327493 2016
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 CausalMutation disease CLINVAR 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 Biomarker disease BEFREE While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. 26040994 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease MGD Together, these findings suggest that Ube3a reinstatement early in development may be necessary to prevent or rescue most AS-associated phenotypes and should be considered in future clinical trial design. 25866966 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). 26559560 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism. 26255772 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE A recent study has revealed that loss of neuronal expression of the paternally imprinted gene Ube3a in Angelman syndrome results in selective neuronal loss of robust circadian oscillations, with a resulting behavioural phenotype, and adipose tissue accumulation. 25734270 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease BEFREE We found a unique link between neuronal imprinting of Ube3a and circadian rhythms in two mouse models of AS, including enfeebled circadian activity behavior and slowed molecular rhythms in ex vivo brain tissues. 25660546 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease CLINVAR An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. 26255772 2015
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 AlteredExpression disease BEFREE Angelman syndrome (AS) is caused by a lack of expression of the maternally inherited UBE3A gene in the brain. 24779060 2014
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 CausalMutation disease CLINVAR 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 CLINVAR 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 Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. 25099823 2014
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. 23551092 2014
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 GeneticVariation disease BEFREE 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