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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE UBE3A is an E3 ubiquitin ligase that targets proteins for degradation and trafficking, so finding UBE3A substrates and interacting partners is critical to understanding Dup15q ASD. 30787400 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 AlteredExpression disease BEFREE Conversely, copy number variations (CNVs) that result in the overexpression of E6AP are strongly associated with the development of autism spectrum disorders (ASDs), defined by decreased communication, impaired social interest, and increased repetitive behavior. 31114479 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Deficiency in the E3 ubiquitin ligase UBE3A leads to the neurodevelopmental disorder Angelman syndrome (AS), while additional dosage of UBE3A is linked to autism spectrum disorder. 31160454 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE By identifying reduced RA signaling as an underlying mechanism in ASD phenotypes linked to UBE3A hyperactivities, our findings introduce a new vista of ASD etiology and facilitate a mode of therapeutic development against this increasingly prevalent disease. 29076503 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE The E6-associated protein (E6AP, an E3 ubiquitin protein ligase enzyme) is encoded by the gene UBE3A, which is located in this region, and it has been shown that deregulation of E6AP gives rise to AS and neuropathology of autism spectrum disorders (ASDs) (e.g., autism and Rett syndromes). 29388081 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Deregulation of the HECT ubiquitin ligase UBE3A/E6AP has been implicated in Angelman syndrome as well as autism spectrum disorders. 30257870 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE These anatomical data may help to elucidate the role of UBE3A in Angelman syndrome and autism spectrum disorder. 30364390 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE This study contributes to a deeper understanding of the cellular functions of UBE3A and its potential role in pathways that may be affected in Angelman syndrome, UBE3A-associated autism spectrum disorders, and human papillomavirus-associated cancers. 29426014 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE In revealing an important role for Ube3A/E6AP in ASD-related developmental alteration in dendritic arborization and synapse formation, our findings provide new insights into the pathogenesis of Ube3A/E6AP-dependent ASD.<b>SIGNIFICANCE STATEMENT</b> Copy number variation of the <i>UBE3A</i> gene and aberrant overexpression of the gene product E6AP protein is a common cause of autism spectrum disorders (ASDs). 29175955 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE UBE3A) have been associated with an increased risk for autism spectrum disorders and intellectual disability (ASD/ID). 27365114 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE A literature search for genes that have been implicated in ASD yielded 14 candidate genes (OXTR, SHANK3, BCL2, RORA, EN2, RELN, MECP2, AUTS2, NLGN3, NRXN1, SLC6A4, UBE3A, GABA, AFF2) that were epigenetically modified in relation to ASD. 25687563 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN. 23468062 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Defects in the activity and the dosage of E6AP are linked to Angelman syndrome and to autism spectrum disorders, respectively, highlighting the need for precise control of the enzyme. 22645313 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 AlteredExpression disease BEFREE Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs. 21624971 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE The degradation of Ephexin5 promotes EphB-dependent excitatory synapse development and is mediated by Ube3A, a ubiquitin ligase that is mutated in the human cognitive disorder Angelman syndrome and duplicated in some forms of Autism Spectrum Disorders (ASDs). 21029865 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE UBE3A mutations due to lack of the homologous to the E6-associated protein carboxyl terminus domain (n = 3) were associated with the ASD, while more distal mutations (n = 3) seem to escape from a co-morbid diagnosis of autism/autism spectrum. 17415598 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE These results suggest that an orthologous UBE3A post-translational regulatory pathway regulates neuronal outgrowth in the mammalian brain and that dysregulation of this pathway may result in neurological phenotypes including AS and possibly other autism spectrum disorders. 16905559 2006