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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE UBE3A-maternal deficient mice (AS mice) exhibit many typical features of AS including cognitive and motor deficits but the underlying mechanism of these behavioral abnormalities is poorly understood. 27581300 2017
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head 		0.010 GeneticVariation disease BEFREE This study showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele. 10424818 1999
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 Biomarker disease BEFREE The preserved expression of gamma-aminobutyric acid type A receptor subunit genes located proximal to UBE3A might explain the low prevalence of absence seizures in this population. 24796722 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 Biomarker phenotype BEFREE The preserved expression of gamma-aminobutyric acid type A receptor subunit genes located proximal to UBE3A might explain the low prevalence of absence seizures in this population. 24796722 2015
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.010 Biomarker phenotype BEFREE Although some progress has been made in understanding hippocampal-related memory and learning aspects of the disorder using Ube3a deficient mice, the numerous motoric abnormalities associated with AS (ataxia, action tremor, dysarthria, dysphagia, sialorrhea and excessive chewing/mouthing behaviors) have not been fully explored with mouse models. 18413322 2008
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 Biomarker disease BEFREE These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients. 21733131 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE These findings suggest that aberrant function of Ube3a could influence the progression of AD and restoring normal level of Ube3a might be beneficial for AD. 29016862 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease LHGDN Are there distinctive sleep problems in Angelman syndrome? 17765640 2008
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 CLINGEN Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 27174604 2016
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 CausalMutation disease CLINVAR The spectrum of mutations in UBE3A causing Angelman syndrome. 9887341 1999
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