UBE3A, ubiquitin protein ligase E3A, 7337
N. diseases: 155; N. variants: 125
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The neurobehavioral and molecular phenotype of Angelman Syndrome. | 26219744 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Angelman syndrome: review of clinical and molecular aspects. | 24876791 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Molecular and Clinical Aspects of Angelman Syndrome. | 22670133 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. | 19213023 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. | 17940072 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Are there distinctive sleep problems in Angelman syndrome? | 17765640 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Angelman syndrome 2005: updated consensus for diagnostic criteria. | 16470747 | 2006 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. | 15263005 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | UBE3A/E6-AP mutations cause Angelman syndrome. | 8988171 | 1997 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. | 2309781 | 1990 |