Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.070 | Biomarker | group | BEFREE | The complete characterization of the ubiquitination pathway of an UBE3A substrate is important due to the role of this E3 ligase in rare neurological disorders as Angelman syndrome. | 31130875 | 2019 | ||||
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0.070 | GeneticVariation | group | BEFREE | Abnormal mTORC1 activation has been implicated in several developmental neurological disorders, including Angelman syndrome (AS), which is caused by maternal deficiency of the ubiquitin E3 ligase UBE3A. | 30020076 | 2018 | ||||
|
0.070 | GeneticVariation | group | BEFREE | Loss-of-function mutations in the UBE3A ubiquitin ligase are associated with Angelman syndrome (AS), a severe neurologic disorder. | 30470726 | 2018 | ||||
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0.070 | AlteredExpression | group | BEFREE | Ube3a expression constitutes a direct mechanistic connection between symptoms of a human neurological disorder and the central circadian clock mechanism. | 25660546 | 2015 | ||||
|
0.070 | GeneticVariation | group | BEFREE | The ubiquitin ligase E6-AP (E6-associated protein) represents a prime example for the notion that deregulated modification of proteins with ubiquitin contributes to the development of human disease: loss of E6-AP function by mutation is responsible for the development of AS (Angelman syndrome), a neurological disorder, and unscheduled activation of E6-AP by complex formation with the E6 oncoprotein of HPVs (human papillomaviruses) contributes to cervical carcinogenesis. | 18793139 | 2008 | ||||
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0.070 | GeneticVariation | group | BEFREE | The E6AP ubiquitin-protein ligase (E3) mediates the human papillomavirus-induced degradation of the p53 tumor suppressor in cervical cancer and is mutated in Angelman syndrome, a neurological disorder. | 10558980 | 1999 | ||||
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0.070 | Biomarker | group | BEFREE | Disruption of the maternal copy of E6-AP is correlated with Angelman syndrome (AS), a genetic neurological disorder characterized by severe mental retardation, seizures, speech impairment, and other symptoms. | 9891052 | 1999 |