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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | ubiquitin protein ligase E3A | |
| Synonyms |
ANCR E6-AP FLJ26981 Angelman syndrome AS |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_120365 |
|
| alternative_term |
ANCR E6-AP FLJ26981 Angelman syndrome AS
|
|
| hasDbXref |
Genatlas:UBE3A ClinVar:UBE3A SwissProt:Q05086 Reactome:Q05086 OMIM:601623 Ensembl:ENSG00000114062 HGNC:12496
|
|
| label |
ubiquitin protein ligase E3A
|
|
| prefixIRI |
ORDO:Orphanet_120365
|
|
| prefLabel |
ubiquitin protein ligase E3A
|
|
| symbol |
UBE3A
|
|
| subClassOf |
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