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GENE - TERM ANNOTATION REPORT

RGD ID: 1593244
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hecw2
Name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
Acc ID: DOID:13501
Term: Moebius syndrome
Definition: A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33474647/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hecw2 ISOHECW2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrumPMID:25741868
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