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GENE - TERM ANNOTATION REPORT

RGD ID: 14179146
Species: Sus scrofa
RGD Object: Gene
Symbol: VPS13A
Name: vacuolar protein sorting 13 homolog A
Acc ID: DOID:0050765
Term: neuroacanthocytosis
Definition: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Neuroacanthocytosis "DO" "DO", https://rarediseases.org/rare-diseases/neuroacanthocytosis/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1387/ "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)
VPS13A ISOVPS13A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acanthocytosis with neurologic disorderPMID:12404112 PMID:21145924 PMID:22777538 PMID:25741868 PMID:26467025 PMID:28492532
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