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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:0050766
Term: choreaacanthocytosis
Definition: A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Chorea_acanthocytosis "DO" "DO", https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9382101 "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)7240710OMIM  
VPS13A ISOVPS13A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related conditionPMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 PMID:9536098
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