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GENE - TERM ANNOTATION REPORT

RGD ID: 18378483
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SLC52A2
Name: solute carrier family 52 member 2
Acc ID: DOID:0080785
Term: Brown-Vialetto-Van Laere syndrome 1
Definition: A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/20206331/ "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)
SLC52A2 ISOSLC52A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532
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