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GENE - TERM ANNOTATION REPORT

RGD ID: 14161319
Species: Sus scrofa
RGD Object: Gene
Symbol: REEP2
Name: receptor accessory protein 2
Acc ID: DOID:0110817
Term: hereditary spastic paraplegia 72A
Definition: A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24388663 "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)
REEP2 ISOREEP2 (Homo sapiens)7240710OMIM  
REEP2 ISOREEP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessivePMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 PMID:28491902 PMID:28492532 PMID:33526816 PMID:9536098
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