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GENE - TERM ANNOTATION REPORT

RGD ID: 12346305
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SLC33A1
Name: solute carrier family 33 member 1
Acc ID: DOID:0110794
Term: hereditary spastic paraplegia 42
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. (DO)
Definition Source(s): PMID:19061983 "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)
SLC33A1 ISOSLC33A1 (Homo sapiens)7240710OMIM  
SLC33A1 ISOSLC33A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 42PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347
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