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GENE - TERM ANNOTATION REPORT

RGD ID: 12527377
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Slc31a1
Name: solute carrier family 31 member 1
Acc ID: DOID:9008349
Term: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Definition: This disease is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy.
Definition Source(s): OMIM:620306
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)
Slc31a1 ISOSLC31A1 (Homo sapiens)7240710OMIM  
Slc31a1 ISOSLC31A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodegeneration and seizures due to copper transport defectPMID:25741868 PMID:35913762 PMID:36562171
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