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GENE - TERM ANNOTATION REPORT

RGD ID: 3696
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc1a1
Name: solute carrier family 1 member 1
Acc ID: DOID:0060650
Term: dicarboxylic aminoaciduria
Definition: An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/18200002/ "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)
Slc1a1 ISOSLC1A1 (Homo sapiens)7240710OMIM  
Slc1a1 ISOSLC1A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Slc1a1 ISOSLC1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dicarboxylic aminoaciduria | ClinVar Annotator: match by term: Glutamate-aspartate transport defectPMID:21123949 PMID:25741868 PMID:28492532
Slc1a1 ISSSlc1a1 (Mus musculus)13592920MouseDOOMIM:222730 
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