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GENE - TERM ANNOTATION REPORT

RGD ID: 3698
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc1a3
Name: solute carrier family 1 member 3
Acc ID: DOID:0050994
Term: episodic ataxia type 6
Definition: An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)
Definition Source(s): https://www.omim.org/entry/612656 "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)
Slc1a3 ISOSLC1A3 (Homo sapiens)7240710OMIM  
Slc1a3 ISOSLC1A3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Slc1a3 ISOSLC1A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Episodic ataxia type 6PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28472652 PMID:28492532 PMID:29062094 PMID:29208948 PMID:30257206 PMID:32741053
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