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GENE - TERM ANNOTATION REPORT

RGD ID: 628870
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc17a8
Name: solute carrier family 17 member 8
Acc ID: DOID:0110555
Term: autosomal dominant nonsyndromic deafness 25
Definition: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18674745 "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)
Slc17a8 ISOSLC17A8 (Homo sapiens)7240710OMIM  
Slc17a8 ISOSLC17A8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Slc17a8 ISOSLC17A8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 25PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591
Slc17a8 ISSSlc17a8 (Mus musculus)13592920MouseDOOMIM:605583 
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