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GENE - TERM ANNOTATION REPORT

RGD ID: 1307142
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pls1
Name: plastin 1
Acc ID: DOID:0112167
Term: autosomal dominant nonsyndromic deafness 76
Definition: An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30872814/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31397523/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31432506/ "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)
Pls1 ISOPLS1 (Homo sapiens)7240710OMIM  
Pls1 ISOPLS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related conditionPMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221
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