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GENE - TERM ANNOTATION REPORT

RGD ID: 1308999
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cldn9
Name: claudin 9
Acc ID: DOID:0112162
Term: autosomal recessive nonsyndromic deafness 116
Definition: An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31175426/ "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)
Cldn9 ISOCLDN9 (Homo sapiens)7240710OMIM  
Cldn9 ISOCLDN9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 116PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841
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