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GENE - TERM ANNOTATION REPORT

RGD ID: 1308536
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Coch
Name: cochlin
Acc ID: DOID:0111644
Term: autosomal recessive nonsyndromic deafness 110
Definition: An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29449721 "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)
Coch ISOCOCH (Homo sapiens)7240710OMIM  
Coch ISOCOCH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 110PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:31126177
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