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GENE - TERM ANNOTATION REPORT

RGD ID: 8841477
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Gjb3
Name: gap junction protein beta 3
Acc ID: DOID:9007966
Term: Nonsyndromic Sensorineural Hearing Loss
Definition: null
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)
Gjb3no_associationISOGJB3 (Homo sapiens)9068941RGDDNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)PMID:15276679 REF_RGD_ID:12050154
Gjb3 ISOGJB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 
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