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GENE - TERM ANNOTATION REPORT

RGD ID: 1347813
Species: Homo sapiens
RGD Object: Gene
Symbol: GJB3
Name: gap junction protein beta 3
Acc ID: DOID:10003
Term: sensorineural hearing loss
Definition: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)
Definition Source(s): https://medlineplus.gov/ency/article/003291.htm "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)
GJB3 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:11309368
GJB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathyPMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 PMID:19755382 PMID:21204020 PMID:22681493 PMID:24913888 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29044474 PMID:35580552
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