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GENE - TERM ANNOTATION REPORT

RGD ID: 12647623
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Kcnq4
Name: potassium voltage-gated channel subfamily Q member 4
Acc ID: DOID:0110558
Term: autosomal dominant nonsyndromic deafness 2A
Definition: An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10025409 "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)
Kcnq4 ISOKCNQ4 (Homo sapiens)7240710OMIM  
Kcnq4 ISOKCNQ4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related conditionPMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:11915881 PMID:12112653 PMID:15699719 PMID:16596322 PMID:17576681 PMID:18030493 PMID:18786918 PMID:18797286 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23451214 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:26467025 PMID:26515070 PMID:27068579 PMID:28492532 PMID:30311386 PMID:30413759 PMID:31028865 PMID:31995783 PMID:34622280 PMID:8035838 PMID:9126484 PMID:9536098
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