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GENE - TERM ANNOTATION REPORT

RGD ID: 68435
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Clcnka
Name: chloride voltage-gated channel Ka
Acc ID: DOID:0110146
Term: Bartter disease type 4b
Definition: A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15044642 "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)
Clcnka ISOCLCNKA (Homo sapiens)7240710OMIM  
Clcnka ISOCLCNKA (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Clcnka ISOCLCNKA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4BPMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532
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