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GENE - TERM ANNOTATION REPORT

RGD ID: 61856
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gabra2
Name: gamma-aminobutyric acid type A receptor subunit alpha 2
Acc ID: DOID:9005405
Term: Primary Ciliary Dyskinesia 49
Definition: An autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Caused by compound heterozygous mutation in the CFAP74 gene on chromosome 1p36.
Definition Source(s): OMIM:620197
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)
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