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GENE - TERM ANNOTATION REPORT

RGD ID: 1309356
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rxylt1
Name: ribitol xylosyltransferase 1
Acc ID: DOID:9004053
Term: Autosomal Dominant Auditory Neuropathy 2
Definition: A disease characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Caused by heterozygous mutation in the ATP11A gene on chromosome 13q34.
Definition Source(s): OMIM:620384
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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