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GENE - TERM ANNOTATION REPORT

RGD ID: 1308245
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Coq8a
Name: coenzyme Q8A
Acc ID: DOID:0110535
Term: autosomal recessive nonsyndromic deafness 9
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10192385 "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)
Coq8a ISOCOQ8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 PMID:32961396 PMID:34663476
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