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GENE - TERM ANNOTATION REPORT

RGD ID: 3092
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mitf
Name: melanocyte inducing transcription factor
Acc ID: DOID:0050563
Term: nonsyndromic deafness
Definition: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness "DO" "DO", http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO" "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 "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)
Mitf ISOMITF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafnessPMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 PMID:30311386 PMID:31898538 PMID:34142234 PMID:34997062 PMID:8659547
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