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GENE - TERM ANNOTATION REPORT

RGD ID: 1304784
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmx1a
Name: LIM homeobox transcription factor 1 alpha
Acc ID: DOID:0110591
Term: autosomal dominant nonsyndromic deafness 7
Definition: An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8842739 "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)
Lmx1a ISOLMX1A (Homo sapiens)7240710OMIM  
Lmx1a ISOLMX1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lmx1a ISOLMX1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 7PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227
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