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GENE - TERM ANNOTATION REPORT

RGD ID: 12405432
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: LMNA
Name: lamin A/C
Acc ID: DOID:0110498
Term: autosomal recessive nonsyndromic deafness 4
Definition: An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9500541 "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)
LMNA ISOLMNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueductPMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532
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