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GENE - TERM ANNOTATION REPORT

RGD ID: 1359370
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lhfpl5
Name: LHFPL tetraspan subfamily member 5
Acc ID: DOID:0110518
Term: autosomal recessive nonsyndromic deafness 67
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16459341 "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)
Lhfpl5 ISOLHFPL5 (Homo sapiens)7240710OMIM  
Lhfpl5 ISOLHFPL5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:30177809
Lhfpl5 ISOLHFPL5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related conditionPMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 PMID:27148795 PMID:28492532 PMID:30177809 PMID:30298622 PMID:30303587 PMID:32747562
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