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GENE - TERM ANNOTATION REPORT

RGD ID: 1565522
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem132e
Name: transmembrane protein 132E
Acc ID: DOID:0111634
Term: autosomal recessive nonsyndromic deafness 99
Definition: An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12673573 "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)
Tmem132e ISOTMEM132E (Homo sapiens)7240710OMIM  
Tmem132e ISOTMEM132E (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 99PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31656313
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