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GENE - TERM ANNOTATION REPORT

RGD ID: 1316922
Species: Mus musculus
RGD Object: Gene
Symbol: Catsper2
Name: cation channel, sperm associated 2
Acc ID: DOID:0110471
Term: autosomal recessive nonsyndromic deafness 16
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 STRC gene on chromosome 15q15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11687802 "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)
Catsper2 ISOCATSPER2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 16PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646
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