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GENE - TERM ANNOTATION REPORT

RGD ID: 10211
Species: Mus musculus
RGD Object: Gene
Symbol: Atp2b2
Name: ATPase, Ca++ transporting, plasma membrane 2
Acc ID: DOID:0110467
Term: autosomal recessive nonsyndromic deafness 12
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 CDH23 gene on chromosome 10q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11090341 "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)
Atp2b2 ISOATP2B2 (Homo sapiens)7240710OMIM  
Atp2b2 ISOATP2B2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Atp2b2 ISOATP2B2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier ofPMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 PMID:29452611
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