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GENE - TERM ANNOTATION REPORT

RGD ID: 1346772
Species: Homo sapiens
RGD Object: Gene
Symbol: BSND
Name: barttin CLCNK type accessory subunit beta
Acc ID: DOID:0050565
Term: autosomal recessive nonsyndromic deafness
Definition: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "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)
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNBPMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587
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