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GENE - TERM ANNOTATION REPORT

RGD ID: 1309882
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pdzd7
Name: PDZ domain containing 7
Acc ID: DOID:0110838
Term: Usher syndrome type 2A
Definition: An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9624053 "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)
Pdzd7 ISOPDZD7 (Homo sapiens)7240710OMIM  
Pdzd7 ISOPDZD7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pdzd7 ISOPDZD7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2APMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 PMID:29048736
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