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GENE - TERM ANNOTATION REPORT

RGD ID: 620779
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ptprq
Name: protein tyrosine phosphatase, receptor type, Q
Acc ID: DOID:0080269
Term: autosomal dominant nonsyndromic deafness 73
Definition: An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29309402/ "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)
Ptprq ISOPTPRQ (Homo sapiens)7240710OMIM  
Ptprq ISOPTPRQ (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73PMID:25741868 PMID:26467025 PMID:29309402
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