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GENE - TERM ANNOTATION REPORT

RGD ID: 1565449
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Parn
Name: poly(A)-specific ribonuclease
Acc ID: DOID:0070024
Term: autosomal recessive dyskeratosis congenita 6
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25893599 "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)
Parn ISOPARN (Homo sapiens)7240710OMIM  
Parn ISOPARN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Parn ISOPARN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6PMID:16199547 PMID:17576681 PMID:22834816 PMID:25640679 PMID:25741868 PMID:25848748 PMID:25893599 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30523342 PMID:30525901 PMID:31268371 PMID:31448843 PMID:34298581 PMID:35982159 PMID:9536098 PMID:9736620
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