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GENE - TERM ANNOTATION REPORT

RGD ID: 12557324
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Wrap53
Name: WD repeat containing antisense to TP53
Acc ID: DOID:0070019
Term: autosomal recessive dyskeratosis congenita 3
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21205863 "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)
Wrap53 ISOWRAP53 (Homo sapiens)7240710OMIM  
Wrap53 ISOWRAP53 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related conditionPMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 PMID:26822237 PMID:28125078 PMID:28492532 PMID:30552426 PMID:32303682 PMID:34573280 PMID:37149759
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