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GENE - TERM ANNOTATION REPORT

RGD ID: 18747741
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: UBR7
Name: ubiquitin protein ligase E3 component n-recognin 7
Acc ID: DOID:0081063
Term: DICER1 syndrome
Definition: A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/dicer1-syndrome/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31409088/ "DO" "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ "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)
UBR7 ISOUBR7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DICER1 syndromePMID:26545620 PMID:26555935 PMID:28492532
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