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GENE - TERM ANNOTATION REPORT

RGD ID: 1620098
Species: Mus musculus
RGD Object: Gene
Symbol: Polr1d
Name: polymerase (RNA) I polypeptide D
Acc ID: DOID:0080790
Term: Treacher Collins syndrome 2
Definition: A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25790162/ "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)
Polr1d ISOPOLR1D (Homo sapiens)7240710OMIM  
Polr1d ISOPOLR1D (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Treacher Collins syndrome 2PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304
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