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GENE - TERM ANNOTATION REPORT

RGD ID: 708567
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Polr2f
Name: RNA polymerase II, I and III subunit F
Acc ID: DOID:0110956
Term: Waardenburg syndrome type 2E
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10441344 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "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)
Polr2f ISOPOLR2F (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvementPMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 PMID:18348267 PMID:18627047 PMID:19208381 PMID:20478267 PMID:21898658 PMID:21965087 PMID:23237859 PMID:23643381 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28000701 PMID:28492532 PMID:31152317 PMID:31427586 PMID:32853555 PMID:32908489 PMID:33442024 PMID:33597575 PMID:33865100 PMID:34142234 PMID:35802133 PMID:36633841 PMID:8911608
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