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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:0110955
Term: Waardenburg syndrome type 4C
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9462749 "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.
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