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GENE - TERM ANNOTATION REPORT

RGD ID: 3735
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sox10
Name: SRY-box transcription factor 10
Acc ID: DOID:0110949
Term: Waardenburg syndrome type 3
Definition: A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8447316 "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)
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