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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:0110950
Term: Waardenburg syndrome type 2A
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 mutation in the MITF gene on chromosome 3p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874167 "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)
Sox10 ISOSOX10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndrome type 2APMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368
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