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GENE - TERM ANNOTATION REPORT

RGD ID: 10505
Species: Mus musculus
RGD Object: Gene
Symbol: Ednrb
Name: endothelin receptor type B
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)
Ednrb ISOEDNRB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndrome type 2APMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 PMID:8852659
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