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GENE - TERM ANNOTATION REPORT

RGD ID: 620431
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pax3
Name: paired box 3
Acc ID: DOID:0111336
Term: craniofacial-deafness-hand syndrome
Definition: A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/6859126 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8664898 "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)
Pax3 ISOPAX3 (Homo sapiens)7240710OMIM  
Pax3 ISOPAX3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18553554
Pax3 ISOPAX3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofacial-deafness-hand syndromePMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 PMID:30311386 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 PMID:9856573
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