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GENE - TERM ANNOTATION REPORT

RGD ID: 11756995
Species: Pan paniscus
RGD Object: Gene
Symbol: TMPRSS3
Name: transmembrane serine protease 3
Acc ID: DOID:9258
Term: Waardenburg syndrome
Definition: A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Waardenburg_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract "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)
TMPRSS3 ISOTMPRSS3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndromePMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386
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