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GENE - TERM ANNOTATION REPORT

RGD ID: 619908
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Braf
Name: B-Raf proto-oncogene, serine/threonine kinase
Acc ID: DOID:14291
Term: Noonan syndrome with multiple lentigines
Definition: A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO" "DO", https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome "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)
Braf ISOBRAF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Noonan syndrome with multiple lentiginesPMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 PMID:22190897 PMID:23763990 PMID:23950000 PMID:24033266 PMID:24920063 PMID:25741868 PMID:28404629 PMID:28492532 PMID:30820351
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