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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:2785
Term: Dandy-Walker syndrome
Definition: A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. (DO)
Definition Source(s): http://omim.org/entry/220200 "DO" "DO", https://en.wikipedia.org/wiki/Dandy-Walker_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/dandy-walker-malformation "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: Dandy-Walker malformationPMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 PMID:4386970 PMID:5771505
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