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GENE - TERM ANNOTATION REPORT

RGD ID: 18931090
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Cbl
Name: Cbl proto-oncogene
Acc ID: DOID:0060578
Term: Noonan syndrome 1
Definition: A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18203203 "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)
Cbl ISOCBL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Noonan syndrome 1PMID:20543203 PMID:20694012 PMID:25283271 PMID:25741868 PMID:25952305 PMID:28343148 PMID:28414188 PMID:28492532
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