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GENE - TERM ANNOTATION REPORT

RGD ID: 8948702
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Map2k2
Name: mitogen-activated protein kinase kinase 2
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)
Map2k2 ISOMAP2K2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Noonan syndrome 1PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19376813 PMID:23885229 PMID:24033266 PMID:24719372 PMID:25741868 PMID:28492532 PMID:29493581
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