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GENE - TERM ANNOTATION REPORT

RGD ID: 12258672
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MAPK1
Name: mitogen-activated protein kinase 1
Acc ID: DOID:0112161
Term: Noonan syndrome 13
Definition: A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32721402/ "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)
MAPK1 ISOMAPK1 (Homo sapiens)7240710OMIM  
MAPK1 ISOMAPK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Noonan syndrome 13PMID:25741868 PMID:28492532 PMID:32721402
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