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GENE - TERM ANNOTATION REPORT

RGD ID: 1321625
Species: Homo sapiens
RGD Object: Gene
Symbol: MKRN2
Name: makorin ring finger protein 2
Acc ID: DOID:0080690
Term: RASopathy
Definition: A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/RASopathy "DO" "DO", https://www.nature.com/articles/jhg2015114 "DO" "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ "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)
MKRN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: RASopathyPMID:28492532
MKRN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: RASopathyPMID:24033266 PMID:25741868 PMID:28492532
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