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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:11984
Term: hypertrophic cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy "DO" "DO", http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 "DO" "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "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: Hypertrophic cardiomyopathyPMID:24033266 PMID:25741868 PMID:28492532
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