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GENE - TERM ANNOTATION REPORT

RGD ID: 731747
Species: Mus musculus
RGD Object: Gene
Symbol: Ptpn11
Name: protein tyrosine phosphatase, non-receptor type 11
Acc ID: DOID:0080798
Term: myeloid leukemia associated with Down Syndrome
Definition: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)
Definition Source(s): PMID:26910243 "DO" "DO", PMID:31606922 "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)
Ptpn11 ISOPTPN11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndromePMID:15384080 PMID:16358218 PMID:16804314 PMID:17020470 PMID:24803665 PMID:25741868 PMID:27993330 PMID:28492532 PMID:32786180
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