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GENE - TERM ANNOTATION REPORT

RGD ID: 1322330
Species: Homo sapiens
RGD Object: Gene
Symbol: MPL
Name: MPL proto-oncogene, thrombopoietin receptor
Acc ID: DOID:2224
Term: essential thrombocythemia
Definition: A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. (DO)
Definition Source(s): http://www.webmd.com/a-to-z-guides/thrombocythemia-essential "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)
MPL IAGP 10449014RGDDNA:missense mutation:cds:pS505N (human) 
MPL IEP 10449016RGDmRNA, protein:decreased expression:blood, platelet (human) 
MPL IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1PMID:25741868 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:19036112 PMID:25538044 PMID:25741868 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:15531462 PMID:28492532
MPL IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1 
MPL IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:15531462 PMID:25741868 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:25741868 PMID:27069254 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:17054430 PMID:24438083 PMID:28492532 PMID:28697167 PMID:35776903
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:25741868
MPL IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:11133753 PMID:25741868 PMID:28492532 PMID:8073287
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:11133753 PMID:16470591 PMID:17666371 PMID:25741868 PMID:28492532 PMID:8073287
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:10971406 PMID:11071383 PMID:18422784 PMID:28492532 PMID:35776903
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:16470591 PMID:18090929 PMID:20188141 PMID:24438083 PMID:25741868 PMID:26316487 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:15269348 PMID:18451306 PMID:24728327 PMID:27069254 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:23970983 PMID:25741868
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocythemia 1PMID:24728327 PMID:25741868 PMID:27069254 PMID:28492532
MPL IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1PMID:24728327 PMID:25741868 PMID:28492532
MPL IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Essential thrombocythemiaPMID:11133753 PMID:16199547 PMID:16470591 PMID:21489838 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31064749 PMID:8073287
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