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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Mpl and essential thrombocythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ding J, etal., Blood. 2004 Jun 1;103(11):4198-200. Epub 2004 Feb 5.
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Ding J, etal., Blood. 2004 Jun 1;103(11):4198-200. Epub 2004 Feb 5.
  • 23 RGD objects have been annotated to essential thrombocythemia  (DOID:2224)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: DNA:missense mutation:cds:pS505N (human)


    • An association has been curated linking Mpl and essential thrombocythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li J, etal., Br J Haematol. 2000 Dec;111(3):943-53.
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Li J, etal., Br J Haematol. 2000 Dec;111(3):943-53.
  • 23 RGD objects have been annotated to essential thrombocythemia  (DOID:2224)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: mRNA, protein:decreased expression:blood, platelet (human)


    • An association has been curated linking Mpl and essential thrombocythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to essential thrombocythemia  (DOID:2224)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
  • Original References(s): PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18090929 PMID:18422784 PMID:18451306 PMID:18528423 PMID:19036112 PMID:19483125 PMID:19608689 PMID:20151976 PMID:20188141 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:27069254 PMID:28492532 PMID:28697167 PMID:31064749 PMID:35776903 PMID:8073287


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