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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

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

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Nishiyama U, etal., J Thromb Haemost. 2005 Feb;3(2):355-60.
  • 2 additional annotations were made from Nishiyama U, etal., J Thromb Haemost. 2005 Feb;3(2):355-60.
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: protein:decreased expression:blood, platelet (rat)


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Alexander WS, etal., Blood. 1996 Mar 15;87(6):2162-70.
  • The annotation has been inferred from sequence orthology with Mpl (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Alexander WS, etal., Blood. 1996 Mar 15;87(6):2162-70.
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kuwana M, etal., Arthritis Rheum. 2002 Aug;46(8):2148-59.
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from Kuwana M, etal., Arthritis Rheum. 2002 Aug;46(8):2148-59.
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: associated with Lupus Erythematosus, Systemic


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ihara K, etal., Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3132-6.
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ihara K, etal., Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3132-6.
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sano Y, etal., Digestion. 2020 Aug 25:1-9. doi: 10.1159/000509852.
  • The annotation has been inferred from sequence orthology with MPL (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Sano Y, etal., Digestion. 2020 Aug 25:1-9. doi: 10.1159/000509852.
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl
  • Qualifier: ameliorates
  • Curation Notes: associated with End Stage Liver Disease


    • An association has been curated linking Mpl and thrombocytopenia 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]
  • 327 RGD objects have been annotated to thrombocytopenia  (DOID:1588)
  • 25 papers in RGD have been used to annotate Mpl
  • Curation Notes: ClinVar Annotator: match by term: Thrombocytopenia
  • Original References(s): PMID:10971406 PMID:11133753 PMID:11972523 PMID:16199547 PMID:16470591 PMID:18240171 PMID:18422784 PMID:19302922 PMID:21225925 PMID:21489838 PMID:21659346 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:28492532 PMID:28859041 PMID:31064749 PMID:32581362 PMID:8073287 PMID:971406


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