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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kralovics R, etal., N Engl J Med. 2005 Apr 28;352(17):1779-90.
  • 3 additional annotations were made from Kralovics R, etal., N Engl J Med. 2005 Apr 28;352(17):1779-90.
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:p.V617F (human)


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zerjavic K, etal., Thromb Res. 2013 Aug;132(2):e86-93. doi: 10.1016/j.thromres.2013.06.021. Epub 2013 Jul 9.
  • 15 additional annotations were made from Zerjavic K, etal., Thromb Res. 2013 Aug;132(2):e86-93. doi: 10.1016/j.thromres.2013.06.021. Epub 2013 Jul 9.
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: DNA:SNPs:introns: (rs12343867, rs10974944) (human)


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zerjavic K, etal., Thromb Res. 2013 Aug;132(2):e86-93. doi: 10.1016/j.thromres.2013.06.021. Epub 2013 Jul 9.
  • 15 additional annotations were made from Zerjavic K, etal., Thromb Res. 2013 Aug;132(2):e86-93. doi: 10.1016/j.thromres.2013.06.021. Epub 2013 Jul 9.
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Qualifier: no_association
  • Curation Notes: DNA:SNP:intron: (rs12342421) (human)


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12842966 (Homo sapiens)
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: ClinVar Annotator: match by term: Myeloproliferative disorder
  • Original References(s): PMID:20585391


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12842640 (Homo sapiens)
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: ClinVar Annotator: match by term: Myeloproliferative disorder
  • Original References(s): PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22087750 PMID:29047144 PMID:35568132


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12834363 (Homo sapiens)
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: ClinVar Annotator: match by term: Myeloproliferative disorder
  • Original References(s): PMID:17267906 PMID:25741868 PMID:28492532


    • An association has been curated linking JAK2 and myeloid neoplasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8564378 (Homo sapiens)
  • 359 RGD objects have been annotated to myeloid neoplasm  (DOID:0070004)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: ClinVar Annotator: match by term: Myeloproliferative disorder
  • Original References(s): PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362


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