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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking JAK2 and Myelofibrosis 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.
  • 14 RGD objects have been annotated to Myelofibrosis  (HP:0011974)
  • 111 papers in RGD have been used to annotate JAK2
  • Curation Notes: DNA:missense mutation:cds:p.V617F (human)


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 14 RGD objects have been annotated to Myelofibrosis  (HP:0011974)
  • 111 papers in RGD have been used to annotate JAK2
  • Original References(s): MIM:254450


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 14 RGD objects have been annotated to Myelofibrosis  (HP:0011974)
  • 111 papers in RGD have been used to annotate JAK2
  • Original References(s): ORPHA:3318


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 14 RGD objects have been annotated to Myelofibrosis  (HP:0011974)
  • 111 papers in RGD have been used to annotate JAK2
  • Original References(s): ORPHA:729


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