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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking COL1A2 and heart valve disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Malfait F, etal., J Med Genet. 2006 Jul;43(7):e36.
  • 2 additional annotations were made from Malfait F, etal., J Med Genet. 2006 Jul;43(7):e36.
  • 351 RGD objects have been annotated to heart valve disease  (DOID:4079)
  • 26 papers in RGD have been used to annotate COL1A2

  • This annotation was curated on 2018-05-12 09:00:47.0 by RGD . For more information contact us

    An association has been curated linking COL1A2 and heart valve disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Schwarze U, etal., Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.
  • 5 additional annotations were made from Schwarze U, etal., Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.
  • 351 RGD objects have been annotated to heart valve disease  (DOID:4079)
  • 26 papers in RGD have been used to annotate COL1A2

  • This annotation was curated on 2018-05-12 09:01:03.0 by RGD . For more information contact us

    An association has been curated linking COL1A2 and heart valve disease 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
  • 351 RGD objects have been annotated to heart valve disease  (DOID:4079)
  • 26 papers in RGD have been used to annotate COL1A2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15077201

  • This annotation was curated on 2019-11-05 04:45:16.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.