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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CHST14 and Joint hypermobility in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Janecke AR, etal., Am J Med Genet A. 2016 Jan;170(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.
  • 24 additional annotations were made from Janecke AR, etal., Am J Med Genet A. 2016 Jan;170(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.
  • 563 RGD objects have been annotated to Joint hypermobility  (HP:0001382)
  • 9 papers in RGD have been used to annotate CHST14
  • Curation Notes: DNA:frameshift mutations, missense mutations:CDS:multiple


    • An association has been curated linking CHST14 and Joint hypermobility 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
  • 563 RGD objects have been annotated to Joint hypermobility  (HP:0001382)
  • 9 papers in RGD have been used to annotate CHST14
  • Original References(s): MIM:601776


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