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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ESR1 and Abnormality of the vertebral column in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Allcroft LC, etal., Calcif Tissue Int. 2002 Nov;71(5):400-5. Epub 2002 Aug 19.
  • 3 additional annotations were made from Allcroft LC, etal., Calcif Tissue Int. 2002 Nov;71(5):400-5. Epub 2002 Aug 19.
  • 1594 RGD objects have been annotated to Abnormality of the vertebral column  (HP:0000925)
  • 103 papers in RGD have been used to annotate ESR1
  • Qualifier: no_association
  • Curation Notes: DNA:mutation, SNP:intron, exon: , 274G>C


    • An association has been curated linking ESR1 and Abnormality of the vertebral column in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Colin EM, etal., J Clin Endocrinol Metab. 2003 Aug;88(8):3777-84.
  • 8 additional annotations were made from Colin EM, etal., J Clin Endocrinol Metab. 2003 Aug;88(8):3777-84.
  • 1594 RGD objects have been annotated to Abnormality of the vertebral column  (HP:0000925)
  • 103 papers in RGD have been used to annotate ESR1
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G


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