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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SNRPE and Alopecia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pasternack SM, etal., Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.
  • 3 additional annotations were made from Pasternack SM, etal., Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.
  • 258 RGD objects have been annotated to Alopecia  (HP:0001596)
  • 16 papers in RGD have been used to annotate SNRPE
  • Curation Notes: DNA:snp:cds:c.1A>G


    • An association has been curated linking SNRPE and Alopecia 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
  • 258 RGD objects have been annotated to Alopecia  (HP:0001596)
  • 16 papers in RGD have been used to annotate SNRPE
  • Original References(s): ORPHA:55654


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