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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SNRPB and Scoliosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Tooley M, etal., Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12.
  • 5 additional annotations were made from Tooley M, etal., Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12.
  • 1136 RGD objects have been annotated to Scoliosis  (HP:0002650)
  • 9 papers in RGD have been used to annotate SNRPB
  • Curation Notes: DNA:missense mutations:CDS:multiple (human)


  • An association has been curated linking SNRPB and Scoliosis 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
  • 1136 RGD objects have been annotated to Scoliosis  (HP:0002650)
  • 9 papers in RGD have been used to annotate SNRPB
  • Original References(s): OMIM:117650


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