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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking POMGNT1 and muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Biancheri R, etal., Arch Neurol. 2006 Oct;63(10):1491-5.
  • 5 additional annotations were made from Biancheri R, etal., Arch Neurol. 2006 Oct;63(10):1491-5.
  • 297 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 12 papers in RGD have been used to annotate POMGNT1
  • Curation Notes: DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human)

  • This annotation was curated on 2018-05-19 09:00:25.0 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.