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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking POMGNT1 and Abnormal brain morphology 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.
  • 3025 RGD objects have been annotated to Abnormal brain morphology  (HP:0012443)
  • 12 papers in RGD have been used to annotate POMGNT1
  • Curation Notes: DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple


    • An association has been curated linking POMGNT1 and Abnormal brain morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Vervoort VS, etal., Ann Neurol. 2004 Jul;56(1):143-8.
  • 4 additional annotations were made from Vervoort VS, etal., Ann Neurol. 2004 Jul;56(1):143-8.
  • 3025 RGD objects have been annotated to Abnormal brain morphology  (HP:0012443)
  • 12 papers in RGD have been used to annotate POMGNT1
  • Curation Notes: DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T)


    • An association has been curated linking POMGNT1 and Abnormal brain morphology 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
  • 3025 RGD objects have been annotated to Abnormal brain morphology  (HP:0012443)
  • 12 papers in RGD have been used to annotate POMGNT1
  • Original References(s): ORPHA:370959


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