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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking LTBP2 and megalocornea in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Khan AO, etal., Mol Vis. 2011;17:2570-9. Epub 2011 Oct 4.
  • 3 additional annotations were made from Khan AO, etal., Mol Vis. 2011;17:2570-9. Epub 2011 Oct 4.
  • 2 RGD objects have been annotated to megalocornea  (DOID:0060305)
  • 23 papers in RGD have been used to annotate LTBP2
  • Curation Notes: associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human)


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