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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GATA3 and nephrosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Van Esch H, etal., Nature 2000 Jul 27;406(6794):419-22.
  • 8 additional annotations were made from Van Esch H, etal., Nature 2000 Jul 27;406(6794):419-22.
  • 330 RGD objects have been annotated to nephrosis  (DOID:2527)
  • 14 papers in RGD have been used to annotate GATA3
  • Curation Notes: HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957


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