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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL4A5 and proteinuria in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Namba M, etal., Sci Rep. 2021 Oct 21;11(1):20836. doi: 10.1038/s41598-021-00354-y.
  • The annotation has been inferred from sequence orthology with Col4a5 (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 38 additional annotations were made from Namba M, etal., Sci Rep. 2021 Oct 21;11(1):20836. doi: 10.1038/s41598-021-00354-y.
  • 643 RGD objects have been annotated to proteinuria  (DOID:576)
  • 9 papers in RGD have been used to annotate COL4A5
  • Qualifier: onset


    • An association has been curated linking COL4A5 and proteinuria in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13612394|RGD:13612407 (Homo sapiens) & RGD:13612394|RGD:13612407 (Homo sapiens)
  • 643 RGD objects have been annotated to proteinuria  (DOID:576)
  • 9 papers in RGD have been used to annotate COL4A5
  • Curation Notes: ClinVar Annotator: match by term: Proteinuria
  • Original References(s): PMID:25741868


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