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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking COL4A5 and Hematuria 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 (Homo sapiens)
  • 19 RGD objects have been annotated to Hematuria  (DOID:9000363)
  • 9 papers in RGD have been used to annotate COL4A5
  • Curation Notes: ClinVar Annotator: match by term: Hematuria
  • Original References(s): PMID:25741868


    • An association has been curated linking COL4A5 and Hematuria 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:8567227 (Homo sapiens)
  • 19 RGD objects have been annotated to Hematuria  (DOID:9000363)
  • 9 papers in RGD have been used to annotate COL4A5
  • Curation Notes: ClinVar Annotator: match by term: Hematuria
  • Original References(s): PMID:30311386


    • An association has been curated linking COL4A5 and Hematuria 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.
  • 19 RGD objects have been annotated to Hematuria  (DOID:9000363)
  • 9 papers in RGD have been used to annotate COL4A5
  • Qualifier: onset


    • An association has been curated linking COL4A5 and Hematuria 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:8561701 (Homo sapiens)
  • 19 RGD objects have been annotated to Hematuria  (DOID:9000363)
  • 9 papers in RGD have been used to annotate COL4A5
  • Curation Notes: ClinVar Annotator: match by term: Hematuria
  • Original References(s): PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 PMID:14604828 PMID:18083113 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:21505094 PMID:21848006 PMID:24046192 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:29144512 PMID:29526710 PMID:31027891 PMID:9150741


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