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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking COL7A1 and Skin erosion 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:12739049 (Homo sapiens)
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Curation Notes: ClinVar Annotator: match by term: Skin erosion
  • Original References(s): PMID:16971478 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:9881948


    • An association has been curated linking COL7A1 and Skin erosion 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
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Original References(s): ORPHA:231568


    • An association has been curated linking COL7A1 and Skin erosion 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
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Original References(s): ORPHA:89842


    • An association has been curated linking COL7A1 and Skin erosion 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
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Original References(s): ORPHA:79410


    • An association has been curated linking COL7A1 and Skin erosion 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
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Original References(s): ORPHA:79411


    • An association has been curated linking COL7A1 and Skin erosion 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:8601973 (Homo sapiens)
  • 29 RGD objects have been annotated to Skin erosion  (HP:0200041)
  • 7 papers in RGD have been used to annotate COL7A1
  • Curation Notes: ClinVar Annotator: match by term: Skin erosion
  • Original References(s): PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:35979658 PMID:8755915


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