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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:14696125 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:24814191 PMID:25803036


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:14396334 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:10636730 PMID:11406649 PMID:14614394 PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15160949|RGD:28897537 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:12907307 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:25741868 PMID:28492532 PMID:9583744


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:11601375|RGD:11611289 (Homo sapiens) & RGD:11601375|RGD:11611289 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:28902410 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:24668667 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:15198790|RGD:28909173 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 1A, Intermediate 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:11605927 (Homo sapiens)
  • 3 RGD objects have been annotated to Junctional Epidermolysis Bullosa 1A, Intermediate  (DOID:9000850)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE
  • Original References(s): PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532


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