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GENE - TERM ANNOTATION REPORT

28 Annotations Found.

An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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|RGD:405687346 (Homo sapiens) & RGD:11601375|RGD:11611289|RGD:405687346 (Homo sapiens) & RGD:11601375|RGD:11611289|RGD:405687346 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:156270790 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:24814191 PMID:25803036


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens) & RGD:11633831|RGD:126752822|RGD:12894398|RGD:243049693|RGD:401799286|RGD:401905357|RGD:405706651|RGD:405709467|RGD:405855237|RGD:405866578|RGD:408394092 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:25741868


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens) & RGD:11603826|RGD:11605843|RGD:11609301|RGD:11610307|RGD:150335914|RGD:15116514|RGD:15198790|RGD:28909173|RGD:402503695|RGD:405009799|RGD:405031223|RGD:405044915|RGD:405045362|RGD:405046863|RGD:405119476|RGD:405204651|RGD:405220900|RGD:405240078|RGD:405253024 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, Intermediate in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8600667 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10398261 PMID:10577906 PMID:11851893 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 PMID:7550320 PMID:9199555 PMID:9740252


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566343 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10951237


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566339 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:7092249 PMID:8618019 PMID:9077475 PMID:9457914


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, 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 4, 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:8566342 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10577906


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566336 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10398261


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566341 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:9740252


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566338 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:9457913


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566334 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:7550320


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:14692984 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:16354180 PMID:19340010 PMID:9204958


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8600669 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:21466533 PMID:23550562 PMID:24005051 PMID:25741868 PMID:26604146 PMID:28492532 PMID:9199555


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:11610085 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:28492532 PMID:9077475


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:151857483 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10636730 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 4, 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)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:25741868 PMID:28492532 PMID:9583744


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566344 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10951237 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:13807088 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 PMID:33274474


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:8566335|RGD:8600668 (Homo sapiens) & RGD:8566335|RGD:8600668 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:9012408


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens) & RGD:11600977|RGD:11602923|RGD:11608000|RGD:11608043|RGD:11608164|RGD:11608478|RGD:11611183|RGD:15142559|RGD:15160949|RGD:28897537 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition
  • Original References(s): PMID:24668667 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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:155266976|RGD:156174737 (Homo sapiens) & RGD:155266976|RGD:156174737 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): 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 4, 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:13834061 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:28492532


    • An association has been curated linking COL17A1 and Junctional Epidermolysis Bullosa 4, 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|RGD:150536505 (Homo sapiens) & RGD:11605927|RGD:150536505 (Homo sapiens)
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 6 papers in RGD have been used to annotate COL17A1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532


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