Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

42 Annotations Found.

An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hilal L, etal., Nat Genet. 1993 Nov;5(3):287-93.
  • The annotation has been inferred from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hilal L, etal., Nat Genet. 1993 Nov;5(3):287-93.
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Qualifier: susceptibility
  • Curation Notes: DNA:insertion-deletion


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by OMIM:226600
  • Original References(s): PMID:10469344, PMID:7577595


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by OMIM:226600
  • Original References(s): PMID:11843659


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by OMIM:226600


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Hallopeau-Siemens Disease
  • Original References(s): PMID:25741868, PMID:9668111


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:12813757, PMID:16971478, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:17425959, PMID:20357813, PMID:21471992, PMID:24032424, PMID:24947307, PMID:25741868, PMID:26102279, PMID:26763448, PMID:28492532, PMID:7833933, PMID:9242516, PMID:9326325


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
  • Original References(s): PMID:16971478, PMID:21448560, PMID:24033266


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
  • Original References(s): PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386, PMID:8755915


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10084325, PMID:10504458, PMID:15888141, PMID:16271705, PMID:20184583, PMID:25741868, PMID:28492532, PMID:9326325, PMID:9740253


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:18951764, PMID:25741868, PMID:26076072, PMID:27153395, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:18565177


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:24279917, PMID:29130490


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:16500083


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:20585476, PMID:21448560


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:15550148, PMID:28853495


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:24831336


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:19681861, PMID:25525159, PMID:25741868


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:16971478


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:16439963, PMID:19681861, PMID:27899325


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:12653705, PMID:15816848, PMID:15888141, PMID:16484981, PMID:17916216, PMID:19439919, PMID:25155989, PMID:27544590, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:16971478, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
  • Original References(s): PMID:24033266


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:17916216, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:16484981, PMID:16971478, PMID:19814614, PMID:21448560, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:22070715


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:12813757


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:17501948, PMID:25741868


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:28492532, PMID:9804332


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:18440202, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:19681861


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:16484981, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:18951764, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:16971478, PMID:17425959, PMID:18414213, PMID:19026465, PMID:20507384, PMID:21448560, PMID:26064063, PMID:3771648


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:15816848, PMID:23237810, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:25819062, PMID:28492532


  • An association has been curated linking Col7a1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:10944088, PMID:18558993, PMID:21448560, PMID:24210835


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.