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GENE - TERM ANNOTATION REPORT

37 Annotations Found.

An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
  • Original References(s): PMID:11843659


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:8513326


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:9740253


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10944088, PMID:16971478, PMID:17495952, PMID:25741868, PMID:8900535


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:9668111


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:11167698, PMID:19344236, PMID:21448560, PMID:22058051, PMID:25741868, PMID:27746867, PMID:28492532, PMID:7695699, PMID:8218237


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:12813757, PMID:16971478, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive 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 recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:28492532, PMID:9804332


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
  • Original References(s): PMID:12787275, PMID:22266148, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:28492532, PMID:29531004


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:19344236, PMID:22058051, PMID:28492532, PMID:7695699, PMID:8218237, PMID:8644729


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:30311386, PMID:8037207


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
  • Original References(s): PMID:10469344


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:19681861, PMID:25525159, PMID:25741868


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10583163, PMID:9215684


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:8088783


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:11843659, PMID:7883979


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:17501948, PMID:25741868


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:18030675, PMID:9326325


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10469344, PMID:7577595


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:25741868


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:7883979


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:8644729


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

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Col7a1 (Mus musculus) [(IEA) inferred from electronic annotation]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: OMIM:226600


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: RDEB, severe generalized
  • 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 recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:17916216, PMID:25741868, PMID:28492532


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:18558993, PMID:25741868


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive 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 recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:18951764, PMID:25741868, PMID:26076072, PMID:27153395, PMID:28492532


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:21448560, PMID:25741868, PMID:27899325, PMID:28492532, PMID:8037207


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:11000732, PMID:16971478, PMID:18951764, PMID:19643583, PMID:22266148, PMID:25741868, PMID:28492532, PMID:9326325


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:20920254, PMID:25741868, PMID:28492532, PMID:9326325


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:12485454, PMID:16271705, PMID:25741868, PMID:28492532, PMID:8755915


  • An association has been curated linking Col7a1 and recessive dystrophic epidermolysis bullosa 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]
  • 3 CRRD objects have been annotated to recessive dystrophic epidermolysis bullosa  (DOID:0060642)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
  • Original References(s): PMID:10504458, PMID:16971478, PMID:17425959, PMID:18414213, PMID:19026465, PMID:20507384, PMID:21448560, PMID:26064063, PMID:3771648


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