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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Col7a1 and Pretibial Epidermolysis Bullosa 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1


  • An association has been curated linking Col7a1 and Pretibial 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by OMIM:131850
  • Original References(s): PMID:8541842


  • An association has been curated linking Col7a1 and Pretibial 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
  • Original References(s): PMID:12485454


  • An association has been curated linking Col7a1 and Pretibial 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
  • Original References(s): PMID:10583163, PMID:9215684


  • An association has been curated linking Col7a1 and Pretibial 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
  • 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 Pretibial 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]
  • 1 CRRD objects have been annotated to Pretibial Epidermolysis Bullosa  (DOID:9001453)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
  • Original References(s): PMID:24794830, PMID:25741868, PMID:28830826, PMID:7861014, PMID:9892921


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