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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Col7a1 and epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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 epidermolysis bullosa with congenital localized absence of skin and deformity of nails  (DOID:0111347)
  • 10 papers in CRRD have been used to annotate Col7a1


  • An association has been curated linking Col7a1 and epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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 epidermolysis bullosa with congenital localized absence of skin and deformity of nails  (DOID:0111347)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
  • Original References(s): PMID:11843659


  • An association has been curated linking Col7a1 and epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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 epidermolysis bullosa with congenital localized absence of skin and deformity of nails  (DOID:0111347)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
  • Original References(s): PMID:19026465, PMID:20507384, PMID:26064063, PMID:3771648, PMID:5910871, PMID:8618021


  • An association has been curated linking Col7a1 and epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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 epidermolysis bullosa with congenital localized absence of skin and deformity of nails  (DOID:0111347)
  • 10 papers in CRRD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
  • 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


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