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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mmp1 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 MMP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 134 papers in CRRD have been used to annotate Mmp1


  • An association has been curated linking Mmp1 and epidermolysis bullosa dystrophica in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Titeux M, etal., Hum Mutat. 2008 Feb;29(2):267-76.
  • The annotation has been inferred from sequence orthology with MMP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Titeux M, etal., Hum Mutat. 2008 Feb;29(2):267-76.
  • 5 CRRD objects have been annotated to epidermolysis bullosa dystrophica  (DOID:4959)
  • 134 papers in CRRD have been used to annotate Mmp1
  • Qualifier: severity
  • Curation Notes: DNA:insertion:promoter:g.-1607_-1606insG (human)


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