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1 Annotations Found.

An association has been curated linking Col7a1 and epidermolytic hyperkeratosis in Mus musculus.        

  • 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]
  • 7 RGD objects have been annotated to epidermolytic hyperkeratosis  (DOID:4603)
  • 9 papers in RGD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolytic hyperkeratosis

  • This annotation was curated on 2019-11-05 08:09:25.0 by RGD . For more information contact us

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