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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Krt1 and epidermolytic hyperkeratosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with KRT1 (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to epidermolytic hyperkeratosis  (DOID:4603)
  • 9 papers in RGD have been used to annotate Krt1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Krt1 and epidermolytic hyperkeratosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sprecher E, etal., J Invest Dermatol. 2001 Apr;116(4):511-9.
  • The annotation has been inferred from sequence orthology with KRT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sprecher E, etal., J Invest Dermatol. 2001 Apr;116(4):511-9.
  • 7 RGD objects have been annotated to epidermolytic hyperkeratosis  (DOID:4603)
  • 9 papers in RGD have been used to annotate Krt1
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutation: ; 5191/5192GG>A


    • An association has been curated linking Krt1 and epidermolytic hyperkeratosis 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 Krt1 (Mus musculus) [(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 Krt1


    • An association has been curated linking Krt1 and epidermolytic hyperkeratosis 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 KRT1 (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 Krt1
  • Curation Notes: ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
  • Original References(s): PMID:12406348 PMID:12648226 PMID:1284546 PMID:1380725 PMID:1381288 PMID:25741868 PMID:26581228 PMID:28492532 PMID:30288772 PMID:33363884


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