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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Krt1 and epidermolytic hyperkeratosis in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with KRT1 (Homo sapiens)
  • 7 RGD objects have been annotated to epidermolytic hyperkeratosis  (DOID:4603)
  • 0 papers in RGD have been used to annotate Krt1
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutation: ; 5191/5192GG>A
  • Original References(s): PMID:11286616 REF_RGD_ID:1600166


    • An association has been curated linking Krt1 and epidermolytic hyperkeratosis in Ictidomys tridecemlineatus.        

  • 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)
  • 0 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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