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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col17a1 and Junctional Epidermolysis Bullosa 4, Intermediate in Ictidomys tridecemlineatus.        

  • 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 COL17A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 0 papers in RGD have been used to annotate Col17a1


    • An association has been curated linking Col17a1 and Junctional Epidermolysis Bullosa 4, Intermediate 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 COL17A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Junctional Epidermolysis Bullosa 4, Intermediate  (DOID:9000413)
  • 0 papers in RGD have been used to annotate Col17a1
  • Curation Notes: ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
  • Original References(s): PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11851893 PMID:16199547 PMID:16354180 PMID:16473856 PMID:17344927 PMID:17576681 PMID:19340010 PMID:20301304 PMID:21357940 PMID:21466533 PMID:23550562 PMID:24005051 PMID:24319098 PMID:24668667 PMID:25741868 PMID:26604146 PMID:28492532 PMID:33274474 PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9536098 PMID:9583744 PMID:9740252


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