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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL7A1 and Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant in Canis lupus familiaris.        

  • 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]
  • 1 RGD objects have been annotated to Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant  (DOID:9005879)
  • 0 papers in RGD have been used to annotate COL7A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
  • Original References(s): PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332


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