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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL7A1 and autosomal dominant dystrophic epidermolysis bullosa in Pan paniscus.        

  • 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 COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to autosomal dominant dystrophic epidermolysis bullosa  (DOID:0080224)
  • 0 papers in RGD have been used to annotate COL7A1


    • An association has been curated linking COL7A1 and autosomal dominant dystrophic epidermolysis bullosa in Pan paniscus.        

  • 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]
  • 3 RGD objects have been annotated to autosomal dominant dystrophic epidermolysis bullosa  (DOID:0080224)
  • 0 papers in RGD have been used to annotate COL7A1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
  • Original References(s): PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16271705 PMID:16484981 PMID:16557343 PMID:1680286 PMID:16965329 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24794830 PMID:24947307 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31709745 PMID:31930626 PMID:32860008 PMID:35979658 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8644729 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921


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