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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col5a2 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Michalickova K, etal., Hum Mol Genet 1998 Feb;7(2):249-55.
  • The annotation has been inferred from sequence orthology with COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Michalickova K, etal., Hum Mol Genet 1998 Feb;7(2):249-55.
  • 257 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 16 papers in RGD have been used to annotate Col5a2
  • Curation Notes: EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions


    • An association has been curated linking Col5a2 and Ehlers-Danlos syndrome 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 257 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 16 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:11940702 PMID:17576681 PMID:25741868 PMID:28132693 PMID:28492532 PMID:2855059 PMID:28550590 PMID:9536098


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