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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL1A2 and Ehlers-Danlos syndrome arthrochalasia type 1 in Sus scrofa.        

  • 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 COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Ehlers-Danlos syndrome arthrochalasia type 1  (DOID:0080727)
  • 0 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
  • Original References(s): PMID:25441681 PMID:28492532


    • An association has been curated linking COL1A2 and Ehlers-Danlos syndrome arthrochalasia type 1 in Sus scrofa.        

  • 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 COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Ehlers-Danlos syndrome arthrochalasia type 1  (DOID:0080727)
  • 0 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1
  • Original References(s): PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:31414283 PMID:31794058 PMID:33110269 PMID:36896471 PMID:37079061 PMID:7695699 PMID:8218237 PMID:9016532


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