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GENE - TERM ANNOTATION REPORT

21 Annotations Found.

An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Oderich GS, etal., J Vasc Surg. 2005 Jul;42(1):98-106.
  • 2 additional annotations were made from Oderich GS, etal., J Vasc Surg. 2005 Jul;42(1):98-106.
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: DNA:mutation


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pepin M, etal., N Engl J Med 2000 Mar 9;342(10):673-80.
  • 2 additional annotations were made from Pepin M, etal., N Engl J Med 2000 Mar 9;342(10):673-80.
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Smith LB, etal., Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.
  • The annotation has been inferred from sequence orthology with Col3a1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Smith LB, etal., Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: DNA:deletion:promoter, exons, introns


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Richards AJ, etal., Hum Genet. 1992 Jan;88(3):325-30.
  • 2 additional annotations were made from Richards AJ, etal., Hum Genet. 1992 Jan;88(3):325-30.
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: DNA:deletion:exon


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:38465823 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9686610 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048335 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:22001912 PMID:25741868 PMID:25776230 PMID:26332594 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8690608 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:19424605 PMID:22019127 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8690597 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:22019127 PMID:24036952 PMID:25741868 PMID:25944730 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8566096 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:2235526 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048781 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:22001912 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25834947 PMID:27888582 PMID:28492532 PMID:30115950


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9686607 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:21086191 PMID:21984974 PMID:24036952 PMID:24055113 PMID:25741868 PMID:25758994 PMID:25834947 PMID:26017485 PMID:26332594 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9686608 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8574476 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:25741868 PMID:9036918 PMID:9399899


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054825 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:22019127 PMID:24033266 PMID:25503501 PMID:25741868 PMID:26188975 PMID:28492532 PMID:8514866


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054841 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29192238 PMID:31141158


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127247782 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30837697


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens) & RGD:12839546|RGD:13489163|RGD:14689178|RGD:153347342|RGD:153347344|RGD:153347345|RGD:153347347|RGD:153347348|RGD:153347350|RGD:153347351|RGD:8574605 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:25741868


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens) & RGD:10054795|RGD:10054796|RGD:10054801|RGD:10054811|RGD:11544621|RGD:11545484|RGD:11546085|RGD:11551204|RGD:11580826|RGD:11582031|RGD:11582185|RGD:11597918|RGD:12842305|RGD:13498827|RGD:13540297|RGD:13618066|RGD:13618119|RGD:13618140|RGD:13704401|RGD:150551569|RGD:15148478|RGD:151710376|RGD:152094641|RGD:26899347|RGD:34893641|RGD:8569348|RGD:8690595|RGD:8690596|RGD:8690601|RGD:8690606 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking COL3A1 and Ehlers-Danlos syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054805|RGD:8569347 (Homo sapiens) & RGD:10054805|RGD:8569347 (Homo sapiens)
  • 297 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 33 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:18272325 PMID:25741868 PMID:28492532


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