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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25741868 PMID:26188975 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:31517854 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:32736638 PMID:33161638 PMID:33834621 PMID:33974636 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:26188975 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31517854 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:33161638 PMID:33834621 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25741868 PMID:26188975 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31517854 PMID:31538843 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:32381727 PMID:32736638 PMID:33161638 PMID:33834621 PMID:33974636 PMID:34265140 PMID:35128800 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:20301422 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:28132693 PMID:28166811 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:31903434 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:31903434 PMID:33161638 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:31903434 PMID:33161638 PMID:9425231 PMID:9536098 PMID:9783710


    • An association has been curated linking COL5A2 and Ehlers-Danlos syndrome classic type 1 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL5A2
  • Curation Notes: ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25741868 PMID:26188975 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31517854 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:33161638 PMID:33834621 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710


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