Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Col5a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bouma P, etal., J Biol Chem. 2001 Apr 20;276(16):13356-64. Epub 2001 Jan 19.
  • The annotation has been inferred from sequence orthology with COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bouma P, etal., J Biol Chem. 2001 Apr 20;276(16):13356-64. Epub 2001 Jan 19.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 17 papers in RGD have been used to annotate Col5a1


    • An association has been curated linking Col5a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Burrows NP, etal., J Invest Dermatol 1996 Jun;106(6):1273-6.
  • The annotation has been inferred from sequence orthology with COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 additional annotations were made from Burrows NP, etal., J Invest Dermatol 1996 Jun;106(6):1273-6.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 17 papers in RGD have been used to annotate Col5a1
  • Curation Notes: DNA:repeat:intron:IVS17 (human)


    • An association has been curated linking Col5a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Takahara K, etal., Am J Hum Genet. 2002 Sep;71(3):451-65. Epub 2002 Jul 17.
  • The annotation has been inferred from sequence orthology with COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Takahara K, etal., Am J Hum Genet. 2002 Sep;71(3):451-65. Epub 2002 Jul 17.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 17 papers in RGD have been used to annotate Col5a1


    • An association has been curated linking Col5a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wenstrup RJ, etal., Am J Hum Genet. 2000 Jun;66(6):1766-76. Epub 2000 Apr 24.
  • The annotation has been inferred from sequence orthology with COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wenstrup RJ, etal., Am J Hum Genet. 2000 Jun;66(6):1766-76. Epub 2000 Apr 24.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 17 papers in RGD have been used to annotate Col5a1


    • An association has been curated linking Col5a1 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 COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 17 papers in RGD have been used to annotate Col5a1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:16199547 PMID:16431952 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25122555 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28074886 PMID:28485813 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31829210 PMID:32508047 PMID:32938213 PMID:33206719 PMID:33737726 PMID:33914963 PMID:34150014 PMID:34265140 PMID:35128800 PMID:35396906 PMID:35723357 PMID:35982159 PMID:36973604 PMID:37427422


    • Go Back to source page   Continue to Ontology report