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

2 Annotations Found.

An association has been curated linking Ryr1 and caudal regression 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to caudal regression syndrome  (DOID:0080700)
  • 38 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of sacrum
  • Original References(s): PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:18564 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 PMID:9497245


    • An association has been curated linking Ryr1 and caudal regression 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to caudal regression syndrome  (DOID:0080700)
  • 38 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of sacrum
  • Original References(s): PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:18564 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 PMID:9497245


    • Go Back to source page   Continue to Ontology report