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   new 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

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ryr2 and familial hypertrophic cardiomyopathy 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 RYR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 135 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 34 papers in RGD have been used to annotate Ryr2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25041964 PMID:25163546 PMID:25650408 PMID:25741868 PMID:25925909 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27756708 PMID:27930701 PMID:28341588 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29350269 PMID:29477366 PMID:30847666 PMID:32152366 PMID:33552729 PMID:33829027 PMID:35026164


    • An association has been curated linking Ryr2 and familial hypertrophic cardiomyopathy 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 RYR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 135 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 34 papers in RGD have been used to annotate Ryr2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:19216760 PMID:19926015 PMID:20132818 PMID:23861362 PMID:24033266 PMID:25041964 PMID:25163546 PMID:25650408 PMID:25741868 PMID:25925909 PMID:26656175 PMID:27054166 PMID:27930701 PMID:28341588 PMID:28404607 PMID:28492532 PMID:29032884 PMID:30847666 PMID:32152366


    • An association has been curated linking Ryr2 and familial hypertrophic cardiomyopathy 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 RYR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 135 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 34 papers in RGD have been used to annotate Ryr2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25041964 PMID:25163546 PMID:25650408 PMID:25741868 PMID:25925909 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27756708 PMID:27930701 PMID:28341588 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29350269 PMID:29477366 PMID:30847666 PMID:32152366 PMID:35026164


    • Go Back to source page   Continue to Ontology report