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 Egr2 and Charcot-Marie-Tooth disease type 1D in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with EGR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 1D  (DOID:0110150)
  • 22 papers in RGD have been used to annotate Egr2


    • An association has been curated linking Egr2 and Charcot-Marie-Tooth disease type 1D in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with EGR2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 1D  (DOID:0110150)
  • 22 papers in RGD have been used to annotate Egr2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Egr2 and Charcot-Marie-Tooth disease type 1D 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 EGR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 1D  (DOID:0110150)
  • 22 papers in RGD have been used to annotate Egr2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d | ClinVar Annotator: match by term: HMSN 1D
  • Original References(s): PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:11734543 PMID:12471219 PMID:12525712 PMID:12609493 PMID:12736090 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20301384 PMID:20301641 PMID:20513111 PMID:21149811 PMID:22271166 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26204789 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27422849 PMID:28492532 PMID:30481651 PMID:30843326 PMID:31673878 PMID:31919945 PMID:32337334 PMID:32376792 PMID:32896048 PMID:9537424


    • Go Back to source page   Continue to Ontology report