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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Chkb and megaconial type congenital muscular dystrophy 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 CHKB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to megaconial type congenital muscular dystrophy  (DOID:0110632)
  • 18 papers in RGD have been used to annotate Chkb


    • An association has been curated linking Chkb and megaconial type congenital muscular dystrophy 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 CHKB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to megaconial type congenital muscular dystrophy  (DOID:0110632)
  • 18 papers in RGD have been used to annotate Chkb
  • Curation Notes: ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28005197 PMID:28492532 PMID:28902413 PMID:7767093 PMID:9427222 PMID:9536098


    • Go Back to source page   Continue to Ontology report