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

4 Annotations Found.

An association has been curated linking Cubn and Imerslund-Grasbeck Syndrome 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Aminoff M, etal., Nat Genet 1999 Mar;21(3):309-13.
  • The annotation has been inferred from sequence orthology with CUBN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Aminoff M, etal., Nat Genet 1999 Mar;21(3):309-13.
  • 4 RGD objects have been annotated to Imerslund-Grasbeck Syndrome 1  (DOID:9006481)
  • 12 papers in RGD have been used to annotate Cubn
  • Curation Notes: DNA:missense mutation:cds:p.P1297L (human)


    • An association has been curated linking Cubn and Imerslund-Grasbeck Syndrome 1 in Mus musculus.        

  • 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 CUBN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Imerslund-Grasbeck Syndrome 1  (DOID:9006481)
  • 12 papers in RGD have been used to annotate Cubn


    • An association has been curated linking Cubn and Imerslund-Grasbeck Syndrome 1 in Mus musculus.        

  • 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 CUBN (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Imerslund-Grasbeck Syndrome 1  (DOID:9006481)
  • 12 papers in RGD have been used to annotate Cubn
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Cubn and Imerslund-Grasbeck Syndrome 1 in Mus musculus.        

  • 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 CUBN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Imerslund-Grasbeck Syndrome 1  (DOID:9006481)
  • 12 papers in RGD have been used to annotate Cubn
  • Curation Notes: ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
  • Original References(s): PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:28492532 PMID:29801666 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:9536098


    • Go Back to source page   Continue to Ontology report