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) Synteny Browser (VCMap)  (beta) 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) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease 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

4 Annotations Found.

An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • The annotation has been inferred from sequence orthology with Bckdk (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 37 additional annotations were made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: DNA:missense mutation:cds:G369E (rat)


    • An association has been curated linking Bckdk and branched-chain keto acid dehydrogenase kinase deficiency in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 37 additional annotations were made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 13 papers in RGD have been used to annotate Bckdk
  • Curation Notes: DNA:missense mutation:cds:G369E (rat)


    • An association has been curated linking Bckdk and branched-chain keto acid dehydrogenase kinase deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • The annotation has been inferred from sequence orthology with Bckdk (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 37 additional annotations were made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 10 papers in RGD have been used to annotate Bckdk
  • Curation Notes: DNA:missense mutation:cds:G369E (rat)


    • An association has been curated linking SD-Bckdkm1Dbsa and branched-chain keto acid dehydrogenase kinase deficiency in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 37 additional annotations were made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 1 papers in RGD have been used to annotate SD-Bckdkm1Dbsa
  • Curation Notes: compared to NTac:SD


    • Go Back to source page   Continue to Ontology report