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 ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory 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 COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:13528139 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868


    • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with COL12A1 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:13704773 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:14702674 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868


    • Go Back to source page   Continue to Ontology report