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 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
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ccbe1 and Hennekam Lymphangiectasia-Lymphedema Syndrome 1 in Heterocephalus glaber.        

  • 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 CCBE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Hennekam Lymphangiectasia-Lymphedema Syndrome 1  (DOID:9003821)
  • 0 papers in RGD have been used to annotate Ccbe1
  • Curation Notes: ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 PMID:9536098


    • An association has been curated linking Ccbe1 and Hennekam Lymphangiectasia-Lymphedema Syndrome 1 in Heterocephalus glaber.        

  • 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 CCBE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Hennekam Lymphangiectasia-Lymphedema Syndrome 1  (DOID:9003821)
  • 0 papers in RGD have been used to annotate Ccbe1


    • Go Back to source page   Continue to Ontology report