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)

VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV132799 and ataxia telangiectasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 119 RGD objects have been annotated to ataxia telangiectasia  (DOID:12704)
  • 1 papers in RGD have been used to annotate CV132799
  • Curation Notes: ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
  • Original References(s): PMID:11443540 PMID:11996792 PMID:12673804 PMID:14695997 PMID:16574953 PMID:16741161 PMID:17124347 PMID:17333338 PMID:18634022 PMID:19781682 PMID:20305132 PMID:21514219 PMID:21933854 PMID:22529920 PMID:23091097 PMID:24197801 PMID:24416720 PMID:24728327 PMID:25085752 PMID:25625042 PMID:25741868 PMID:26112015 PMID:26467025 PMID:27153395 PMID:28492532 PMID:28652578 PMID:30553997 PMID:33471991 PMID:9622061


    • Go Back to source page   Continue to Ontology report