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

VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV28373 and Noonan syndrome with multiple lentigines 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
  • 22 RGD objects have been annotated to Noonan syndrome with multiple lentigines  (DOID:14291)
  • 1 papers in RGD have been used to annotate CV28373
  • Curation Notes: ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME
  • Original References(s): PMID:11992261 PMID:12161469 PMID:12717436 PMID:14644997 PMID:14676626 PMID:15009076 PMID:15240615 PMID:15385933 PMID:15539800 PMID:15723289 PMID:15725481 PMID:15834506 PMID:15842656 PMID:15928039 PMID:15948193 PMID:15987685 PMID:16115145 PMID:16358218 PMID:16377799 PMID:17020470 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17546245 PMID:17910045 PMID:17972951 PMID:18331608 PMID:18454468 PMID:19063751 PMID:20237506 PMID:20383758 PMID:23446178 PMID:23832011 PMID:24033266 PMID:24718990 PMID:25097206 PMID:25741868 PMID:26286251 PMID:28492532


    • Go Back to source page   Continue to Ontology report