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

GENE - TERM ANNOTATION REPORT

RGD ID: 1352344
Species: Homo sapiens
RGD Object: Gene
Symbol: CNGB3
Name: cyclic nucleotide gated channel subunit beta 3
Acc ID: DOID:0110008
Term: achromatopsia 3
Definition: An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10888875 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17265047 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CNGB3 IAGP 7240710OMIM  
CNGB3 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:16199547 PMID:25616768 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15459792 PMID:15657609 PMID:15712225 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15459792 PMID:15657609 PMID:17576681 PMID:19592100 PMID:20079539 PMID:20574029 PMID:28492532 PMID:28795510 PMID:9536098
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:16319819 PMID:25741868 PMID:28492532 PMID:28795510 PMID:30418171
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10958649 PMID:15657609 PMID:16319819 PMID:24148654 PMID:25741868 PMID:27479814 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:10958649 PMID:12187429 PMID:15657609 PMID:16199547 PMID:24148654 PMID:25741868 PMID:28492532 PMID:28795510 PMID:33546218
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:15712225 PMID:25741868 PMID:28492532
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopiaPMID:25741868 PMID:28492532
CNGB3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopiaPMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopiaPMID:25741868
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia 
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopiaPMID:28492532
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:28492532 PMID:28795510 PMID:33546218
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 PMID:20079539 PMID:25558176 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16199547 PMID:25558176 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25558076 PMID:25558176 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28492532 PMID:28795510 PMID:32581362
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:12357335 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16199547 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16199547 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28341476 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:17576681 PMID:25741868 PMID:28492532 PMID:28795510 PMID:9536098
CNGB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16319819 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16199547 PMID:28492532 PMID:28795510 PMID:30337596
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28492532 PMID:28795510 PMID:35119454
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:16379026 PMID:23805033 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:28492532 PMID:28795510 PMID:30718709
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:25205868 PMID:25616768 PMID:26106334 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10958649 PMID:28492532 PMID:28795510 PMID:32531858
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:27479814 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28041643 PMID:28492532 PMID:28795510 PMID:29053603
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:17576681 PMID:28041643 PMID:28492532 PMID:28795510 PMID:9536098
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:28492532 PMID:28795510 PMID:35119454
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:17576681 PMID:27479814 PMID:28492532 PMID:28795510 PMID:35672425 PMID:9536098
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15657609 PMID:16199547 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:28041643 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15712225 PMID:1572225 PMID:25741868 PMID:26106334
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15712225 PMID:26106334 PMID:28005958 PMID:28224992 PMID:28492532
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:22264887 PMID:28492532
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:23776498 PMID:26992781 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:15223812 PMID:28492532
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25616768 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10888875 PMID:25741868 PMID:28492532 PMID:31544997 PMID:34703197
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:30544257
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:15712225 PMID:28492532
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:15223812 PMID:25741868
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:28492532 PMID:28795510 PMID:31456290 PMID:32869108
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:14757870 PMID:16379026 PMID:23805033 PMID:24148654 PMID:25741868 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:25741868 PMID:26992781 PMID:28492532 PMID:32913385
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10888875 PMID:10958649 PMID:12815043 PMID:15223812 PMID:15657609 PMID:28492532 PMID:28795510
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia 3PMID:10958649 PMID:15657609 PMID:25205868 PMID:25525159 PMID:25741868 PMID:27874104 PMID:28492532 PMID:28795510 PMID:29186038
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:15712225 PMID:25474149 PMID:25741868 PMID:26106334 PMID:28492532 PMID:28795510 PMID:31544997 PMID:32913385 PMID:35672425
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:10888875 PMID:10958649 PMID:12815043 PMID:1347967 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:15161866 PMID:16379026 PMID:22975760 PMID:22995991 PMID:24504161 PMID:25741868 PMID:28418496 PMID:28492532 PMID:28795510 PMID:30418171 PMID:32869108
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Total colorblindness with myopiaPMID:23776498 PMID:25741868 PMID:28492532
CNGB3 ISSCngb3 (Mus musculus)13592920MouseDOOMIM:262300 
Go Back to source page   Continue to Ontology report