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: 621010
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Spata7
Name: spermatogenesis associated 7
Acc ID: DOID:0110331
Term: Leber congenital amaurosis 3
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19268277 "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)
Spata7 ISOSPATA7 (Homo sapiens)7240710OMIM  
Spata7 ISOSPATA7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Spata7 ISOSPATA7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onsetPMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 PMID:22136677 PMID:22334370 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25133751 PMID:25412400 PMID:25741868 PMID:26047050 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26854980 PMID:27208204 PMID:28481129 PMID:28492532 PMID:28714225 PMID:29186038 PMID:29411205 PMID:30054919 PMID:31908400 PMID:32865313 PMID:36909829 PMID:9536098
Spata7 ISSSpata7 (Mus musculus)13592920MouseDOOMIM:604232 
Go Back to source page   Continue to Ontology report