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

RGD ID: 18908333
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Rdh12
Name: retinol dehydrogenase 12
Acc ID: DOID:0110330
Term: Leber congenital amaurosis 13
Definition: A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15258582 "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)
Rdh12 ISORDH12 (Homo sapiens)7240710OMIM  
Rdh12 ISORDH12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20006610 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:21232531 PMID:21602930 PMID:22065924 PMID:23105016 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26868535 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27422788 PMID:27809489 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:2855908 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30029497 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:31630094 PMID:31801355 PMID:31814694 PMID:31816670 PMID:32014858 PMID:32037395 PMID:32141364 PMID:32322264 PMID:32790509 PMID:32865313 PMID:33090715 PMID:33970760 PMID:34001834 PMID:34448047 PMID:34567070 PMID:35006499 PMID:35119454 PMID:35672425 PMID:35994252 PMID:36284670 PMID:36460718 PMID:36690427 PMID:36909829 PMID:37217489 PMID:37714431 PMID:38219857 PMID:9536098
Go Back to source page   Continue to Ontology report