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: 1562529
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Spg11
Name: SPG11 vesicle trafficking associated, spatacsin
Acc ID: DOID:0060197
Term: juvenile amyotrophic lateral sclerosis 5
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)
Definition Source(s): url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO" "DO", url:http://omim.org/entry/602099 "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)
Spg11 ISOSPG11 (Homo sapiens)7240710OMIM  
Spg11 ISOSPG11 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Spg11 ISOSPG11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18408091 PMID:18717728 PMID:18835492 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:20110243 PMID:20301389 PMID:20571989 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22696581 PMID:23221952 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24451228 PMID:24731568 PMID:24833714 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26467025 PMID:26556829 PMID:26742954 PMID:27016404 PMID:27066562 PMID:27071356 PMID:27084228 PMID:27180005 PMID:27217339 PMID:27790088 PMID:27900367 PMID:27957547 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28991695 PMID:29246610 PMID:29525178 PMID:29691679 PMID:29908077 PMID:29946510 PMID:29980238 PMID:30363882 PMID:30373780 PMID:31289639 PMID:31589614 PMID:31692161 PMID:32005694 PMID:32166880 PMID:32293029 PMID:32397312 PMID:32483926 PMID:32579787 PMID:32671691 PMID:32987860 PMID:32989326 PMID:33397523 PMID:33414559 PMID:33589474 PMID:33624863 PMID:34153142 PMID:35752680 PMID:36028943 PMID:9536098
Go Back to source page   Continue to Ontology report