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

2 Annotations Found.

An association has been curated linking SLC2A1 and GLUT1 Deficiency Syndrome in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SLC2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to GLUT1 Deficiency Syndrome  (DOID:9007802)
  • 0 papers in RGD have been used to annotate SLC2A1
  • Qualifier: susceptibility


    • An association has been curated linking SLC2A1 and GLUT1 Deficiency Syndrome in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SLC2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to GLUT1 Deficiency Syndrome  (DOID:9007802)
  • 0 papers in RGD have been used to annotate SLC2A1
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar Annotator: match by term: Glucose transport defect, blood-brain barrier | ClinVar Annotator: match by term: Glucose transporter protein syndrome | ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
  • Original References(s): PMID:10227690 PMID:10980529 PMID:11076005 PMID:11477212 PMID:11603379 PMID:12325075 PMID:15622525 PMID:16172126 PMID:16199547 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17576681 PMID:17718830 PMID:18387950 PMID:18403583 PMID:18414213 PMID:18451999 PMID:18577546 PMID:18606970 PMID:18614966 PMID:19237265 PMID:19630075 PMID:19798636 PMID:19996082 PMID:20129935 PMID:20221955 PMID:20301603 PMID:20417043 PMID:20574033 PMID:20621801 PMID:20630673 PMID:20687207 PMID:20830593 PMID:21069159 PMID:21135204 PMID:21204808 PMID:21530357 PMID:21546317 PMID:21555602 PMID:21649651 PMID:21832227 PMID:21865127 PMID:21937992 PMID:22011817 PMID:22282645 PMID:22622956 PMID:22704013 PMID:22814174 PMID:22976442 PMID:23020937 PMID:23106342 PMID:23280796 PMID:23306390 PMID:23340081 PMID:2344855 PMID:23448551 PMID:23740044 PMID:23801573 PMID:24080273 PMID:24215330 PMID:24824604 PMID:24847886 PMID:24892788 PMID:25022942 PMID:25099510 PMID:25108116 PMID:25167861 PMID:25326635 PMID:25381171 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26216499 PMID:26267703 PMID:26467025 PMID:26537434 PMID:26598494 PMID:26615598 PMID:26982753 PMID:27250207 PMID:27351150 PMID:27927575 PMID:28018440 PMID:28074849 PMID:28102150 PMID:28116237 PMID:28135719 PMID:28378819 PMID:28443597 PMID:28492532 PMID:28554332 PMID:28556183 PMID:28717674 PMID:28961260 PMID:28971506 PMID:29303961 PMID:29356177 PMID:29530121 PMID:29655203 PMID:29778030 PMID:29930392 PMID:29961769 PMID:30076047 PMID:30115503 PMID:30197081 PMID:30198221 PMID:30271476 PMID:30588498 PMID:30895386 PMID:31069529 PMID:31196579 PMID:31273778 PMID:31302675 PMID:31487502 PMID:31737037 PMID:32802945 PMID:33015236 PMID:33258288 PMID:33860439 PMID:34279792 PMID:34305802 PMID:34568804 PMID:35586607 PMID:36362347 PMID:9335548 PMID:9536098


    • Go Back to source page   Continue to Ontology report