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: 620165
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fgf14
Name: fibroblast growth factor 14
Acc ID: DOID:0050976
Term: spinocerebellar ataxia type 27
Definition: An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27 "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)
Fgf14 ISOFGF14 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:26089778
Fgf14 ISOFGF14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 27PMID:12489043 PMID:15470364 PMID:194719761 PMID:21681106 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30017992 PMID:5470364
Fgf14 ISSFgf14 (Mus musculus)13592920MouseDOOMIM:193003 
Go Back to source page   Continue to Ontology report