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 Behavioral & Substance Use Disorder 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: 12303474
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: FGFR1
Name: fibroblast growth factor receptor 1
Acc ID: DOID:0111337
Term: Jackson-Weiss syndrome
Definition: A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)
Definition Source(s): PMID:1271196 "DO" "DO", PMID:7874170 "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)
FGFR1 ISOFGFR1 (Homo sapiens)7240710OMIM  
FGFR1 ISOFGFR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndromePMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:1456217 PMID:14564217 PMID:14613973 PMID:15793702 PMID:16199547 PMID:16764984 PMID:16957473 PMID:17003104 PMID:17154279 PMID:17530415 PMID:18034870 PMID:23643382 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:27363716 PMID:28492532 PMID:31200363 PMID:31605817 PMID:31837199 PMID:32724172 PMID:37805574 PMID:7795583 PMID:7874169
Go Back to source page   Continue to Ontology report