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

12 Annotations Found.

An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8605142 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:24033266 PMID:24793577 PMID:25741868 PMID:26621581 PMID:28492532 PMID:28659821 PMID:29357934


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13437064 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:24033266 PMID:26621581


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565639 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:10633129 PMID:11992479 PMID:17418587 PMID:17627385 PMID:17657824 PMID:21895641 PMID:23577066 PMID:24033266 PMID:24941995 PMID:25326635 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26787436 PMID:26875674 PMID:27959697 PMID:28492532 PMID:31211626 PMID:32123317 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8605200 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17627385 PMID:17657824 PMID:19161152 PMID:19293843 PMID:23506379 PMID:24033266 PMID:24941995 PMID:25637381 PMID:25741868 PMID:25812041 PMID:26621581 PMID:26787436 PMID:27153395 PMID:27582083 PMID:28492532 PMID:28655553 PMID:9399842


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8602845 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1
  • Original References(s): PMID:20082464 PMID:21542060 PMID:24033266 PMID:24793577 PMID:25907466 PMID:26621581 PMID:28492532 PMID:30371227 PMID:35058154


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14393141 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:19293843 PMID:26621581


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9687232 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:11933199 PMID:25741868 PMID:26621581 PMID:28492532 PMID:29543232 PMID:31227806


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14393143 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:26621581 PMID:28492532


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14393140 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Annuloaortic ectasia
  • Original References(s): PMID:26621581 PMID:31506931


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14393142 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Annuloaortic ectasia
  • Original References(s): PMID:25741868 PMID:26621581


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11544729|RGD:14393144|RGD:14393145 (Homo sapiens) & RGD:11544729|RGD:14393144|RGD:14393145 (Homo sapiens) & RGD:11544729|RGD:14393144|RGD:14393145 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:25741868 PMID:26621581 PMID:28492532


    • An association has been curated linking FBN1 and Familial Thoracic Aortic Aneurysm 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10055162 (Homo sapiens)
  • 13 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 61 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:11826022 PMID:17627385 PMID:17657824 PMID:18435798 PMID:19293843 PMID:19618372 PMID:19863550 PMID:25101912 PMID:25741868 PMID:26272055 PMID:26621581 PMID:27112580 PMID:28492532 PMID:29357934


    • Go Back to source page   Continue to Ontology report