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Familial Thoracic Aortic Aneurysm 1 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Familial Thoracic Aortic Aneurysm 1
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Accession:DOID:9008615 term browser browse the term
Synonyms:exact_synonym: AAT1;   Annuloaortic Ectasia;   FAA1;   Familial Aortic Aneurysm;   Familial Aortic Dissection;   Familial Taad;   Familial Thoracic Aortic Aneurysm;   familial thoracic aortic aneurysm and dissection
 narrow_synonym: Erdheim cystic medial necrosis of aorta
 xref: MESH:C562834;   MIM:607086;   MONDO:0024559

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Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More... NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chrNW_004936474:28,211,144...28,212,963
Ensembl chrNW_004936474:28,211,313...28,212,272 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chrNW_004936575:2,526,067...2,533,996
Ensembl chrNW_004936575:2,524,342...2,533,559 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More... NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 PMID:36517271 NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:28492532 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chrNW_004936575:2,430,074...2,493,311
Ensembl chrNW_004936575:2,430,015...2,493,329 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      cardiovascular system disease 4264
        vascular disease 2917
          Aneurysm 233
            aortic aneurysm 201
              thoracic aortic aneurysm 108
                Familial Thoracic Aortic Aneurysm 1 13
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      cardiovascular system disease 4264
        vascular disease 2917
          artery disease 1899
            aortic disease 755
              aortic aneurysm 201
                thoracic aortic aneurysm 108
                  Familial Thoracic Aortic Aneurysm 1 13
paths to the root