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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;   thoracic aortic aneurysm
 narrow_synonym: Erdheim cystic medial necrosis of aorta
 primary_id: MESH:C562834
 alt_id: OMIM:607086


show annotations for term's descendants           Sort by:
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 chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		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 chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		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 chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454 		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 chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		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 chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		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 chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		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 chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		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 chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        vascular disease 4012
          Aneurysm 250
            aortic aneurysm 215
              thoracic aortic aneurysm 115
                Familial Thoracic Aortic Aneurysm 1 11
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        vascular disease 4012
          artery disease 2825
            aortic disease 792
              aortic aneurysm 215
                thoracic aortic aneurysm 115
                  Familial Thoracic Aortic Aneurysm 1 11
paths to the root