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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 7
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Accession:DOID:9006750 term browser browse the term
Synonyms:exact_synonym: AAT7;   AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
 primary_id: OMIM:613780


show annotations for term's descendants           Sort by:
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G LOC126806791 MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 IAGP ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7		 ClinVar PMID:16199547 PMID:21055718 PMID:24033266 PMID:25741868 PMID:26017485 More... NCBI chr 3:123,629,024...123,630,223 JBrowse link
G LOC126806792 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7		 ClinVar PMID:9536098 PMID:17576681 PMID:21055718 PMID:25741868 PMID:28492532 NCBI chr 3:123,792,492...123,793,691 JBrowse link
G LOC129937401 ATAC-STARR-seq lymphoblastoid silent region 14650 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:25741868 NCBI chr 3:123,884,212...123,884,371 JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP
EXP		 ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More... NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYLK-AS1 MYLK antisense RNA 1 IAGP ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21055718 PMID:24033266 More... NCBI chr 3:123,585,513...123,630,821
Ensembl chr 3:123,585,143...123,644,568 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      cardiovascular system disease 6078
        vascular disease 3863
          Aneurysm 327
            aortic aneurysm 291
              thoracic aortic aneurysm 187
                Familial Thoracic Aortic Aneurysm 7 18
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      cardiovascular system disease 6078
        vascular disease 3863
          artery disease 2586
            aortic disease 1077
              aortic aneurysm 291
                thoracic aortic aneurysm 187
                  Familial Thoracic Aortic Aneurysm 7 18
paths to the root