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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:Aneurysm
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Accession:DOID:9001665 term browser browse the term
Definition:Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.
Synonyms:exact_synonym: Aneurysms;   Fusiform Aneurysm;   Fusiform Aneurysms;   Saccular Aneurysm
 primary_id: MESH:D000783
 xref: EFO:0009659

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show annotations for term's descendants           Sort by:
Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:snp:intron:IVS20+1G>A (human) RGD PMID:2349939 RGD:1300382 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:29979980 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:16385529 RGD:1582153 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Nox4 NADPH oxidase 4 ISO RGD PMID:19620512 RGD:2324659 NCBI chrNW_004955414:4,062,337...4,220,032
Ensembl chrNW_004955414:4,062,081...4,212,746 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:11567232 RGD:1581391 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22539767 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Ahcy adenosylhomocysteinase susceptibility ISO DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10841519 PMID:10848855 RGD:1578483 RGD:6903247 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Casp3 caspase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chrNW_004955435:7,352,617...7,545,235
Ensembl chrNW_004955435:7,352,617...7,545,235 		JBrowse link
G Csf2 colony stimulating factor 2 severity ISO mRNA:increased expression:aorta:
protein:decreased expression:serum (rat)		 RGD PMID:15010288 PMID:15238617 RGD:10450246 RGD:1302825 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312 		JBrowse link
G Dab2ip DAB2 interacting protein sexual_dimorphism ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs7025486 (human)
DNA:SNP:CDS:intron 1 (rs7025486) (human)
mRNA:increased expression:aorta (human)		 CTD
RGD		 PMID:20622881 PMID:28698188 PMID:31028191 RGD:401901599 RGD:401938604 RGD:401938619 NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402 		JBrowse link
G Ehf ETS homologous factor treatment ISO RGD PMID:14662712 RGD:1581123 NCBI chrNW_004955422:11,599,245...11,640,828
Ensembl chrNW_004955422:11,598,884...11,641,396 		JBrowse link
G Eln elastin treatment ISO RGD PMID:15944607 PMID:18585885 RGD:1580157 RGD:9585668 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		JBrowse link
G Ftl ferritin light chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955559:1,691,722...1,693,381 JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771 		JBrowse link
G Gatm glycine amidinotransferase ISO RGD PMID:22797469 RGD:329961302 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823 RGD:401827834 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823 RGD:401827834 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955559:1,674,969...1,690,098
Ensembl chrNW_004955559:1,674,969...1,690,098 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il1b interleukin 1 beta ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Itgam integrin subunit alpha M ameliorates ISO protein:increased expression:aorta (human) RGD PMID:33749307 RGD:329853751 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759 		JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chrNW_004955403:11,588,536...11,669,809
Ensembl chrNW_004955403:11,592,339...11,659,297 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:10965315 RGD:1581887 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16082623 PMID:16115023 RGD:1582355 RGD:1582356 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15156361 PMID:15944607 RGD:1580157 RGD:1582548 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11877705 PMID:15300177 PMID:19010778 RGD:1582579 RGD:1582584 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437 		JBrowse link
G Mmp2 matrix metallopeptidase 2 no_association
treatment		 ISO RGD PMID:11457749 PMID:15238617 PMID:15300177 PMID:16458924 PMID:20016209 More... RGD:1302825 RGD:13207313 RGD:1582579 RGD:1582585 RGD:1582621 RGD:2325698 RGD:8657104 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 RGD:1582641 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16432074 PMID:17196988 PMID:21256058 RGD:13207313 RGD:1582641 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891 		JBrowse link
G Nnmt nicotinamide N-methyltransferase susceptibility ISO DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955412:15,892,906...15,916,166 JBrowse link
G Nono non-POU domain containing octamer binding ameliorates ISO RGD PMID:31512366 RGD:155882451 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO mRNA:increased expression:abdominal aorta (human) RGD PMID:16311343 RGD:401827904 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:19028049 RGD:6480528 NCBI chrNW_004955448:2,442,368...2,488,567
Ensembl chrNW_004955448:2,442,368...2,488,567 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297 RGD:10041046 NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Sell selectin L ISO RGD PMID:15998669 RGD:5685707 NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846 		JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:20554458 RGD:4144856 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992 		JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17196988 RGD:1625699 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Sort1 sortilin 1 ISO DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chrNW_004955435:12,725,952...12,819,280
Ensembl chrNW_004955435:12,730,270...12,819,029 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211 		JBrowse link
G Tyms thymidylate synthetase susceptibility ISO DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631 		JBrowse link
aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925196 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:28492532 PMID:29689197 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO MouseDO NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.E161K (human) RGD
MouseDO		 PMID:22440127 RGD:42722009 NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605 		JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar Annotator: match by term: Ascending aortic dilation		 RGD
ClinVar		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:7365039 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G Klf15 KLF transcription factor 15 ISO MouseDO NCBI chrNW_004955421:21,609,709...21,618,920
Ensembl chrNW_004955421:21,609,643...21,620,255 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740 RGD:6483518 NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723 		JBrowse link
G Serpine1 serpin family E member 1 treatment ISO RGD PMID:9697825 RGD:8547863 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22772371 PMID:25741868 PMID:28492532 NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:16791849 PMID:17061023 PMID:18781618 PMID:24033266 PMID:24793577 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995 		JBrowse link
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
Aortic Rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chrNW_004955537:1,228,062...1,233,784
Ensembl chrNW_004955537:1,228,070...1,233,797 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chrNW_004955493:7,928,516...7,931,265 JBrowse link
Carotid Artery Dissection, Internal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
coronary aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum RGD PMID:22683371 RGD:8694456 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15548583 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO RGD PMID:12103254 RGD:1582363 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
Dissecting Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8757037 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chrNW_004955537:1,228,062...1,233,784
Ensembl chrNW_004955537:1,228,070...1,233,797 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772368 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027248 PMID:16885183 NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name Qualifiers 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_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		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_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		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_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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:30675029 More... NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		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:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		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_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		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_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		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:30675029 More... NCBI chrNW_004955521:105,565...160,906
Ensembl chrNW_004955521:104,918...159,724 		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_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related condition | ClinVar Annotator: match by term: LOX-related disorders OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related condition | ClinVar Annotator: match by term: LOX-related disorders ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955521:105,565...160,906
Ensembl chrNW_004955521:104,918...159,724 		JBrowse link
Familial Thoracic Aortic Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 OMIM
ClinVar		 PMID:25741868 PMID:32855533 NCBI chrNW_004955450:5,296,670...5,827,252
Ensembl chrNW_004955450:5,301,765...5,479,638 		JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More... NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chrNW_004955442:317,334...442,514
Ensembl chrNW_004955442:314,486...442,088 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chrNW_004955442:650,033...665,540
Ensembl chrNW_004955442:649,272...665,714 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chrNW_004955442:442,512...490,784
Ensembl chrNW_004955442:447,556...490,784 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chrNW_004955442:269,382...313,056
Ensembl chrNW_004955442:238,597...283,328 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus OMIM
ClinVar		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11249915 More... NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 More... NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,043,001...23,095,201
Ensembl chrNW_004955427:23,042,648...23,095,151 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chrNW_004955427:22,642,509...22,733,170
Ensembl chrNW_004955427:22,642,478...22,734,271 		JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:24,035,193...24,115,483 JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,851,475...23,952,211
Ensembl chrNW_004955427:23,850,261...23,939,950 		JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,184,751...23,823,128
Ensembl chrNW_004955427:23,184,739...23,816,811 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,979,080...24,001,627 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More... NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955420:24,215,433...24,279,033
Ensembl chrNW_004955420:24,215,737...24,279,033 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,104,178...23,140,559 JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:24,137,420...24,284,485
Ensembl chrNW_004955427:24,137,228...24,284,070 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:24,520,125...24,579,589
Ensembl chrNW_004955427:24,520,125...24,579,589 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chrNW_004955427:24,294,926...24,430,697
Ensembl chrNW_004955427:24,294,926...24,377,217 		JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstf2t cleavage stimulation factor subunit 2 tau variant ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:25640679 PMID:28492532 NCBI chrNW_004955425:6,830,775...6,834,799
Ensembl chrNW_004955425:6,832,580...6,834,499 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chrNW_004955425:7,353,964...7,357,599 JBrowse link
G Mbl2 mannose binding lectin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16646045 PMID:17576681 PMID:23910461 More... NCBI chrNW_004955425:6,176,335...7,335,867
Ensembl chrNW_004955425:6,176,432...7,331,446 		JBrowse link
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition OMIM
ClinVar		 PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 More... NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992 		JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Ccdc180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chrNW_004955419:28,002,063...28,066,145
Ensembl chrNW_004955419:28,002,011...28,066,373 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO protein:increased expression:common carotid artery plus branches (Rat) RGD PMID:33885814 RGD:329812012 NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302 		JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chrNW_004955461:12,596,449...12,870,853
Ensembl chrNW_004955461:12,597,488...12,848,410 		JBrowse link
G Cst3 cystatin C ISO mRNA:decreased expression:brain, artery
protein:decreased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctsb cathepsin B ISO mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
protein:increased expression:cerebral aneurysm (human)		 RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809 		JBrowse link
G Ctsk cathepsin K ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093 		JBrowse link
G Ctss cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955413:99,279...124,793
Ensembl chrNW_004955413:99,159...124,042 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Eng endoglin ISO DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E RGD PMID:10223461 PMID:19299629 RGD:1580964 RGD:329845530 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 More... NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Klf5 KLF transcription factor 5 ISO protein:increased expression:artery RGD PMID:30201338 RGD:155883158 NCBI chrNW_004955404:33,642,604...33,665,445
Ensembl chrNW_004955404:33,644,077...33,658,094 		JBrowse link
G Kmt2d lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:9724118 PMID:16961137 PMID:17569872 RGD:1582590 RGD:1582646 RGD:2290352 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility
treatment		 ISO protein:increased expression:artery
mRNA, protein:increased expression:artery
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental		 RGD PMID:9310982 PMID:16961137 PMID:17122420 PMID:17569872 PMID:21937941 More... RGD:13204853 RGD:13204858 RGD:155882593 RGD:1582646 RGD:1642055 RGD:2290352 RGD:8547935 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Myocd myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chrNW_004955467:4,653,065...4,743,438
Ensembl chrNW_004955467:4,656,380...4,743,110 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		JBrowse link
G Sox17 SRY-box transcription factor 17 no_association
susceptibility		 ISO protein:decreased expression:middle cerebral artery (human)
DNA:SNP:enhancer: (rs10958409) (human)
DNA:SNP:enhancer: (rs1072737) (human)		 RGD PMID:18997786 PMID:20364137 PMID:22961961 PMID:25596186 PMID:29191544 More... RGD:329853324 RGD:329853325 RGD:329853736 RGD:329955463 RGD:329955465 RGD:329955568 RGD:329955569 NCBI chrNW_004955454:13,689,403...13,690,019 JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955435:18,157,173...18,291,732 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chrNW_004955418:26,967,595...27,078,430 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571 		JBrowse link
intracranial berry aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 OMIM
ClinVar		 PMID:25741868 PMID:27895300 NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 ClinVar PMID:2511639 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 More... NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor beta receptor 1 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 More... NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 OMIM
ClinVar		 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:15350224 PMID:16828225 More... NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,819,617...1,851,273
Ensembl chrNW_004955520:1,819,706...1,851,273 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,521,096...3,543,255
Ensembl chrNW_004955520:3,524,684...3,544,666 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,797,657...1,819,359
Ensembl chrNW_004955520:1,797,657...1,818,708 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,064,235...3,065,978 JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,591,831...1,711,871
Ensembl chrNW_004955520:1,591,737...1,712,449 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:2,338,548...2,371,591
Ensembl chrNW_004955520:2,339,521...2,372,400 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697 		JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:1,260,240...1,784,652
Ensembl chrNW_004955406:1,560,485...1,788,250 		JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:800,496...963,004
Ensembl chrNW_004955406:800,453...963,069 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,926,220...1,942,928
Ensembl chrNW_004955520:1,930,606...1,942,727 		JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:2,937,131...2,941,170
Ensembl chrNW_004955520:2,936,815...2,941,170 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:2,793,493...2,975,322
Ensembl chrNW_004955406:2,791,803...2,975,322 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:2,500,619...2,539,123
Ensembl chrNW_004955406:2,501,083...2,540,125 		JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:4,251,863...4,281,775
Ensembl chrNW_004955520:4,251,957...4,281,838 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,087,581...3,205,525
Ensembl chrNW_004955520:3,086,887...3,205,525 		JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,853,145...1,890,338
Ensembl chrNW_004955520:1,850,942...1,890,390 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:260,447...295,842
Ensembl chrNW_004955406:262,346...296,439 		JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:3,631,192...3,641,595 JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:599,438...800,369
Ensembl chrNW_004955406:616,018...800,383 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955520:1,900,802...1,921,350
Ensembl chrNW_004955520:1,901,405...1,921,900 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
LOEYS-DIETZ SYNDROME 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp7 insulin like growth factor binding protein 7 ISO ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis OMIM
ClinVar		 PMID:12441727 PMID:21835307 PMID:25741868 PMID:25741915 NCBI chrNW_004955447:14,048,834...14,110,264
Ensembl chrNW_004955447:14,047,732...14,108,414 		JBrowse link
thoracic aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21778426 PMID:24804794 PMID:28492532 NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216 		JBrowse link
G Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:21358634 PMID:28492532 NCBI chrNW_004955419:26,423,243...26,427,384
Ensembl chrNW_004955419:26,423,243...26,432,024 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,471,539...27,553,078
Ensembl chrNW_004955419:27,471,930...27,488,065 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:27632686 NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:52,825,397...52,874,007
Ensembl chrNW_004955403:52,832,604...52,874,264 		JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:26,577,172...26,687,750
Ensembl chrNW_004955419:26,574,835...26,687,803 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 More... NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:1352273 PMID:1780712 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 More... NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO protein:increased expression:aorta (human) RGD PMID:29137225 RGD:401851087 NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,323,164...27,386,488
Ensembl chrNW_004955419:27,348,452...27,388,965 		JBrowse link
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596 		JBrowse link
G Defb134 defensin beta 134 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,215,271...53,221,539 JBrowse link
G Defb135 defensin beta 135 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,199,675...53,211,089 JBrowse link
G Defb136 defensin beta 136 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,168,733...53,170,177
Ensembl chrNW_004955403:53,167,242...53,170,281 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21563328 PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:25,584,404...25,665,590
Ensembl chrNW_004955419:25,584,404...25,665,590 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 More... NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:3265608 PMID:6019437 PMID:9536098 PMID:11704759 PMID:11992261 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,616,606...27,619,908 JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:26,872,734...27,241,917
Ensembl chrNW_004955419:26,872,728...27,239,464 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:26,760,500...26,788,933
Ensembl chrNW_004955419:26,760,500...26,788,933 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 PMID:32748548 NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:22641149 PMID:25741868 PMID:28492532 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,524,008...27,548,375
Ensembl chrNW_004955419:27,523,730...27,547,571 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:20301719 PMID:23395478 More... NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:25434006 PMID:25741868 PMID:28492532 PMID:33824467 NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta		 CTD
RGD		 PMID:16159824 PMID:20621845 RGD:1582608 RGD:5129489 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta
protein:decreased activity:aorta (human)		 CTD
RGD		 PMID:16159824 PMID:16678588 PMID:16820601 PMID:20621845 RGD:1580554 RGD:1582351 RGD:5129489 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:19,471,552...19,479,121
Ensembl chrNW_004955422:19,471,552...19,479,121 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 More... NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,778,300...27,819,878
Ensembl chrNW_004955419:27,778,300...27,819,878 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 More... NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G Neil2 nei like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chrNW_004955403:53,037,008...53,044,996
Ensembl chrNW_004955403:53,037,743...53,048,723 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 More... NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:24667040 More... NCBI chrNW_004955425:6,176,335...7,335,867
Ensembl chrNW_004955425:6,176,432...7,331,446 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 PMID:32748548 NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:26,414,891...26,423,260
Ensembl chrNW_004955419:26,410,911...26,423,718 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 More... NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17576681 More... NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 PMID:32748548 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chrNW_004955521:105,565...160,906
Ensembl chrNW_004955521:104,918...159,724 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:25,674,771...25,741,357
Ensembl chrNW_004955419:25,674,771...25,741,355 		JBrowse link
G Tbc1d2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,266,214...27,312,908
Ensembl chrNW_004955419:27,266,207...27,312,839 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,919,664...27,983,426
Ensembl chrNW_004955419:27,916,011...27,976,163 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7664267 PMID:7862150 PMID:8246946 PMID:8555189 PMID:9395234 More... NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955423:2,573,851...2,765,353
Ensembl chrNW_004955423:2,573,795...2,765,772 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chrNW_004955450:5,296,670...5,827,252
Ensembl chrNW_004955450:5,301,765...5,479,638 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,841,424...27,915,540
Ensembl chrNW_004955419:27,841,424...27,915,540 		JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,390,098...27,420,727
Ensembl chrNW_004955419:27,390,173...27,419,681 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,553,040...27,568,417
Ensembl chrNW_004955419:27,553,058...27,568,332 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,820,265...27,841,210
Ensembl chrNW_004955419:27,823,503...27,842,986 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        vascular disease 2851
          Aneurysm 227
            Aberrant Subclavian Artery 0
            Dissecting Aneurysm + 42
            Endoleak 0
            False Aneurysm 0
            Iliac Aneurysm 0
            Infected Aneurysm 0
            Retinal Arterial Macroaneurysm + 1
            Ruptured Aneurysm + 7
            aortic aneurysm + 194
            heart aneurysm + 4
            intracranial aneurysm + 36
            retinal microaneurysm 0
paths to the root