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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:aortic aneurysm
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Accession:DOID:3627 term browser browse the term
Definition:An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (DO)
Synonyms:exact_synonym: AORTIC DILATATION;   Aortic Aneurysms
 narrow_synonym: ASCENDING AORTIC DILATION;   FAMILIAL AORTIC ANEURYSMS
 primary_id: MESH:D001014
 xref: EFO:0001666;   ICD10CM:I71.1;   ICD10CM:I71.3;   ICD10CM:I71.5;   ICD10CM:I71.8;   ICD10CM:I71.9;   ICD9CM:441.1;   ICD9CM:441.3;   ICD9CM:441.5;   ICD9CM:441.6;   NCI:C26697;   NCI:C27046;   NCI:C27198;   NCI:C27299
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase IEP RGD PMID:17182931 RGD:1626150 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO RGD PMID:16397885 RGD:2313928 NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764 		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 chr 9:59,295,837...59,395,469
Ensembl chr 9:59,295,541...59,393,901 		JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide IAGP MouseDO NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 IAGP
ISO 		DNA:missense mutation:CDS:p.E161K (human) MouseDO
RGD		 PMID:22440127 RGD:42722009 NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fbn1 fibrillin 1 severity IAGP
ISO 		DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar Annotator: match by term: Ascending aortic dilation
DNA:missense mutation:cds:p.G1127S (human) 		ClinVar
RGD		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:7365039, RGD:1300362 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Klf15 Kruppel-like transcription factor 15 IAGP MouseDO NCBI chr 6:90,437,785...90,468,785
Ensembl chr 6:90,439,558...90,452,220 		JBrowse link
G Lox lysyl oxidase IAGP RGD PMID:12417550 RGD:1581885 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mir145a microRNA 145a disease_progression ISO miRNA:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle 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 chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		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 chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) IMP RGD PMID:22570740 RGD:6483518 NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO RGD PMID:9697825 RGD:8547863 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm 		CTD
ClinVar		 PMID:21217753 PMID:25741868 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916 		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 chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar
RGD		 PMID:25741868 PMID:37823753 PMID:18313409 RGD:2299005 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Ascending aortic dilation
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16791849 PMID:16885183 PMID:17061023 PMID:18781618 PMID:24033266 More... RGD:2299005 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:24602481 RGD:11039028 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 More... NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP
ISO 		mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22539767 PMID:18451329 RGD:5147451 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Ahcy S-adenosylhomocysteine hydrolase susceptibility ISO DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 2:154,901,230...154,916,417
Ensembl chr 2:154,901,230...154,916,417 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO
IMP 		DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855 PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Casp3 caspase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Cav1 caveolin 1, caveolae protein IMP associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) severity ISO mRNA:increased expression:aorta:
protein:decreased expression:serum (rat) 		RGD PMID:15010288 PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Dab2ip disabled 2 interacting protein sexual_dimorphism ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs7025486 (human)
mRNA:increased expression:aorta (human)
DNA:SNP:CDS:intron 1 (rs7025486) (human) 		CTD
RGD		 PMID:20622881 PMID:28698188 PMID:31028191 PMID:20622881 RGD:401938619, RGD:401938604, RGD:401901599 NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34796763 NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Ehf ets homologous factor treatment ISO RGD PMID:14662712 RGD:1581123 NCBI chr 2:103,093,776...103,133,620
Ensembl chr 2:103,093,778...103,133,623 		JBrowse link
G Eln elastin treatment ISO RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		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 chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fasl Fas ligand ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Folh1 folate hydrolase 1 susceptibility ISO DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 7:86,365,733...86,425,171
Ensembl chr 7:86,368,185...86,425,151 		JBrowse link
G Ftl1 ferritin light polypeptide 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:45,107,368...45,109,310
Ensembl chr 7:45,107,368...45,109,308 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO RGD PMID:22797469 RGD:329961302 NCBI chr 2:122,424,954...122,441,758
Ensembl chr 2:122,424,948...122,441,784 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Gys1 glycogen synthase 1, muscle ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il4 interleukin 4 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Itgam integrin alpha M ameliorates ISO
IMP 		protein:increased expression:aorta (human) RGD PMID:33749307 PMID:33749307 RGD:329853751, RGD:329853751 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Itgav integrin alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260 		JBrowse link
G Kng1 kininogen 1 ISO DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:10965315 RGD:1581887 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IDA RGD PMID:16311603 RGD:1582313 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mir363 microRNA 363 ISO mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr  X:51,830,570...51,830,644
Ensembl chr  X:51,830,570...51,830,644 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16082623 PMID:16115023 RGD:1582356, RGD:1582355 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607 PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19010778 PMID:11877705 PMID:15300177 RGD:1582584, RGD:1582579 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:16293969 RGD:1582519 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:16293969 RGD:1582519 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association 		ISO RGD PMID:20016209 PMID:21256058 PMID:24484904 PMID:15238617 PMID:16458924 More... RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment 		ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16432074 PMID:17196988 PMID:16432074 PMID:21256058 RGD:1582641, RGD:1582641, RGD:13207313 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479 		JBrowse link
G Nnmt nicotinamide N-methyltransferase susceptibility ISO DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chr 9:48,448,905...48,518,958
Ensembl chr 9:48,503,177...48,516,453 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ameliorates IMP RGD PMID:31512366 RGD:155882451 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		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 chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G P2ry12 purinergic receptor P2Y, G-protein coupled 12 ISO RGD PMID:19028049 RGD:6480528 NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) ISO RGD PMID:11807372 RGD:1581024 NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Postn periostin, osteoblast specific factor ISO
IEP 		protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Sell selectin, lymphocyte IMP RGD PMID:15998669 RGD:5685707 NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO RGD PMID:20554458 RGD:4144856 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 susceptibility ISO DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196988 PMID:17196988 RGD:1625699 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sort1 sortilin 1 ISO DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 3:108,191,272...108,268,835
Ensembl chr 3:108,191,398...108,268,827 		JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166 		JBrowse link
G Tyms thymidylate synthase susceptibility ISO DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		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 polypeptide kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		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 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Npr1 natriuretic peptide receptor 1 IMP associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626
Ensembl chr 7:127,485,399...127,494,626 		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, aorta ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More... NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 PMID:36517271 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:28492532 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:52,598,703...52,625,005
Ensembl chr18:52,598,765...52,625,003 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		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 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:52,598,703...52,625,005
Ensembl chr18:52,598,765...52,625,003 		JBrowse link
Familial Thoracic Aortic Aneurysm 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to ClinVar
OMIM		 PMID:25741868 PMID:26854927 PMID:28492532 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		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 I, domain containing 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition OMIM
ClinVar		 PMID:25741868 PMID:32855533 NCBI chr 9:59,874,214...60,429,394
Ensembl chr 9:59,874,214...60,429,329 		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, aorta ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More... NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		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 chr16:13,802,975...13,922,916
Ensembl chr16:13,804,468...13,919,364 		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 chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269 		JBrowse link
G Marf1 meiosis regulator and mRNA stability 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:13,927,030...13,977,157
Ensembl chr16:13,927,037...13,981,215 		JBrowse link
G Mpv17l Mpv17 transgene, kidney disease mutant-like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:13,721,025...13,767,483
Ensembl chr16:13,721,025...13,767,483 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 More... NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | 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:17666408 More... NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		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, aorta 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,451,183...34,452,548
Ensembl chr19:34,451,178...34,452,564 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		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 PMID:36946977 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle 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 chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		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 chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:34,510,940...34,545,574
Ensembl chr16:34,510,986...34,545,572 		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 chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547 		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 chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946 		JBrowse link
G Itgb5 integrin beta 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708 		JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902 		JBrowse link
G Muc13 mucin 13, epithelial transmembrane ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,614,407...33,640,299
Ensembl chr16:33,614,407...33,640,304 		JBrowse link
G Mylk myosin, light polypeptide 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,005,441...33,063,682
Ensembl chr16:33,005,441...33,063,682 		JBrowse link
G Ropn1 ropporin, rhophilin associated protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:34,470,271...34,498,980
Ensembl chr16:34,470,291...34,498,988 		JBrowse link
G Slc12a8 solute carrier family 12 (potassium/chloride transporters), member 8 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,337,440...33,484,508
Ensembl chr16:33,337,698...33,484,505 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,071,826...33,119,932
Ensembl chr16:33,071,812...33,120,639 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733 		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, 3' pre-RNA subunit 2, tau ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:25640679 PMID:28492532 NCBI chr19:31,060,241...31,063,992
Ensembl chr19:31,060,237...31,064,469 		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 chr19:30,523,276...30,526,896
Ensembl chr19:30,523,263...30,527,065 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I 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 chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433 		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 microfibrillar 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 chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		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 chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
IAGP 		CTD Direct Evidence: marker/mechanism
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: 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
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 PMID:28492532 NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO
IAGP 		CTD Direct Evidence: marker/mechanism
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
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO
IAGP 		CTD Direct Evidence: marker/mechanism
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
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 I susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 2A ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II 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 chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 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 		ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II 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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections OMIM
ClinVar		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		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: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		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 chr 1:183,078,604...183,105,356
Ensembl chr 1:183,078,134...183,106,331 		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 chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		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 chr 1:183,057,916...183,078,839
Ensembl chr 1:183,057,916...183,078,813 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		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 chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		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 chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		JBrowse link
G Fam177b family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,010,580...183,057,296 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 chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Kcnk2 potassium channel, subfamily K, member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,940,127...189,134,951
Ensembl chr 1:188,940,127...189,134,470 		JBrowse link
G Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		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 chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		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 chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		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 chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,170,251...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		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 chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen related receptor, beta ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402 		JBrowse link
G Gpatch2l G patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:86,288,569...86,341,439
Ensembl chr12:86,288,632...86,338,558 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		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 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		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 II ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		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, aorta 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 chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar PMID:25741868 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: PHACE ASSOCIATION ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		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 chr 9:63,509,897...63,551,872
Ensembl chr 9:63,509,942...63,551,870 		JBrowse link
G Acta2 actin alpha 2, smooth muscle, aorta ISO CTD Direct Evidence: marker/mechanism
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 aneurysm or 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 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 aneurysms and dissections
DNA:missense mutation, deletion:cds:
DNA:missense mutation, insertion:cds: 		CTD
ClinVar
RGD		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... RGD:11069461, RGD:12879440 NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Adam10 a disintegrin and metallopeptidase domain 10 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511 		JBrowse link
G Adam17 a disintegrin and metallopeptidase domain 17 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633 		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 chr 4:47,469,833...47,474,367
Ensembl chr 4:47,465,067...47,474,333 		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 chr 4:47,015,365...47,057,339
Ensembl chr 4:47,015,669...47,057,427 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,450,926...46,472,657
Ensembl chr 4:46,450,902...46,472,657 		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 chr 9:59,295,837...59,395,469
Ensembl chr 9:59,295,541...59,393,901 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:27632686 PMID:38531898 NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G Blk B lymphoid kinase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,610,286...63,654,636
Ensembl chr14:63,610,285...63,654,486 		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: 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 and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Col15a1 collagen, type XV, alpha 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:47,207,744...47,313,165
Ensembl chr 4:47,208,161...47,313,167 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
protein:increased expression:aorta (human) 		ClinVar
RGD		 PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 More... RGD:401851087 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Col3a1 collagen, type III, alpha 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 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: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1352273 PMID:1556139 PMID:1780712 PMID:1939638 PMID:2049575 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 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: 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 aneurysm or 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: 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:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 More... NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 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 | 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 chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO protein:increased expression:aorta (human) RGD PMID:29137225 RGD:401851087 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Coro2a coronin, actin binding protein 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,536,937...46,601,929
Ensembl chr 4:46,536,937...46,602,202 		JBrowse link
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Defb30 defensin beta 30 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,271,536...63,275,313
Ensembl chr14:63,271,536...63,287,409 		JBrowse link
G Defb42 defensin beta 42 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,284,445...63,286,052
Ensembl chr14:63,284,440...63,295,598 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like 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 chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		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 chr 4:48,190,711...48,279,635
Ensembl chr 4:48,193,323...48,279,558 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism
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 aneurysm or 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 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 		CTD
ClinVar		 PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		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 Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 More... NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,382,599...63,419,136
Ensembl chr14:63,382,599...63,417,027 		JBrowse link
G Flna filamin, alpha 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: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
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: 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: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
protein:decreased expression:aorta (human) 		ClinVar
RGD		 PMID:1854572 PMID:3265608 PMID:6019437 PMID:9536098 PMID:10982489 More... RGD:401851087 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 More... NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		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 chr 4:46,662,318...46,991,714
Ensembl chr 4:46,662,305...46,991,873 		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 chr 4:47,091,894...47,123,058
Ensembl chr 4:47,091,909...47,123,070 		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 chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		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 chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,393,989...46,404,183
Ensembl chr 4:46,393,989...46,413,506 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954 		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 PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mat2a methionine adenosyltransferase 2A 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 PMID:9536098 PMID:17576681 PMID:21813468 PMID:25557781 PMID:25741868 More... NCBI chr 6:72,409,779...72,416,539
Ensembl chr 6:72,409,782...72,416,541 		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 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 aneurysm or 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 aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:10405444 PMID:17334363 PMID:17576681 PMID:18414213 More... NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Mfap5 microfibrillar 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:29618732 PMID:33824467 NCBI chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249 		JBrowse link
G Miat myocardial infarction associated transcript (non-protein coding) ISO mRNA:increased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr 5:112,361,094...112,376,814
Ensembl chr 5:112,361,094...112,377,261 		JBrowse link
G Mir140 microRNA 140 ameliorates ISO RGD PMID:32678444 RGD:329347832 NCBI chr 8:108,277,876...108,277,945
Ensembl chr 8:108,277,876...108,277,945 		JBrowse link
G Mir145a microRNA 145a ISO RNA:decreased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582530, RGD:1582351 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582351 RGD:1582530 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA
ISO 		CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		CTD
RGD		 PMID:16159824 PMID:16159824 PMID:20621845 RGD:1582608, RGD:5129489 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression:aorta
protein:decreased activity:aorta (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16159824 PMID:20621845 PMID:16820601 PMID:16678588 RGD:5129489, RGD:1582351, RGD:1580554 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		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 chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, 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 aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 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
RGD		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11727201 More... RGD:1580903 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide 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: 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: 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Nans N-acetylneuraminic acid synthase (sialic acid synthase) ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,489,319...46,503,439
Ensembl chr 4:46,489,248...46,503,632 		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 chr 4:46,138,732...46,172,403
Ensembl chr 4:46,138,613...46,172,403 		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 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:11727201 PMID:12673792 PMID:12955720 PMID:15689448 More... NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Neil2 nei like 2 (E. coli) ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:63,419,888...63,431,604
Ensembl chr14:63,419,892...63,431,305 		JBrowse link
G Notch1 notch 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: 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 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: 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: 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:16199547 PMID:16614245 More... NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		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 chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		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 chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I 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: 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:16646045 PMID:17576681 PMID:23910461 PMID:24667040 More... NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:30455415 PMID:32748548 NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		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 chr 4:47,474,661...47,483,233
Ensembl chr 4:47,474,658...47,483,242 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) 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: 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 PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 More... NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), 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: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 aneurysm or 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 chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		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 chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		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 aneurysm or 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 aneurysm or 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 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:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		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: 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 chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 PMID:32748548 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		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 chr18:52,598,703...52,625,005
Ensembl chr18:52,598,765...52,625,003 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:48,124,912...48,186,507
Ensembl chr 4:48,124,915...48,186,507 		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 chr 4:46,604,390...46,650,396
Ensembl chr 4:46,604,390...46,650,209 		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 chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | 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: 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 		CTD
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		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 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:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I 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 aneurysm or 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 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: 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
RGD		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... RGD:2299005 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7664267 PMID:7862150 PMID:8199354 PMID:8246946 PMID:8555189 More... RGD:2299005 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Tgfbr3 transforming growth factor, beta receptor III ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:107,254,433...107,437,495
Ensembl chr 5:107,254,436...107,437,495 		JBrowse link
G Thsd4 thrombospondin, type I, domain containing 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 9:59,874,214...60,429,394
Ensembl chr 9:59,874,214...60,429,329 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,038,940...46,116,032
Ensembl chr 4:46,038,935...46,116,032 		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 chr 4:46,505,072...46,536,148
Ensembl chr 4:46,493,781...46,536,141 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,376,505...46,393,557
Ensembl chr 4:46,376,505...46,389,437 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,114,746...46,138,725
Ensembl chr 4:46,114,746...46,138,694 		JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      cardiovascular system disease 4697
        vascular disease 3258
          Aneurysm 257
            aortic aneurysm 224
              Aortic Aneurysm, Giant Congenital + 1
              Aortic Rupture 7
              Loeys-Dietz syndrome + 48
              abdominal aortic aneurysm + 72
              thoracic aortic aneurysm + 118
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      cardiovascular system disease 4697
        vascular disease 3258
          artery disease 2085
            aortic disease 814
              aortic aneurysm 224
                Aortic Aneurysm, Giant Congenital + 1
                Aortic Rupture 7
                Loeys-Dietz syndrome + 48
                abdominal aortic aneurysm + 72
                thoracic aortic aneurysm + 118
paths to the root