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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Aneurysm
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Accession:DOID:9001665 term browser browse the term
Definition:Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.
Synonyms:exact_synonym: Aneurysms;   Fusiform Aneurysm;   Fusiform Aneurysms;   Saccular Aneurysm
 primary_id: MESH:D000783
 xref: EFO:0009659


show annotations for term's descendants           Sort by:
Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:snp:intron:IVS20+1G>A (human) RGD PMID:2349939 RGD:1300382 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:29979980 NCBI chr 9:87,336,321...87,395,546
Ensembl chr 9:87,336,326...87,395,505 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34796763 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:16385529 RGD:1582153 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21742783 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Nox4 NADPH oxidase 4 IEP RGD PMID:19620512 RGD:2324659 NCBI chr 1:150,313,736...150,491,480
Ensembl chr 1:150,313,728...150,491,483 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:11567232 RGD:1581391 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		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 IMP RGD PMID:24602481 RGD:11039028 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:33,925,458...33,971,596 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:174,178,773...174,182,371 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 More... NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22539767 PMID:18451329 RGD:5147451 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660 		JBrowse link
G Ahcy adenosylhomocysteinase susceptibility ISO DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:164,029,338...164,044,587 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855 PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Csf2 colony stimulating factor 2 severity IEP mRNA:increased expression:aorta:
protein:decreased expression:serum (rat) 		RGD PMID:15010288 PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031 		JBrowse link
G Dab2ip DAB2 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 3:39,312,745...39,483,730
Ensembl chr 3:39,312,745...39,483,730 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34796763 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581 		JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:110,094,770...110,134,991
Ensembl chr 3:110,096,756...110,134,928 		JBrowse link
G Eln elastin treatment ISO
IDA 		RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		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 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Folh1 folate hydrolase 1 susceptibility ISO DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 1:149,828,286...149,914,313
Ensembl chr 1:149,840,760...149,914,035 		JBrowse link
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Gatm glycine amidinotransferase ISO RGD PMID:22797469 RGD:329961302 NCBI chr 3:130,112,508...130,137,664
Ensembl chr 3:130,112,509...130,129,355 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Itgam integrin subunit alpha M ameliorates ISO protein:increased expression:aorta (human) RGD PMID:33749307 PMID:33749307 RGD:329853751, RGD:329853751 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943 		JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:89,245,382...89,333,512
Ensembl chr 3:89,245,095...89,333,511 		JBrowse link
G Kng1 kininogen 1 IAGP DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr11:91,317,354...91,340,148
Ensembl chr11:91,317,355...91,340,148 		JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427 		JBrowse link
G Mir363 microRNA 363 ISO mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr  X:137,342,777...137,342,863 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023 PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607 PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:12,782,813...12,793,105 		JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19010778 PMID:15300177 PMID:11877705 RGD:1582579, RGD:1582584 NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association 		IEP
IDA
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 chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826 		JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:13,008,890...13,018,729 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment 		ISO
IDA 		CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16432074 PMID:17196988 PMID:16432074 PMID:21256058 RGD:1582641, RGD:1582641, RGD:13207313 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:28,121,366...28,131,079 		JBrowse link
G Nnmt nicotinamide N-methyltransferase susceptibility ISO DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chr 8:57,820,156...57,851,301
Ensembl chr 8:57,825,464...57,843,174 		JBrowse link
G Nono non-POU domain containing, octamer-binding ameliorates ISO RGD PMID:31512366 RGD:155882451 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:70,593,888...70,611,979 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		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 3:97,614,616...97,632,053
Ensembl chr 3:97,614,616...97,624,532 		JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:145,629,967...145,633,410 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:140,677,754...140,709,300 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600 		JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO 		mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196988 PMID:17196988 RGD:1625699 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sort1 sortilin 1 ISO DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 2:198,609,466...198,690,481
Ensembl chr 2:198,612,148...198,690,481 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:149,978,685...149,985,452 		JBrowse link
G Tyms thymidylate synthetase susceptibility ISO DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925196 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:151,203,949...151,251,126 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:86,773,018...86,780,961 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 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572 		JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS
ISO 		DNA:missense mutation:CDS:p.E161K (human) MouseDO
RGD		 PMID:22440127 RGD:42722009 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Ascending aortic dilation
DNA:missense mutation:cds:p.C1039G (mouse) 		ClinVar
RGD		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:1300362, RGD:7365039 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Klf15 KLF transcription factor 15 ISS MouseDO NCBI chr 4:124,522,652...124,535,613
Ensembl chr 4:124,522,909...124,542,373 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Mir145 microRNA 145 disease_progression ISO miRNA:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr18:57,369,983...57,370,070 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		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 chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740 PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:56,062,890...56,074,135 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chr 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		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 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		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 chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar
RGD		 PMID:25741868 PMID:37823753 PMID:18313409 RGD:2299005 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 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 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		JBrowse link
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
Aortic Rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,036,576...139,042,074
Ensembl chr 5:139,036,492...139,043,070 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:178,231,766...178,247,591
Ensembl chr 2:178,231,766...178,247,088 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:191,932,969...191,935,490 JBrowse link
coronary aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum RGD PMID:22683371 RGD:8694456 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15548583 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350 		JBrowse link
G Mill1 MHC I like leukocyte 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10899738 NCBI chr 1:87,500,591...87,526,983
Ensembl chr 1:87,500,676...87,526,981 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO RGD PMID:12103254 RGD:1582363 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
Dissecting Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8757037 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,036,576...139,042,074
Ensembl chr 5:139,036,492...139,043,070 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15561045 RGD:1582530 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772368 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027248 PMID:16885183 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:133,681,702...133,683,266 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		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 chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		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 chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:28492532 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:48,118,740...48,139,824
Ensembl chr18:48,117,375...48,140,864 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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 chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		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 chr18:48,118,740...48,139,824
Ensembl chr18:48,117,375...48,140,864 		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 5:133,681,684...133,683,266
Ensembl chr 5:133,681,702...133,683,266 		JBrowse link
Familial Thoracic Aortic Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition OMIM
ClinVar		 PMID:25741868 PMID:32855533 NCBI chr 8:69,280,397...69,880,144
Ensembl chr 8:69,284,646...69,917,342 		JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:19778989 PMID:21212136 More... NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		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 chr10:2,286,999...2,453,890
Ensembl chr10:2,287,000...2,453,728 		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 chr10:1,221,294...1,243,144
Ensembl chr10:1,221,371...1,245,241 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:1,395,271...1,439,974
Ensembl chr10:1,395,282...1,439,974 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:2,495,605...2,532,448
Ensembl chr10:2,495,607...2,532,448 		JBrowse link
G Myh11 myosin heavy chain 11 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 chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		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 chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 More... NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:241,428,048...241,429,366
Ensembl chr 1:241,331,619...241,431,190 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		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 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:241,437,524...241,470,936
Ensembl chr 1:241,437,524...241,470,740 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		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 chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		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 chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:79,557,267...79,593,128
Ensembl chr11:79,557,274...79,593,285 		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 chr11:79,175,470...79,268,975
Ensembl chr11:79,175,482...79,268,126 		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 chr11:80,512,096...80,600,150
Ensembl chr11:80,512,096...80,600,092 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,333,588...80,449,373
Ensembl chr11:80,333,590...80,449,373 		JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:79,703,345...80,309,210
Ensembl chr11:79,703,366...80,133,329 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,462,350...80,489,773
Ensembl chr11:80,465,737...80,485,474 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More... NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:81,038,759...81,121,887
Ensembl chr11:81,038,985...81,101,299 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:79,603,053...79,632,344
Ensembl chr11:79,603,055...79,632,344 		JBrowse link
G Slc12a8 solute carrier family 12, member 8 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,622,000...80,771,674
Ensembl chr11:80,622,000...80,771,659 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,965,965...81,023,234
Ensembl chr11:80,965,967...81,028,448 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr11:80,780,865...80,890,877
Ensembl chr11:80,786,087...80,890,877 		JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstf2t cleavage stimulation factor subunit 2, tau variant ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:25640679 PMID:28492532 NCBI chr 1:238,366,042...238,369,608
Ensembl chr 1:238,365,912...238,369,749 		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 chr 1:237,794,969...237,798,650
Ensembl chr 1:237,794,969...237,798,650 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16646045 PMID:17576681 PMID:23910461 More... NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:237,823,053...239,103,005 		JBrowse link
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition OMIM
ClinVar		 PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 More... NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IEP protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr10:86,773,018...86,780,961 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Ccdc180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 5:64,950,522...65,019,127
Ensembl chr 5:64,950,515...65,019,127 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IMP
IEP 		mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression IEP protein:increased expression:common carotid artery plus branches (Rat) RGD PMID:33885814 RGD:329812012 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:237,222,432...237,225,883 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 7:105,619,776...105,857,246
Ensembl chr 7:105,619,757...105,856,960 		JBrowse link
G Cst3 cystatin C IEP mRNA:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctsb cathepsin B ISO
IEP 		protein:increased expression:cerebral aneurysm (human)
mRNA, protein:increased expression, increased activity:Circle of Willis (rat) 		RGD PMID:18635848 PMID:18635848 RGD:2306495, RGD:2306495 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:185,747,165...185,765,582 		JBrowse link
G Ctss cathepsin S IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Eng endoglin ISO DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E RGD PMID:19299629 RGD:329845530 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Klf5 KLF transcription factor 5 ISO protein:increased expression:artery RGD PMID:30201338 RGD:155883158 NCBI chr15:82,472,081...82,487,267
Ensembl chr15:82,472,065...82,487,262 		JBrowse link
G Kmt2d lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
G Mir143 microRNA 143 ISO RNA:decreased expression:artery
RNA:decreased expression:serum 		RGD PMID:32602008 PMID:30201338 RGD:155882593, RGD:155883158 NCBI chr18:57,371,349...57,371,453 JBrowse link
G Mir145 microRNA 145 ISO RNA:decreased expression:serum RGD PMID:30201338 RGD:155883158 NCBI chr18:57,369,983...57,370,070 JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility IEP
ISO 		mRNA:increased expression:blood vessel RGD PMID:17569872 PMID:16961137 PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility 		IEP
ISO
IDA 		mRNA:increased expression:blood vessel
protein:increased expression:artery
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery 		RGD PMID:17569872 PMID:32602008 PMID:21937941 PMID:9310982 PMID:23844137 More... RGD:2290352, RGD:155882593, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1642055, RGD:1582646 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Myocd myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chr10:50,332,356...50,426,819
Ensembl chr10:50,332,356...50,426,819 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 5:65,211,632...65,244,532
Ensembl chr 5:65,211,358...65,244,665 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:28,121,366...28,131,079 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO 		RGD PMID:21321533 PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr14:5,541,821...5,585,140 JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030 		JBrowse link
G Sox17 SRY-box transcription factor 17 susceptibility
no_association 		ISO protein:decreased expression:middle cerebral artery (human)
DNA:SNP:enhancer: (rs10958409) (human)
DNA:SNP:enhancer: (rs1072737) (human) 		RGD PMID:25596186 PMID:18997786 PMID:31250579 PMID:20364137 PMID:31040677 More... RGD:329853324, RGD:329955569, RGD:329955568, RGD:329955465, RGD:329955463, RGD:329853736, RGD:329853325 NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:19,814,360...19,819,854 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:192,985,164...193,145,234
Ensembl chr 2:192,984,621...193,145,421 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:17569872 RGD:2290352 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		JBrowse link
G Tnf tumor necrosis factor treatment IMP RGD PMID:24628611 RGD:10450592 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
G Zfp658 zinc finger protein 658 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 1:103,129,001...103,143,510
Ensembl chr 1:103,129,101...103,142,366 		JBrowse link
intracranial berry aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 | ClinVar Annotator: match by term: THSD1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27895300 PMID:28492532 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		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 subfamily 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 chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		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 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		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 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
ISS 		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 		CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 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 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO
ISS 		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
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO
ISS 		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
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 5 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 OMIM
ClinVar		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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:2030732 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		OMIM
ClinVar		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE II | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
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:18484607 PMID:19881469 More... NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:27,529,978...27,554,937 		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, type 1C | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16828225 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		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 chr13:97,471,931...97,499,531
Ensembl chr13:97,471,604...97,499,535 		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 chr13:99,397,127...99,425,056
Ensembl chr13:99,400,115...99,425,053 		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 chr13:97,451,736...97,471,598
Ensembl chr13:97,451,737...97,471,519 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,953,841...98,963,577
Ensembl chr13:98,953,843...98,963,810 		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 chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:98,145,893...98,183,304 		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 chr13:99,431,955...99,503,510
Ensembl chr13:99,433,130...99,503,509 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:101,699,043...102,316,877
Ensembl chr13:101,889,706...102,316,877 		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 chr13:97,435,189...97,441,261 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 chr13:101,316,413...101,457,109
Ensembl chr13:101,316,413...101,457,109 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,586,296...97,606,223
Ensembl chr13:97,586,341...97,606,223 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,811,852...98,817,264
Ensembl chr13:98,811,856...98,817,264 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:103,297,387...103,494,686
Ensembl chr13:103,297,393...103,494,686 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:103,041,488...103,080,069
Ensembl chr13:103,041,490...103,080,009 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,158,060...100,189,339
Ensembl chr13:100,158,060...100,189,503 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,981,727...99,086,998
Ensembl chr13:98,983,020...99,086,701 		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 chr13:97,502,040...97,547,155
Ensembl chr13:97,494,275...97,543,587 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,382,716...99,382,798
Ensembl chr13:99,382,716...99,382,798 		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 chr13:98,854,235...98,894,208
Ensembl chr13:98,871,289...98,894,252 		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 chr13:98,894,347...98,928,754
Ensembl chr13:98,897,108...98,928,781 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,288,984...99,362,817
Ensembl chr13:99,288,647...99,361,053 		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 chr13:100,807,729...100,830,812
Ensembl chr13:100,807,722...100,830,834 		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 chr13:99,529,664...99,584,442
Ensembl chr13:99,529,790...99,544,213 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:101,137,415...101,316,221
Ensembl chr13:101,137,415...101,316,376 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,543,772...97,579,742
Ensembl chr13:97,560,820...97,579,737 		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 chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		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 chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		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 chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
G Gpatch2l G patch domain containing 2-like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,614,344...111,666,603
Ensembl chr 6:111,614,416...111,666,602 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		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 chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		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 chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 More... NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar PMID:25741868 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACE ASSOCIATION ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp7 insulin-like growth factor binding protein 7 ISO ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis OMIM
ClinVar		 PMID:12441727 PMID:21835307 PMID:25741868 NCBI chr14:31,091,681...31,151,623
Ensembl chr14:31,091,347...31,151,620 		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 8:72,978,719...73,017,275
Ensembl chr 8:72,978,741...73,017,278 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism
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 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: 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 chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:80,226,674...80,361,600 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:46,601,583...46,649,344 		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 5:66,564,328...66,568,887
Ensembl chr 5:66,564,330...66,568,887 		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 5:66,104,770...66,146,186
Ensembl chr 5:66,104,773...66,146,186 		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 5:65,538,872...65,561,305
Ensembl chr 5:65,538,535...65,561,437 		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 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572 		JBrowse link
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection ClinVar PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:27,398,949...27,611,215 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		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:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:41,802,701...41,841,004
Ensembl chr15:41,802,994...41,840,982 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic 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:1833974 PMID:2056790 PMID:2961848 PMID:6711564 More... NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,709,395...9,734,066 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:66,297,546...66,403,172
Ensembl chr 5:66,297,461...66,403,170 		JBrowse link
G Col1a1 collagen type I alpha 1 chain 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 chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1352273 PMID:1556139 PMID:1780712 PMID:1939638 PMID:2049575 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 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 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 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 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | 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 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 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO protein:increased expression:aorta (human) RGD PMID:29137225 RGD:401851087 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,623,820...65,677,483
Ensembl chr 5:65,623,823...65,654,602 		JBrowse link
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299 		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:70,884,293...70,886,944
Ensembl chr  X:70,883,958...70,886,871 		JBrowse link
G Defb30 defensin beta 30 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:32748548 NCBI chr15:41,470,697...41,474,458
Ensembl chr15:41,470,697...41,474,458 		JBrowse link
G Defb44 defensin beta 44 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:32748548 NCBI chr15:41,487,871...41,489,562
Ensembl chr15:41,487,871...41,489,562 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21563328 PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		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 chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		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 5:67,313,245...67,406,207
Ensembl chr 5:67,312,098...67,406,444 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		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 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 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 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 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:41,588,114...41,616,168
Ensembl chr15:41,588,117...41,616,168 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | 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 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:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		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 5:65,425,630...65,428,438
Ensembl chr 5:65,425,630...65,428,438 		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 5:133,681,684...133,683,266
Ensembl chr 5:133,681,702...133,683,266 		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 5:65,743,073...66,083,695
Ensembl chr 5:65,743,073...66,083,695 		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 5:66,180,171...66,208,931
Ensembl chr 5:66,180,164...66,208,938 		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 chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		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 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,475,228...65,495,384
Ensembl chr 5:65,475,228...65,494,375 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:67,406,485...67,559,350 		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 chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO 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 aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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 4:106,048,043...106,053,612
Ensembl chr 4:106,038,254...106,053,645 		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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 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:10405444 PMID:17334363 PMID:17576681 PMID:18414213 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:25434006 PMID:25741868 PMID:28492532 PMID:29618732 PMID:33824467 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
G Miat myocardial infarction associated transcript ISO mRNA:increased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr12:50,075,026...50,090,259 JBrowse link
G Mir140 microRNA 140 ameliorates ISO RGD PMID:32678444 RGD:329347832 NCBI chr19:52,375,293...52,375,391
Ensembl chr19:52,375,293...52,375,391 		JBrowse link
G Mir145 microRNA 145 ISO RNA:decreased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr18:57,369,983...57,370,070 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582530, RGD:1582351 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO
IEP 		CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		CTD
RGD		 PMID:16159824 PMID:16159824 PMID:20621845 RGD:1582608, RGD:5129489 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:13,008,890...13,018,729 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP 		protein:decreased activity:aorta (human)
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		CTD
RGD		 PMID:16159824 PMID:16678588 PMID:16820601 PMID:20621845 RGD:1580554, RGD:1582351, RGD:5129489 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		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 chr 1:212,219,793...212,225,214
Ensembl chr 1:212,219,795...212,225,068 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm 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
RGD		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11727201 More... RGD:1580903 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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: 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 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 chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,575,970...65,593,164
Ensembl chr 5:65,576,015...65,610,547 		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 5:65,211,632...65,244,532
Ensembl chr 5:65,211,358...65,244,665 		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 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 PMID:9536098 PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:32748548 NCBI chr15:41,620,650...41,631,551
Ensembl chr15:41,621,352...41,630,834 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		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 5:67,157,141...67,198,287
Ensembl chr 5:67,157,375...67,198,285 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 More... NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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:16646045 PMID:17576681 PMID:23910461 PMID:24667040 More... NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:237,823,053...239,103,005 		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 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		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 5:66,569,184...66,577,394
Ensembl chr 5:66,569,196...66,580,028 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic 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 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 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 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		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 chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		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 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 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 aneurysms and dissections 		ClinVar PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		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 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 PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		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 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		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 chr18:48,118,740...48,139,824
Ensembl chr18:48,117,375...48,140,864 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:67,241,673...67,302,228
Ensembl chr 5:67,241,727...67,302,218 		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 5:65,679,670...65,727,978
Ensembl chr 5:65,679,680...65,726,996 		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 5:65,034,317...65,108,165
Ensembl chr 5:65,034,341...65,108,161 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | 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 chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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:16199547 PMID:17576681 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic 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: 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
RGD		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... RGD:2299005 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | 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 | 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7664267 PMID:7862150 PMID:8199354 PMID:8246946 PMID:8555189 More... RGD:2299005 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr14:2,634,294...2,810,269
Ensembl chr14:2,634,188...2,810,271 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 8:69,280,397...69,880,144
Ensembl chr 8:69,284,646...69,917,342 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,112,062...65,189,563
Ensembl chr 5:65,134,132...65,189,561 		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 5:65,596,149...65,620,434
Ensembl chr 5:65,596,149...65,620,434 		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 5:65,461,489...65,472,019
Ensembl chr 5:65,447,167...65,472,019 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,167,362...65,211,525
Ensembl chr 5:65,181,000...65,211,525 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:65,227,281...65,272,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      cardiovascular system disease 5558
        vascular disease 4039
          Aneurysm 258
            Aberrant Subclavian Artery 0
            Dissecting Aneurysm + 51
            Endoleak 0
            False Aneurysm 0
            Iliac Aneurysm 0
            Infected Aneurysm 0
            Retinal Arterial Macroaneurysm + 1
            Ruptured Aneurysm + 7
            aortic aneurysm + 224
            heart aneurysm + 5
            intracranial aneurysm + 44
            retinal microaneurysm 0
paths to the root