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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
For additional species annotation, visit the Alliance of Genome Resources.


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 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:29979980 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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 1:228,016,439...228,024,736 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21742783 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Nox4 NADPH oxidase 4 IEP RGD PMID:19620512 RGD:2324659 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:11567232 RGD:1581391 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		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 chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		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 chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:89,639,845...89,680,061
Ensembl chr 3:89,641,833...89,679,997 		JBrowse link
G Eln elastin treatment ISO
IDA		 RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		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 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		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 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Kng1 kininogen 1 IAGP DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023 PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607 PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		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 chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nono non-POU domain containing, octamer-binding ameliorates ISO RGD PMID:31512366 RGD:155882451 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:29689197 NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245 		JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		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 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		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 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Klf15 KLF transcription factor 15 ISS MouseDO NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mir145 microRNA 145 disease_progression ISO miRNA:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		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:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740 PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		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 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		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 chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:18313409 RGD:2299005 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		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 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		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 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
Carotid Artery Dissection, Internal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15548583 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO RGD PMID:12103254 RGD:1582363 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8757037 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15561045 RGD:1582530 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772368 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027248 PMID:16885183 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: AAT1 ClinVar PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: AAT1 ClinVar NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939 NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: AAT1 ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders OMIM
ClinVar		 PMID:12417550 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 More... NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders ClinVar PMID:12417550 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 More... NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		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 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26854927 PMID:28492532 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
Familial Thoracic Aortic Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 OMIM
ClinVar		 PMID:25741868 PMID:32855533 NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995 		JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
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 chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		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 chr10:888,053...932,760
Ensembl chr10:888,076...932,753 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus OMIM
ClinVar		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11249915 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus ClinVar PMID:9536098 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI OMIM
ClinVar		 PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195 		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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633 		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 chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		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 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		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:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Familial Thoracic Aortic Aneurysm 7 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 DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 OMIM
ClinVar		 PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:25741868 More... NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080 		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 OMIM
ClinVar		 PMID:25434006 PMID:25741868 PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IEP protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462 		JBrowse link
G Cst3 cystatin C IEP mRNA:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		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 chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kmt2d lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility		 IEP
IDA
ISO		 mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery		 RGD PMID:17569872 PMID:21937941 PMID:9310982 PMID:23844137 PMID:17122420 More... RGD:2290352, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1642055, RGD:1582646 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 RGD PMID:21321533 PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:17569872 RGD:2290352 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Tnf tumor necrosis factor treatment IMP RGD PMID:24628611 RGD:10450592 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637 		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
OMIM		 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		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 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21217753 PMID:22772368 PMID:24033266 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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: Loeys-Dietz syndrome 1 OMIM
ClinVar		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 OMIM
ClinVar		 PMID:8246946 PMID:8317497 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar		 PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C ClinVar PMID:25741868 PMID:27606499 PMID:28492532 PMID:30796334 PMID:32499606 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		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 chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920 		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 chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		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 chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227 		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 chr13:94,720,928...94,866,702
Ensembl chr13:94,720,928...94,866,702 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716 		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 chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397 		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 chr13:94,904,128...94,909,688 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 chr13:98,784,969...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750 		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 chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501 		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 chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435 		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 chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28492532 PMID:28544325 NCBI chr13:97,626,451...97,657,901
Ensembl chr13:97,626,451...97,657,867 		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 chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173 		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 chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248 		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 chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796 		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 chr13:96,362,810...96,397,284 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 chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068 		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 chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370 		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 chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929 		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 chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		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 chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:7737999 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		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 chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome OMIM
ClinVar		 PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp7 insulin-like growth factor binding protein 7 ISO ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis OMIM
ClinVar		 PMID:12441727 PMID:21835307 PMID:25741868 NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314 		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 aneurysm and aortic dissection ClinVar PMID:21778426 PMID:24804794 PMID:28492532 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic 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:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 More... RGD:11069461, RGD:12879440 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		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:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:27632686 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 PMID:2349939 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		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 PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 More... NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO 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:17576681 PMID:20847697 More... NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		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:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Defb30 defensin beta 30 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,296,636...37,298,429
Ensembl chr15:37,296,602...37,298,479 		JBrowse link
G Defb44 defensin beta 44 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,312,308...37,313,370
Ensembl chr15:37,312,308...37,313,370 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		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 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 CTD
ClinVar		 PMID:952872 PMID:1301946 PMID:1438159 PMID:1569206 PMID:1729284 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:7606779 PMID:8653794 PMID:8900230 PMID:9054436 PMID:9536098 More... NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Flna filamin A 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 PMID:6019437 PMID:9536098 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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:25741868 PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		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 chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:22641149 PMID:28492532 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 More... NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO 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:28166811 PMID:28492532 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:20301719 PMID:23395478 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25434006 PMID:25741868 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Miat myocardial infarction associated transcript ISO mRNA:increased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr12:44,414,620...44,429,852 JBrowse link
G Mir145 microRNA 145 ISO RNA:decreased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582530, RGD:1582351 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar
RGD		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 More... RGD:1580903 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: 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 PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:9536098 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863 		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: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:9536098 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO 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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:16646045 PMID:23910461 PMID:25741868 PMID:27442293 PMID:27879251 More... NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysm		 CTD
ClinVar		 PMID:30455415 PMID:32748548 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:9536098 PMID:14569121 PMID:16550171 PMID:17576681 PMID:17935213 More... NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		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 PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16199547 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		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 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		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:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 More... NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic 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		 CTD
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 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: 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:2647812 PMID:5173258 PMID:8499949 PMID:9536098 PMID:12499371 More... RGD:2299005 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 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 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7664267 PMID:7862150 PMID:8246946 PMID:8555189 PMID:9395234 More... RGD:2299005 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      cardiovascular system disease 4908
        vascular disease 3688
          Aneurysm 185
            Aberrant Subclavian Artery 0
            Dissecting Aneurysm + 47
            Endoleak 0
            False Aneurysm 0
            Iliac Aneurysm 0
            Infected Aneurysm 0
            Retinal Arterial Macroaneurysm + 1
            Ruptured Aneurysm + 7
            aortic aneurysm + 160
            heart aneurysm + 4
            intracranial aneurysm + 32
            retinal microaneurysm 0
paths to the root