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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;   RDO:0000744
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 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Aneurysms ClinVar PMID:29979980 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aneurysms ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aneurysms ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21742783 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Aneurysms ClinVar PMID:10712197 PMID:19449407 PMID:23913538 PMID:28492532 PMID:32581362 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903 		JBrowse link
G Nox4 NADPH oxidase 4 IEP RGD PMID:19620512 RGD:2324659 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: ANEURYSMS ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:11567232 RGD:1581391 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aneurysm ClinVar PMID:16791849 PMID:17061023 PMID:18781618 PMID:24033266 PMID:24793577 PMID:25741868 PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism		 CTD PMID:22539767, PMID:18451329 RGD:5147451 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077 		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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204 		JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		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 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		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 chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070 		JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:14,889,263...15,060,286
Ensembl chr 3:14,889,510...15,060,286 		JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:93,176,257...93,216,484
Ensembl chr 3:93,178,163...93,216,495 		JBrowse link
G Eln elastin treatment ISO
IDA		 RGD PMID:15944607, PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705 		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 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411 		JBrowse link
G Kng1 kininogen 1 IMP RGD PMID:15238617 RGD:1302825 NCBI chr11:81,421,672...81,444,466
Ensembl chr11:81,421,676...81,444,621 		JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023, PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493 		JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607, PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018 		JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:19010778, PMID:15300177, PMID:11877705 RGD:1582579, RGD:1582584 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association		 IEP
IDA
ISO		 RGD PMID:20016209, PMID:21256058, PMID:24484904, PMID:15238617, PMID:16458924, PMID:15300177 RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579 		JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074, PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702 		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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013 		JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297, PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631 		JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO		 mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism		 CTD PMID:17196988, PMID:17196988 RGD:1625699 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467 		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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313 		JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		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 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS MouseDO NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420 		JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Aortic aneurysm
DNA:missense mutation:cds:p.C1039G (mouse)		 ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30739908, PMID:7762551, PMID:24071006 RGD:1300362, RGD:7365039 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		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:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715 		JBrowse link
G Klf15 Kruppel-like factor 15 ISS MouseDO NCBI chr 4:122,364,688...122,377,690
Ensembl chr 4:122,365,093...122,377,659 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		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 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740, PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448 		JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:18313409 RGD:2299005 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183, PMID:18313409 RGD:2299005 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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: Familial abdominal aortic aneurysm 1 ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		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 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		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:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302 		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 PMID:9157944 PMID:9484998 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:16250003 PMID:17094996 PMID:17765246 PMID:18677035 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:21722902 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:25741868 PMID:27765764 PMID:28492532 PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903 		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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15548583 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:84,018,857...84,040,433
Ensembl chr 1:84,018,859...84,040,433 		JBrowse link
G Mill1 MHC I like leukocyte 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10899738 NCBI chr 1:79,631,266...79,657,943
Ensembl chr 1:79,631,668...79,657,941 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO RGD PMID:12103254 RGD:1582363 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493 		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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8757037 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15561045 RGD:1582530 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772368 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027248 PMID:16885183 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		JBrowse link
Familial Thoracic Aortic Aneurysm 1 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: Familial Thoracic Aortic Aneurysm ClinVar NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 PMID:10633129 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17418587 PMID:17618372 PMID:17627385 PMID:17657824 PMID:18435798 PMID:19161152 PMID:19293843 PMID:19618372 PMID:19863550 PMID:20082464 PMID:21542060 PMID:21895641 PMID:23506379 PMID:23577066 PMID:24033266 PMID:24793577 PMID:24941995 PMID:25101912 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26621581 PMID:26787436 PMID:27112580 PMID:27153395 PMID:27582083 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 PMID:30371227 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1		 ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm ClinVar NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1		 ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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: Aortic aneurysm, familial thoracic 10		 ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:30675029 PMID:32860008 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		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: Aortic aneurysm, familial thoracic 10		 ClinVar PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:32860008 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587 		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		 ClinVar
CTD
OMIM		 PMID:26854927 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656 		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 PMID:24020716 PMID:25644172 PMID:25741868 PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		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 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804 		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:27884122 PMID:28492532 PMID:29179725 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196 		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:27884122 PMID:28492532 PMID:29179725 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243 		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 chr10:3,411,380...3,570,689
Ensembl chr10:3,411,380...3,570,688 		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 chr10:730,215...751,061
Ensembl chr10:730,247...751,061 		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 chr10:908,806...953,481
Ensembl chr10:908,806...953,474 		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 chr10:3,321,488...3,359,219
Ensembl chr10:3,321,476...3,357,470 		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 OMIM:132900		 OMIM
ClinVar		 PMID:7923625 PMID:10199307 PMID:10854329 PMID:11249915 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:20734336 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:22511748 PMID:22955375 PMID:22968129 PMID:23099432 PMID:23142374 PMID:23696586 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25839328 PMID:26000489 PMID:26017485 PMID:26077850 PMID:26133393 PMID:26188975 PMID:26332594 PMID:26436109 PMID:26467025 PMID:26792327 PMID:27081537 PMID:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27879251 PMID:27884122 PMID:28074631 PMID:28074886 PMID:28492532 PMID:28659821 PMID:28855619 PMID:29179725 PMID:29494672 PMID:29510914 PMID:29543232 PMID:29650765 PMID:29907982 PMID:29961567 PMID:32238909 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		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:16444274 PMID:18391202 PMID:20226094 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25500235 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:26467025 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27884122 PMID:28074631 PMID:28492532 PMID:28659821 PMID:29179725 PMID:29510914 PMID:29543232 PMID:29907982 PMID:32238909 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		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: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by OMIM:611788		 OMIM
ClinVar		 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20689142 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28855619 PMID:29300374 PMID:29687370 PMID:29907982 PMID:30341550 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Myh11 myosin heavy chain 11 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		 ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		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 chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		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 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		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
ClinVar Annotator: match by OMIM:613780		 OMIM
ClinVar		 PMID:11096123 PMID:16399953 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25333361 PMID:25637381 PMID:25741868 PMID:25944730 PMID:26017485 PMID:27146836 PMID:27153395 PMID:27586135 PMID:27879251 PMID:28254189 PMID:28401540 PMID:28492532 PMID:28512736 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29961567 PMID:30056620 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8
ClinVar Annotator: match by OMIM:615436		 OMIM
ClinVar		 PMID:16646045 PMID:23910461 PMID:25741868 PMID:27442293 PMID:27879251 PMID:28492532 PMID:29510914 PMID:29907982 NCBI chr 1:248,982,039...250,300,952 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 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IEP protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151 		JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 7:113,014,896...113,251,165
Ensembl chr 7:113,015,747...113,228,439 		JBrowse link
G Cst3 cystatin C IEP mRNA:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615 		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 chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446 		JBrowse link
G Ctss cathepsin S IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458 		JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		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 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655 		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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		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, PMID:16961137 RGD:2290352, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1642055, RGD:1582646 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 RGD PMID:21321533, PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Intracranial aneurysm		 ClinVar PMID:25741868, PMID:12842373 RGD:1580867 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:17569872 RGD:2290352 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072 		JBrowse link
G Tnf tumor necrosis factor treatment IMP RGD PMID:24628611 RGD:10450592 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842 		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 chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704 		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 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564 		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 PMID:16596670 PMID:17324963 PMID:21784848 PMID:24199744 PMID:26796135 PMID:27914124 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		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 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22772368 PMID:24033266 PMID:24711937 PMID:25741868 PMID:28492532 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22772368 PMID:23102774 PMID:24465802 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		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		 CTD
ClinVar		 PMID:7737999 PMID:23824657 PMID:23861362 PMID:24238504 PMID:24798638 PMID:25136781 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28166282 PMID:28240702 PMID:28492532 PMID:29247119 PMID:29392890 PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:20358619 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:22772368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28492532 PMID:28655553 PMID:31624717 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz Syndrome		 ClinVar
CTD		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20358619 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28492532 PMID:28659821 PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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 ClinVar
OMIM		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16928994 PMID:17652900 PMID:18070134 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28492532 PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:18781618 PMID:19006214 PMID:22095581 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7611299 PMID:7951214 PMID:7977366 PMID:8406497 PMID:8541880 PMID:8791520 PMID:8894692 PMID:8941093 PMID:9241263 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9837823 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10647894 PMID:10756346 PMID:10874320 PMID:10942427 PMID:11068200 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11170092 PMID:11175294 PMID:11251996 PMID:11524736 PMID:11700157 PMID:11722462 PMID:11748851 PMID:11826022 PMID:11880731 PMID:11933199 PMID:11967553 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12700307 PMID:12938084 PMID:14695540 PMID:15032979 PMID:15054843 PMID:15161917 PMID:15241795 PMID:15583982 PMID:15733436 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16476890 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17253931 PMID:17418587 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17680538 PMID:17701892 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18471089 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19446531 PMID:19533785 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:20082464 PMID:20200614 PMID:20564469 PMID:20886638 PMID:21034599 PMID:21332468 PMID:21542060 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22262941 PMID:22393277 PMID:22539873 PMID:22772377 PMID:22913777 PMID:23684891 PMID:23719250 PMID:23744319 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24635535 PMID:24793577 PMID:24833718 PMID:25053872 PMID:25101912 PMID:25652356 PMID:25656438 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26272055 PMID:26333736 PMID:26621581 PMID:26770496 PMID:26787436 PMID:26899731 PMID:27112580 PMID:27146836 PMID:27175573 PMID:27234404 PMID:27353645 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28117189 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30371227 PMID:30675029 PMID:30739908 PMID:31098894 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by OMIM:610168
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2		 ClinVar
OMIM		 PMID:8246946 PMID:8317497 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16333834 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20358619 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22488992 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24220024 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27100340 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:29543232 PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		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:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423 		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
ClinVar Annotator: match by OMIM:613795		 OMIM
ClinVar		 PMID:15350224 PMID:16828225 PMID:21217753 PMID:21778426 PMID:21815248 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24804794 PMID:25644172 PMID:25741868 PMID:25944730 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,268,045...103,292,848
Ensembl chr13:103,268,068...103,292,854 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455 		JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,063,799...106,683,353
Ensembl chr13:106,463,368...106,683,436 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,684,300...105,824,405
Ensembl chr13:105,684,420...105,815,606 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,637,967...102,643,376
Ensembl chr13:102,637,769...102,643,223 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,808,254...102,942,863
Ensembl chr13:102,808,253...102,942,863 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,250,576...103,250,658
Ensembl chr13:103,250,576...103,250,658 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,693,679...102,724,120
Ensembl chr13:102,698,546...102,721,218 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,724,266...102,755,511
Ensembl chr13:102,724,348...102,756,174 		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 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,780,885...102,790,621
Ensembl chr13:102,780,877...102,790,639 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,155,824...105,178,907
Ensembl chr13:105,155,441...105,179,095 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,489,121...105,684,293
Ensembl chr13:105,489,074...105,684,374 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by OMIM:614816		 OMIM
ClinVar		 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:25046559 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:1631557 PMID:2618446 PMID:7737999 PMID:12529708 PMID:15639475 PMID:22943793 PMID:23824657 PMID:23861362 PMID:24238504 PMID:24798638 PMID:25136781 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28166282 PMID:28240702 PMID:28425089 PMID:28492532 PMID:29247119 PMID:29392890 PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329 		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:23824657 PMID:24798638 PMID:25136781 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28425089 PMID:28492532 PMID:29392890 PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533 		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 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22488992 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24220024 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27100340 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28492532 PMID:28659821 PMID:29543232 PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by OMIM:613834		 OMIM
ClinVar		 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:19409525 PMID:20734336 PMID:20970362 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:28492532 PMID:29300374 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		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 NCBI chr14:33,010,300...33,070,193
Ensembl chr14:33,010,300...33,070,190 		JBrowse link
thoracic aortic aneurysm 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: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
DNA:missense mutation, deletion:cds:
DNA:missense mutation, insertion:cds:
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20689142 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27611364 PMID:28492532 PMID:28659821 PMID:28855619 PMID:29300374 PMID:29687370 PMID:29907982, PMID:19639654, PMID:21212136 RGD:11069461, RGD:12879440 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280 		JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:28492532 NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:27632686 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:27632686 NCBI chr  X:157,319,042...157,331,204
Ensembl chr  X:157,319,046...157,331,204 		JBrowse link
G Col1a1 collagen type I alpha 1 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:16786509 PMID:25741868 PMID:28492532 PMID:29543232 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection		 ClinVar PMID:2049575 PMID:2235526 PMID:2349939 PMID:7695699 PMID:8218237 PMID:8514866 PMID:8990011 PMID:10706896 PMID:18043893 PMID:18272325 PMID:19344236 PMID:19424605 PMID:21086191 PMID:21520333 PMID:21984974 PMID:22001912 PMID:22019127 PMID:23148498 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:24951259 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25848751 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27306637 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28492532 PMID:28655553 PMID:28748566 PMID:29543232 PMID:29590070 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30793832 PMID:30919682 PMID:31531849 PMID:31719132 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712 		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:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:25741868 PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
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		 PMID:952872 PMID:1301946 PMID:1569206 PMID:1729284 PMID:1765782 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7611299 PMID:7738200 PMID:7762551 PMID:7802039 PMID:7870075 PMID:7896820 PMID:7911051 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8406497 PMID:8430317 PMID:8504310 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8880577 PMID:8882780 PMID:8894692 PMID:8941093 PMID:8988160 PMID:9101298 PMID:9150726 PMID:9241263 PMID:9338581 PMID:9338588 PMID:9362480 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9525872 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10647894 PMID:10679954 PMID:10694921 PMID:10721679 PMID:10756346 PMID:10766875 PMID:10874320 PMID:10930463 PMID:11068200 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11278305 PMID:11391655 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11829507 PMID:11875032 PMID:11933199 PMID:11967553 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12700307 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15733436 PMID:15821637 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16596670 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17242066 PMID:17253931 PMID:17324963 PMID:17418587 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19390640 PMID:19396033 PMID:19533785 PMID:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21909107 PMID:21932315 PMID:22005308 PMID:22140025 PMID:22262941 PMID:22539873 PMID:22736615 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23505274 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23744319 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24035709 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25320358 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25834947 PMID:25839328 PMID:25852444 PMID:25863307 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26410935 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26796135 PMID:26875674 PMID:27011056 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27160103 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27914124 PMID:27930701 PMID:28027854 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28117189 PMID:28254189 PMID:28301460 PMID:28387797 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28706299 PMID:28847661 PMID:28855619 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29907982 PMID:30255099 PMID:30341550 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30775854 PMID:31008308 PMID:31098894 PMID:31163209 PMID:31211626 PMID:31227806 PMID:31506931 PMID:31837199 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection		 ClinVar PMID:24033266 PMID:24833718 PMID:25741868 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections ClinVar PMID:22641149 NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:28492532 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased expression:aorta (human) RGD PMID:15561045, PMID:16820601 RGD:1582530, RGD:1582351 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta		 CTD PMID:16159824, PMID:16159824, PMID:20621845 RGD:1582608, RGD:5129489 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702 		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 PMID:16159824, PMID:16678588, PMID:16820601, PMID:20621845 RGD:1580554, RGD:1582351, RGD:5129489 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Myh11 myosin heavy chain 11 ISO
ISS		 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 aortic dissections
OMIM:132900 | OMIM:607086 | OMIM:607087 | OMIM:611788 | OMIM:613780 | OMIM:615436 | OMIM:617349		 ClinVar
MouseDO		 PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:20734336 PMID:22001912 PMID:22511748 PMID:22955375 PMID:22968129 PMID:23099432 PMID:23142374 PMID:23696586 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25839328 PMID:26000489 PMID:26017485 PMID:26077850 PMID:26133393 PMID:26188975 PMID:26332594 PMID:26436109 PMID:26792327 PMID:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27879251 PMID:28074631 PMID:28074886 PMID:28492532 PMID:28659821 PMID:28855619 PMID:29494672 PMID:29510914 PMID:29543232 PMID:29650765 PMID:29907982 PMID:29961567 PMID:32238909, PMID:16444274 RGD:1580903 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Mylk myosin light chain kinase ISO
ISS		 ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
OMIM:132900 | OMIM:607086 | OMIM:607087 | OMIM:611788 | OMIM:613780 | OMIM:615436 | OMIM:617349		 ClinVar
MouseDO		 PMID:16399953 PMID:21055718 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25944730 PMID:27879251 PMID:28492532 PMID:28512736 PMID:29350269 PMID:29543232 PMID:29907982 PMID:29961567 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection		 ClinVar PMID:16444274 PMID:18391202 PMID:20226094 PMID:22001912 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25500235 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27611364 PMID:28074631 PMID:28492532 PMID:28659821 PMID:29510914 PMID:29543232 PMID:29907982 PMID:32238909 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection		 ClinVar PMID:16729972 PMID:17662764 PMID:18593716 PMID:21457232 PMID:24033266 PMID:24728327 PMID:25587027 PMID:25741868 PMID:25907466 PMID:26188975 PMID:26820064 PMID:28387797 PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO
ISS		 ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
OMIM:132900 | OMIM:607086 | OMIM:607087 | OMIM:611788 | OMIM:613780 | OMIM:615436 | OMIM:617349		 ClinVar
MouseDO		 PMID:28492532 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Robo4 roundabout guidance receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		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 PMID:17935213 PMID:24033266 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:10092624 PMID:11224571 PMID:11779503 PMID:15235019 PMID:15350224 PMID:16828225 PMID:20101697 PMID:21217753 PMID:21778426 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24804794 PMID:25644172 PMID:25741868 PMID:25944730 PMID:26133393 PMID:26333736 PMID:26633542 PMID:26854089 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29444731 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30675029 PMID:31096651 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:10790223 PMID:15288293 PMID:21835029 PMID:22703879 PMID:23399955 PMID:24465802 PMID:24728327 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26580448 PMID:27146957 PMID:27153395 PMID:27443514 PMID:28196074 PMID:28492532 PMID:28726808 PMID:28873162 PMID:29069792 PMID:29212164 PMID:30842500 PMID:31159747 PMID:32573726 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:28492532 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections		 ClinVar PMID:7737999 PMID:23824657 PMID:23861362 PMID:24238504 PMID:24798638 PMID:25136781 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28240702 PMID:28492532 PMID:29392890 PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 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 aortic dissections		 ClinVar PMID:2647812 PMID:5173258 PMID:8499949 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23142374 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25260786 PMID:25326635 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26017485 PMID:26848186 PMID:26877057 PMID:27011056 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27558455 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28492532 PMID:28655553 PMID:30675029 PMID:31624717 PMID:31837199, PMID:18313409 RGD:2299005 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm, thoracic		 ClinVar
CTD		 PMID:7664267 PMID:7862150 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 PMID:10789724 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17599521 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20829218 PMID:20838339 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21524434 PMID:21949523 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25925954 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28492532 PMID:28659821 PMID:29168297 PMID:29339704 PMID:29543232 PMID:30158670 PMID:30341550 PMID:30675029, PMID:18313409 RGD:2299005 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr14:3,506,416...3,680,508
Ensembl chr14:3,506,339...3,682,545 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      cardiovascular system disease 4371
        vascular disease 3309
          Aneurysm 157
            Aberrant Subclavian Artery 0
            Aneurysm, Infected 0
            Aneurysm, Ruptured + 7
            Dissecting Aneurysm + 38
            Endoleak 0
            False Aneurysm 0
            Iliac Aneurysm 0
            Retinal Arterial Macroaneurysm + 1
            aortic aneurysm + 128
            heart aneurysm + 5
            intracranial aneurysm + 30
            retinal microaneurysm 0
paths to the root