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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)
ClinVar Annotator: match by term: Aneurysms
ClinVar PMID:30311386, 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, PMID:30311386 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 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: RGD PMID:15010288 RGD:10450246 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 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 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 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 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 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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:30311386 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: 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 dilatation
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:30311386, 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 Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:30311386 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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 Annotator: match by term: Ascending aortic dilation
ClinVar PMID:26017485, PMID:28492532, PMID:30311386 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
ClinVar Annotator: match by term: Aortic dilatation
ClinVar Annotator: match by term: Aortic aneurysm
CTD
ClinVar
PMID:21217753, PMID:25741868, PMID:28492532, PMID:29543232, PMID:29907982, PMID:30311386 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, PMID:30311386 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 ClinVar Annotator: match by term: Aortic aneurysm
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16885183, PMID:30311386, 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 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 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:27432961, 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 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 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:29907982, PMID:29961567, PMID:30311386, 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:30311386, 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:28659821, PMID:28855619, PMID:29300374, PMID:29687370, PMID:29907982, PMID:30311386 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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 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 aneurysm, familial thoracic 7
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
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: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 Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Intracranial aneurysm ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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, PMID:30311386 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:30311386 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:19159394, 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:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28152038, 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 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:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, 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:3536967, PMID:4750422, PMID:7611299, PMID:7951214, PMID:7977366, PMID:8406497, PMID:8541880, PMID:8563763, 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: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:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15032979, PMID:15054843, PMID:15161917, PMID:15241795, PMID:15583982, PMID:15733436, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, 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:20375004, PMID:20564469, PMID:20591885, PMID:20886638, PMID:20979188, PMID:21332468, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22262941, PMID:22393277, PMID:22539873, PMID:22772377, PMID:22913777, PMID:23133647, PMID:23278365, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24635535, PMID:24665001, PMID:24793577, PMID:24833718, PMID:25053872, PMID:25101912, PMID:25652356, PMID:25656438, PMID:25736269, PMID:25741868, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, 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:30311386, PMID:30371227, PMID:30675029, PMID:30739908 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: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:29717556, 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:30311386, 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: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
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:28492532, PMID:29300374, PMID:30311386 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:30311386, 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 Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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:7833919, PMID:8218237, PMID:8514866, PMID:8990011, PMID:9557891, PMID:9712532, PMID:10706896, PMID:11577371, PMID:18043893, PMID:18272325, PMID:19344236, PMID:19424605, PMID:19455184, PMID:20518783, PMID:21086191, PMID:21520333, PMID:21637106, PMID:21984974, PMID:22001912, PMID:22019127, PMID:23148498, PMID:23688910, 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:26666608, PMID:26854089, PMID:27011056, PMID:27153395, PMID:27306637, PMID:27888582, PMID:27964749, PMID:28492532, PMID:28655553, PMID:28742248, PMID:28748566, PMID:29543232, PMID:30115950, PMID:30122538, PMID:30311386, PMID:30374176, PMID:30379966, PMID:30793832, PMID:30919682, 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:30311386 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, PMID:30311386 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 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 aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
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:28847661, PMID:28855619, PMID:28941062, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29768367, PMID:29848614, PMID:29907982, PMID:30255099, PMID:30311386, PMID:30653986, PMID:30675029, PMID:30739908, PMID:30775854, PMID:31008308, PMID:31098894, PMID:31163209, PMID:31211626, PMID:31227806, 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:29907982, PMID:29961567, PMID:30311386, 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:30311386, 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:30311386, PMID:30661052, PMID:30675029 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:27146957, PMID:27153395, PMID:27443514, PMID:28196074, PMID:28199989, PMID:28492532, PMID:28726808, PMID:28873162, PMID:29069792, PMID:30842500 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, PMID:30311386 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 aneurysm and aortic dissection
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
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:19159394, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:23142374, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, 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:27558455, PMID:27611364, PMID:27879313, PMID:28152038, PMID:28492532, PMID:28655553, PMID:30675029, 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 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          Aneurysm 149
            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 + 121
            coronary aneurysm 5
            heart aneurysm + 5
            intracranial aneurysm + 31
            retinal microaneurysm 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.