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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:thoracic aortic aneurysm
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Accession:DOID:14004 term browser browse the term
Definition:An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
Synonyms:exact_synonym: Thoracic Aortic Aneurysms;   Thoracic Aortic Aneurysms and Aortic Dissections;   Thoracic Aortic Aneurysms and Dissections;   Thoracoabdominal Aortic Aneurysm;   thoracic aortic aneurysm and aortic dissection;   thoracoabdominal aortic aneurysms
 primary_id: MESH:D017545
 alt_id: RDO:0001722
 xref: NCI:C27001;   OMIM:PS607086;   ORDO:91387
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 aneurysm and aortic dissection
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:952872, PMID:1301946, PMID:1569206, PMID:1729284, PMID:1765782, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7738200, PMID:7762551, PMID:7802039, PMID:7870075, PMID:7896820, PMID:7911051, PMID:8004112, PMID:8040326, PMID:8281141, PMID:8406497, PMID:8430317, PMID:8504310, PMID:8541880, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8791520, PMID:8880577, PMID:8882780, PMID:8894692, PMID:8941093, PMID:8988160, PMID:9101298, PMID:9150726, PMID:9241263, PMID:9338581, PMID:9338588, PMID:9362480, PMID:9399842, PMID:9401003, PMID:9452085, PMID:9525872, PMID:9817919, PMID:9837823, PMID:9876915, PMID:10189222, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10633129, PMID:10647894, PMID:10679954, PMID:10694921, PMID:10721679, PMID:10756346, PMID:10766875, PMID:10874320, PMID:10930463, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11175294, PMID:11278305, PMID:11391655, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11829507, PMID:11875032, PMID:11933199, PMID:11967553, PMID:11992479, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15598221, PMID:15733436, PMID:15821637, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16571647, PMID:16596670, PMID:16677079, PMID:16756980, PMID:16765689, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17242066, PMID:17253931, PMID:17324963, PMID:17418587, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19059503, PMID:19089573, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19353630, PMID:19370756, PMID:19390640, PMID:19396033, PMID:19533785, PMID:19561590, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19802897, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21784848, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21909107, PMID:21932315, PMID:22005308, PMID:22140025, PMID:22262941, PMID:22539873, PMID:22736615, PMID:22772377, PMID:22950452, PMID:23133647, PMID:23278365, PMID:23505274, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24035709, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24199744, PMID:24311428, PMID:24564502, PMID:24635535, PMID:24665001, PMID:24740214, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25320358, PMID:25326635, PMID:25504618, PMID:25519456, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25834947, PMID:25839328, PMID:25852444, PMID:25863307, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26017485, PMID:26026792, PMID:26133393, PMID:26188975, PMID:26214305, PMID:26269718, PMID:26272055, PMID:26332594, PMID:26333736, PMID:26410935, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26787436, PMID:26796135, PMID:26875674, PMID:27011056, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27160103, PMID:27175573, PMID:27229674, PMID:27234404, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27647783, PMID:27724990, PMID:27854218, PMID:27906200, PMID:27914124, PMID:27930701, PMID:28027854, PMID:28050602, PMID:28087566, PMID:28098115, PMID:28117189, PMID:28254189, PMID:28301460, PMID:28387797, PMID:28492532, PMID:28497567, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28706299, PMID:28847661, PMID:28855619, PMID:28941062, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29768367, PMID:29848614, PMID:29907982, PMID:30255099, PMID: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, PMID:31042466 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, PMID:32573726 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:28492532 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection ClinVar PMID:24033266, PMID:25741868, PMID:26838787, PMID:27432961 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:22772371, PMID:23102774, PMID:24465802, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, 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
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, PMID:31042466 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868, PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm ClinVar NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1
ClinVar PMID:8246946, PMID:11212236, PMID:16791849, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17344846, PMID:17935258, PMID:18781618, PMID:21524434, PMID:24033266, PMID:24055113, PMID:24793577, PMID:24941995, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27930701, PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:26838787, PMID:27432961, PMID:28492532, PMID:30675029, PMID:32860008 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar PMID:24033266, PMID:25741868, PMID:26838787, PMID:27432961, PMID:32860008 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
Familial Thoracic Aortic Aneurysm 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:26854927 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018, PMID:19409525, PMID:19639654, PMID:21212136, PMID:21248741, PMID:24020716, PMID:25644172, PMID:25741868, PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:3,411,380...3,570,689
Ensembl chr10:3,411,380...3,570,688
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:908,806...953,481
Ensembl chr10:908,806...953,474
JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:3,321,488...3,359,219
Ensembl chr10:3,321,476...3,357,470
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar Annotator: match by OMIM:132900
OMIM
ClinVar
PMID:7923625, PMID:10199307, PMID:10854329, PMID:11249915, PMID:14722581, PMID:16444274, PMID:17666408, PMID:17956658, PMID:18391202, PMID:18796164, PMID:20226094, PMID:20734336, PMID:21698135, PMID:21937134, PMID:22001912, PMID:22318994, PMID:22511748, PMID:22955375, PMID:22968129, PMID:23099432, PMID:23142374, PMID:23696586, PMID:24033266, PMID:24337657, PMID:24676022, PMID:25407000, PMID:25424711, PMID:25433566, PMID:25500235, PMID:25637381, PMID:25741868, PMID:25839328, PMID:26000489, PMID:26017485, PMID:26077850, PMID:26133393, PMID:26188975, PMID:26332594, PMID:26436109, PMID:26467025, PMID:26792327, PMID:27081537, PMID:27146836, PMID:27149842, PMID:27153395, PMID:27367753, PMID:27418595, PMID:27611364, PMID:27879251, PMID:27884122, PMID:28074631, PMID:28074886, PMID:28492532, PMID:28659821, PMID:28855619, PMID:29179725, PMID:29494672, PMID:29510914, PMID:29543232, PMID: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: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
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 Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar PMID:25500235, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235, PMID:25637381, PMID:25741868 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868, PMID:27879313, PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
ClinVar Annotator: match by OMIM:613780
OMIM
ClinVar
PMID:11096123, PMID:16399953, PMID:21055718, PMID:24033266, PMID:25326637, PMID:25333361, PMID:25637381, PMID:25741868, PMID:25944730, PMID:26017485, PMID:27146836, PMID:27153395, PMID:27586135, PMID:27879251, PMID:28401540, PMID:28492532, PMID:28512736, PMID:29350269, PMID:29543232, PMID:29544503, PMID:29907982, PMID:29961567, PMID:30056620, PMID:31042466 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
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:3495735, 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, 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      cardiovascular system disease 4425
        vascular disease 3355
          Aneurysm 158
            aortic aneurysm 130
              thoracic aortic aneurysm 56
                Cystic Medial Necrosis of Aorta 0
                Familial Thoracic Aortic Aneurysm 1 10
                Familial Thoracic Aortic Aneurysm 10 2
                Familial Thoracic Aortic Aneurysm 11 1
                Familial Thoracic Aortic Aneurysm 2 6
                Familial Thoracic Aortic Aneurysm 4 8
                Familial Thoracic Aortic Aneurysm 6 8
                Familial Thoracic Aortic Aneurysm 7 1
                Familial Thoracic Aortic Aneurysm 8 1
                Familial Thoracic Aortic Aneurysm 9 1
                Loeys-Dietz Syndrome, Type 1b 2
                Loeys-Dietz syndrome 1 2
                Loeys-Dietz syndrome 2 3
                Multisystemic Smooth Muscle Dysfunction Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      cardiovascular system disease 4425
        vascular disease 3355
          artery disease 2376
            aortic disease 612
              aortic aneurysm 130
                thoracic aortic aneurysm 56
                  Cystic Medial Necrosis of Aorta 0
                  Familial Thoracic Aortic Aneurysm 1 10
                  Familial Thoracic Aortic Aneurysm 10 2
                  Familial Thoracic Aortic Aneurysm 11 1
                  Familial Thoracic Aortic Aneurysm 2 6
                  Familial Thoracic Aortic Aneurysm 4 8
                  Familial Thoracic Aortic Aneurysm 6 8
                  Familial Thoracic Aortic Aneurysm 7 1
                  Familial Thoracic Aortic Aneurysm 8 1
                  Familial Thoracic Aortic Aneurysm 9 1
                  Loeys-Dietz Syndrome, Type 1b 2
                  Loeys-Dietz syndrome 1 2
                  Loeys-Dietz syndrome 2 3
                  Multisystemic Smooth Muscle Dysfunction Syndrome 2
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.