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G |
Aagab |
alpha- and gamma-adaptin binding protein |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:21778426 PMID:24804794 PMID:28492532 |
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NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections DNA:missense mutation, deletion:cds: DNA:missense mutation, insertion:cds: |
CTD ClinVar RGD |
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:16199547 PMID:17576681 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20689142 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22001912 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25504618 PMID:25557781 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27146836 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27611364 PMID:27879251 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28848449 PMID:28855619 PMID:29202781 PMID:29300374 PMID:29543232 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30341550 PMID:31731876 PMID:31911919 PMID:32093627 PMID:32464348 PMID:32544455 PMID:33513575 PMID:33824467 PMID:34422331 PMID:35754816 PMID:36053285 PMID:36440024 PMID:37042257 PMID:19639654 PMID:21212136 More...
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RGD:11069461, RGD:12879440 |
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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IEP |
protein:increased expression:aorta |
RGD |
PMID:20621845 |
RGD:5129489 |
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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IEP |
protein:increased expression:aorta |
RGD |
PMID:20621845 |
RGD:5129489 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:21358634 PMID:28492532 |
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NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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G |
Anp32b |
acidic nuclear phosphoprotein 32 family member B |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717
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G |
Arih1 |
ariadne RBR E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:27632686 |
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:27632686 |
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Blk |
BLK proto-oncogene, Src family tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:32748548 |
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NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 PMID:7581402 PMID:7611293 PMID:7635485 PMID:7762555 PMID:7967489 PMID:7981678 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8744616 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8940285 PMID:9156316 PMID:9361025 PMID:9536098 PMID:9587029 PMID:9675031 PMID:9708897 PMID:9790750 PMID:9813456 PMID:9864922 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10462600 PMID:10531322 PMID:10780316 PMID:10807759 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11524006 PMID:11553052 PMID:11748855 PMID:11774777 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12552044 PMID:12686134 PMID:12815602 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14739681 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 PMID:17576681 PMID:18201569 PMID:18280597 PMID:18454451 PMID:18708589 PMID:18805305 PMID:18950795 PMID:19232736 PMID:19370759 PMID:19429038 PMID:19819175 PMID:19906435 PMID:19914636 PMID:20031640 PMID:20066033 PMID:20308073 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20601281 PMID:20694756 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21308989 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22140583 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:24033266 PMID:24138954 PMID:24211323 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25331909 PMID:25336647 PMID:25516723 PMID:25741868 PMID:26132555 PMID:26464485 PMID:26750749 PMID:26990548 PMID:27243974 PMID:27604992 PMID:27681349 PMID:27861796 PMID:27959664 PMID:28097321 PMID:28152038 PMID:28303347 PMID:28421128 PMID:28488385 PMID:28492532 PMID:28550590 PMID:28583326 PMID:29158550 PMID:29205322 PMID:29352562 PMID:29590070 PMID:29650765 PMID:30019023 PMID:30050925 PMID:30165906 PMID:30202406 PMID:30380942 PMID:30556376 PMID:30873612 PMID:31139930 PMID:31211624 PMID:31301157 PMID:31664448 PMID:32000841 PMID:32232970 PMID:32245022 PMID:32769498 PMID:33057012 PMID:33223529 PMID:33335839 PMID:33985475 PMID:34426522 PMID:35281663 PMID:36588553 More...
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Col15a1 |
collagen type XV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections protein:increased expression:aorta (human) |
ClinVar RGD |
PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 PMID:30665703 PMID:31584903 PMID:29137225 More...
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RGD:401851087 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:1352273 PMID:1556139 PMID:1780712 PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:7665911 PMID:7695699 PMID:8098182 PMID:8218237 PMID:8514866 PMID:8680408 PMID:8881656 PMID:8884076 PMID:8990011 PMID:9036918 PMID:9143932 PMID:9399899 PMID:9536098 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11359405 PMID:12131463 PMID:12488462 PMID:16199547 PMID:16751282 PMID:17053184 PMID:17251678 PMID:17576681 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:19424605 PMID:19444361 PMID:19477391 PMID:20052764 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22065459 PMID:22492385 PMID:22713205 PMID:23148498 PMID:23234825 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25503501 PMID:25525159 PMID:25526469 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25848751 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26854089 PMID:27011056 PMID:27146836 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27488172 PMID:27888582 PMID:27964749 PMID:27975164 PMID:28035354 PMID:28087566 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28655553 PMID:28748566 PMID:29192238 PMID:29309923 PMID:29346445 PMID:29485843 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29790871 PMID:29907982 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30896870 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31531849 PMID:31600821 PMID:31719132 PMID:31833208 PMID:31903434 PMID:32461654 PMID:32483363 PMID:33087929 PMID:33125268 PMID:33282382 PMID:33628804 PMID:33726816 PMID:34047934 PMID:35092149 PMID:35406420 PMID:35699227 PMID:36103205 PMID:36977837 PMID:37042257 PMID:37086723 More...
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 PMID:9536098 PMID:10471441 PMID:10602121 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:16751282 PMID:17576681 PMID:19011090 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24951259 PMID:25326637 PMID:25741868 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:27959697 PMID:27975164 PMID:28074886 PMID:28166811 PMID:28454995 PMID:28492532 PMID:28550590 PMID:28748566 PMID:29578302 PMID:29924831 PMID:30467950 PMID:30858776 PMID:31064749 PMID:31239369 PMID:31625567 PMID:31903434 PMID:32508047 PMID:32581362 PMID:32938213 PMID:33206719 PMID:33726816 PMID:33737726 PMID:33914963 PMID:34041919 PMID:34265140 PMID:34422331 PMID:35723357 PMID:36411388 PMID:36973604 PMID:37079061 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31538843 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:33974636 PMID:34265140 PMID:37079061 More...
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NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
protein:increased expression:aorta (human) |
RGD |
PMID:29137225 |
RGD:401851087 |
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Coro2a |
coronin 2A |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
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G |
Ctsb |
cathepsin B |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:32748548 |
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NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
severity |
ISO |
mRNA:increased expression:aorta |
RGD |
PMID:16014397 |
RGD:5135442 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
severity |
ISO |
mRNA:increased expression:aorta |
RGD |
PMID:16014397 |
RGD:5135442 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
severity |
ISO |
mRNA:increased expression:aorta |
RGD |
PMID:16014397 |
RGD:5135442 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Defb30 |
defensin beta 30 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm |
ClinVar |
PMID:32748548 |
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NCBI chr15:37,294,713...37,298,474
Ensembl chr15:37,296,602...37,298,479
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G |
Defb44 |
defensin beta 44 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:32748548 |
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NCBI chr15:37,311,888...37,313,579
Ensembl chr15:37,312,308...37,313,370
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:21563328 PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 |
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NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Eln |
elastin |
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ISO |
ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 |
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Erp44 |
endoplasmic reticulum protein 44 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
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G |
Fas |
Fas cell surface death receptor |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
|
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fbn1 |
fibrillin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
CTD ClinVar |
PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 PMID:1301946 PMID:1413547 PMID:1438159 PMID:1569206 PMID:1729284 PMID:1765782 PMID:1852206 PMID:1852208 PMID:2005308 PMID:2030732 PMID:2254511 PMID:2796200 PMID:3212331 PMID:3495735 PMID:3536967 PMID:3762201 PMID:4750422 PMID:7606779 PMID:7611299 PMID:7738200 PMID:7762551 PMID:7802039 PMID:7870075 PMID:7896820 PMID:7911051 PMID:7951214 PMID:7977366 PMID:8004112 PMID:8040255 PMID:8040326 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8406497 PMID:8430317 PMID:8504310 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8863159 PMID:8880577 PMID:8882780 PMID:8884270 PMID:8894692 PMID:8941093 PMID:8988160 PMID:9016526 PMID:9101298 PMID:9150726 PMID:9236141 PMID:9241263 PMID:9338581 PMID:9338588 PMID:9362480 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9452085 PMID:9477945 PMID:9525872 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10229672 PMID:10425041 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10647894 PMID:10679954 PMID:10694921 PMID:10721679 PMID:10756346 PMID:10766875 PMID:10874320 PMID:11059536 PMID:11068200 PMID:11071382 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11170092 PMID:11175294 PMID:11251996 PMID:11278305 PMID:11315929 PMID:11391655 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11722462 PMID:11748851 PMID:11780406 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:15221638 PMID:15241795 PMID:15598221 PMID:15733436 PMID:15743917 PMID:15821637 PMID:15880509 PMID:15980072 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16476890 PMID:16571647 PMID:16596670 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17024364 PMID:17224687 PMID:17242066 PMID:17253931 PMID:17324963 PMID:17418587 PMID:17449467 PMID:17503327 PMID:17568394 PMID:17576681 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17680538 PMID:17701892 PMID:17718856 PMID:17726045 PMID:17850668 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18354149 PMID:18435798 PMID:18471089 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19117906 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19336958 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19390640 PMID:19396033 PMID:19446531 PMID:19533785 PMID:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20135580 PMID:20200614 PMID:20301500 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20803651 PMID:20886638 PMID:20979188 PMID:21034599 PMID:21063442 PMID:21135753 PMID:21270786 PMID:21332468 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21909107 PMID:21932315 PMID:22001912 PMID:22005308 PMID:22140025 PMID:22262941 PMID:22438950 PMID:22539873 PMID:22736615 PMID:22772377 PMID:22876116 PMID:22913777 PMID:22950452 PMID:23133647 PMID:23142374 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:24078565 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24311428 PMID:24339047 PMID:24501682 PMID:24504995 PMID:24564502 PMID:24568996 PMID:24613577 PMID:24635535 PMID:24665001 PMID:24698609 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24928929 PMID:24941995 PMID:24982166 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25525159 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25656438 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25834947 PMID:25839328 PMID:25852444 PMID:25863307 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25966184 PMID:25974703 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26040324 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26281765 PMID:26332594 PMID:26333736 PMID:26380986 PMID:26410935 PMID:26423924 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26633542 PMID:26684006 PMID:26741492 PMID:26764160 PMID:26770496 PMID:26787436 PMID:26796135 PMID:26875674 PMID:26899731 PMID:26928463 PMID:27011056 PMID:27058611 PMID:27087445 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27160103 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27274304 PMID:27323140 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27479044 PMID:27558095 PMID:27582083 PMID:27611364 PMID:27625872 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27914124 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28027854 PMID:28050602 PMID:28054583 PMID:28087566 PMID:28098115 PMID:28117189 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28277377 PMID:28301460 PMID:28321935 PMID:28333917 PMID:28387797 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28611029 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28706299 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28944857 PMID:28973303 PMID:28991257 PMID:29168297 PMID:29191498 PMID:29192238 PMID:29198452 PMID:29357934 PMID:29386531 PMID:29453956 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30019023 PMID:30032985 PMID:30056620 PMID:30057829 PMID:30087447 PMID:30115950 PMID:30192042 PMID:30255099 PMID:30286810 PMID:30341550 PMID:30371227 PMID:30471092 PMID:30485715 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30775854 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31053375 PMID:31061752 PMID:31098894 PMID:31106028 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31279664 PMID:31296287 PMID:31322791 PMID:31350823 PMID:31471346 PMID:31506931 PMID:31536524 PMID:31538843 PMID:31589614 PMID:31605817 PMID:31708711 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31754721 PMID:31774634 PMID:31825148 PMID:31830381 PMID:31837199 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32381728 PMID:32431097 PMID:32531870 PMID:32655337 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:32989268 PMID:33030311 PMID:33059708 PMID:33064175 PMID:33082559 PMID:33100332 PMID:33174221 PMID:33200202 PMID:33230159 PMID:33243733 PMID:33282382 PMID:33394117 PMID:33436942 PMID:33448881 PMID:33483584 PMID:33495528 PMID:33711475 PMID:33735269 PMID:33775534 PMID:33824467 PMID:34006472 PMID:34008892 PMID:34122512 PMID:34135346 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34422331 PMID:34428338 PMID:34456093 PMID:34498425 PMID:34550612 PMID:34653508 PMID:34818515 PMID:34957211 PMID:35008861 PMID:35058154 PMID:35237611 PMID:35253369 PMID:35531120 PMID:35535697 PMID:35612688 PMID:35830949 PMID:35877578 PMID:35916808 PMID:35943490 PMID:36449672 PMID:36517271 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
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|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 PMID:9054436 PMID:9536098 PMID:11536364 PMID:11754102 PMID:12511552 PMID:16199547 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24035709 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27625873 PMID:27854218 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32277046 PMID:32461654 PMID:33435129 PMID:34008892 More...
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|
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Fdft1 |
farnesyl diphosphate farnesyl transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm |
ClinVar |
PMID:32748548 |
|
NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections protein:decreased expression:aorta (human) |
ClinVar RGD |
PMID:3265608 PMID:6019437 PMID:9536098 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16822260 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21320118 PMID:21836662 PMID:22076441 PMID:22465605 PMID:22522697 PMID:22740120 PMID:23032111 PMID:23487190 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29168297 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30391507 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:34863227 PMID:35000503 PMID:36110220 PMID:29137225 More...
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RGD:401851087 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Foxe1 |
forkhead box E1 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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G |
Foxe3 |
forkhead box E3 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29314435 More...
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NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
|
NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
|
NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32748548 |
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:22641149 PMID:25741868 PMID:28492532 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Hemgn |
hemogen |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669
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G |
Invs |
inversin |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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G |
Lox |
lysyl oxidase |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 PMID:22911823 PMID:22948781 PMID:23758270 PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 PMID:30675029 PMID:31211696 PMID:31459939 PMID:34281165 More...
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NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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G |
Mat2a |
methionine adenosyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:10405444 PMID:17334363 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26350204 PMID:26813965 PMID:27081531 PMID:27312080 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28882788 PMID:30006928 PMID:30729724 PMID:32779332 PMID:33023636 PMID:33244166 PMID:34008892 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Mfap5 |
microfibril associated protein 5 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25434006 PMID:25741868 PMID:28492532 PMID:33824467 |
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NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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G |
Miat |
myocardial infarction associated transcript |
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ISO |
mRNA:increased expression:thoracic aorta (human) |
RGD |
PMID:30989723 |
RGD:155260298 |
NCBI chr12:44,414,620...44,429,852
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G |
Mir140 |
microRNA 140 |
ameliorates |
ISO |
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RGD |
PMID:32678444 |
RGD:329347832 |
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G |
Mir145 |
microRNA 145 |
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ISO |
RNA:decreased expression:thoracic aorta (human) |
RGD |
PMID:30989723 |
RGD:155260298 |
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:15561045 PMID:16820601 |
RGD:1582530, RGD:1582351 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta |
CTD RGD |
PMID:16159824 PMID:16159824 PMID:20621845 |
RGD:1582608, RGD:5129489 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO IEP |
protein:decreased activity:aorta (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta |
CTD RGD |
PMID:16159824 PMID:16678588 PMID:16820601 PMID:20621845 |
RGD:1580554, RGD:1582351, RGD:5129489 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar RGD |
PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:20734336 PMID:21521776 PMID:21937134 PMID:22001912 PMID:22511748 PMID:22955375 PMID:22968129 PMID:23099432 PMID:23142374 PMID:23696586 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25110237 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25839328 PMID:25944730 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:28074631 PMID:28074886 PMID:28166811 PMID:28195393 PMID:28469501 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28855619 PMID:29494672 PMID:29510914 PMID:29543232 PMID:29575632 PMID:29650765 PMID:29907982 PMID:29961567 PMID:30122538 PMID:30675029 PMID:30684648 PMID:30739908 PMID:30885847 PMID:31024045 PMID:31473177 PMID:31664448 PMID:31731876 PMID:31785789 PMID:31916526 PMID:31977013 PMID:32233023 PMID:32238909 PMID:32368696 PMID:32600061 PMID:33083483 PMID:33726816 PMID:33824467 PMID:34422331 PMID:34498425 PMID:35276540 PMID:35372177 PMID:35393538 PMID:35830949 PMID:36763073 PMID:36973604 PMID:37298070 PMID:16444274 More...
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RGD:1580903 |
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25333361 PMID:25637381 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26854089 PMID:27146836 PMID:27153395 PMID:27586135 PMID:27854218 PMID:27879251 PMID:28074886 PMID:28139901 PMID:28166811 PMID:28254189 PMID:28391405 PMID:28492532 PMID:28512736 PMID:28855619 PMID:29269699 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29961567 PMID:30056620 PMID:30675029 PMID:30739908 PMID:30755392 PMID:31296287 PMID:32848021 PMID:33895855 PMID:34422331 PMID:34498425 PMID:36703223 PMID:36973604 PMID:37921548 More...
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Nans |
N-acetylneuraminate synthase |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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G |
Ncbp1 |
nuclear cap binding protein subunit 1 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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G |
Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 PMID:21937134 PMID:22001912 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25407000 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:26467025 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:28074631 PMID:28166811 PMID:28195393 PMID:28469501 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29510914 PMID:29543232 PMID:29575632 PMID:29907982 PMID:30122538 PMID:31473177 PMID:31664448 PMID:31731876 PMID:31785789 PMID:31916526 PMID:31977013 PMID:32238909 PMID:32368696 PMID:32600061 PMID:34498425 PMID:35276540 PMID:35393538 PMID:35830949 PMID:36763073 PMID:36973604 More...
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Neil2 |
nei-like DNA glycosylase 2 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm |
ClinVar |
PMID:32748548 |
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NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:15472075 PMID:16025100 PMID:16199547 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20007775 PMID:20951801 PMID:20981092 PMID:21457232 PMID:21642962 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22225590 PMID:22858860 PMID:23040356 PMID:23086750 PMID:23578328 PMID:23734977 PMID:23860447 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25132448 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27760138 PMID:27854218 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28776427 PMID:28963436 PMID:28991257 PMID:29641532 PMID:29706348 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30255099 PMID:30293987 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31866570 PMID:32720365 PMID:32748548 PMID:33064175 PMID:33208564 PMID:33247628 PMID:33630301 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34328347 PMID:34461831 PMID:34498425 PMID:35101336 PMID:35288444 PMID:35830949 PMID:36973604 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 PMID:10729709 PMID:10874315 PMID:11001813 PMID:14565595 PMID:16199547 PMID:16758144 PMID:17576681 PMID:21699693 PMID:22001912 PMID:25326635 PMID:25741868 PMID:28306225 PMID:28384719 PMID:28391405 PMID:28492532 PMID:29590070 PMID:32381727 PMID:32720365 PMID:33190788 PMID:34265140 PMID:35252061 PMID:36495030 PMID:36973604 More...
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Prkg1 |
protein kinase cGMP-dependent 1 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:24667040 PMID:25741868 PMID:26188975 PMID:27442293 PMID:27879251 PMID:28166811 PMID:28492532 PMID:29510914 PMID:29907982 PMID:33807627 More...
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NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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G |
Robo4 |
roundabout guidance receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:30455415 PMID:32748548 |
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NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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G |
Sec61b |
SEC61 translocon subunit beta |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
mRNA:increased expression:aorta: |
RGD |
PMID:23814118 |
RGD:13208504 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 PMID:19112531 PMID:21699693 PMID:23023332 PMID:23103230 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:29543232 PMID:31322791 PMID:31754721 PMID:33416497 PMID:33824467 More...
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:9536098 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18774132 PMID:19028722 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23494979 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:26376865 PMID:27153185 PMID:28492532 PMID:28726533 PMID:28829359 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:33144682 PMID:34498425 PMID:34668355 PMID:34847858 PMID:35918752 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Smad2 |
SMAD family member 2 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16199547 PMID:16828225 PMID:17576681 PMID:17725494 PMID:20851114 PMID:21217753 PMID:21778426 PMID:21815248 PMID:21835029 PMID:21949838 PMID:22167769 PMID:23139211 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25555948 PMID:25640679 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26221609 PMID:26333736 PMID:26633542 PMID:26854089 PMID:27457343 PMID:27724990 PMID:27986426 PMID:28185953 PMID:28391405 PMID:28492532 PMID:29392890 PMID:29444731 PMID:29510914 PMID:29543232 PMID:29650765 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30675029 PMID:30739908 PMID:30787465 PMID:31085000 PMID:31096651 PMID:31098894 PMID:31329162 PMID:31915033 PMID:32154675 PMID:32597575 PMID:33059708 PMID:33125268 PMID:34122524 PMID:34434896 PMID:36495030 More...
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10441006 PMID:10479724 PMID:10647180 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:10822381 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11920286 PMID:12686552 PMID:12740389 PMID:12821112 PMID:14526373 PMID:14647410 PMID:14715079 PMID:14750902 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15350224 PMID:15637079 PMID:15754356 PMID:15799969 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17362581 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18178612 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20147459 PMID:20301642 PMID:20685751 PMID:21153778 PMID:21465659 PMID:21835029 PMID:21898662 PMID:22158539 PMID:22316667 PMID:22331366 PMID:22561520 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22826269 PMID:22843233 PMID:22875147 PMID:23139211 PMID:23239472 PMID:23399955 PMID:23559152 PMID:23805858 PMID:24033266 PMID:24312718 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24763289 PMID:24841914 PMID:24983367 PMID:25148578 PMID:25186627 PMID:25252015 PMID:25318351 PMID:25326637 PMID:25502805 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25742471 PMID:25931195 PMID:25980754 PMID:26171675 PMID:26387786 PMID:26467025 PMID:26572829 PMID:26580448 PMID:26614708 PMID:26619011 PMID:26633542 PMID:26681312 PMID:26689913 PMID:26845104 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27079212 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27611364 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28199989 PMID:28283864 PMID:28440963 PMID:28481359 PMID:28492532 PMID:28528518 PMID:28539465 PMID:28628100 PMID:28655553 PMID:28685087 PMID:28693246 PMID:28716708 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29069792 PMID:29212164 PMID:29234012 PMID:29634562 PMID:29684080 PMID:29707409 PMID:29743074 PMID:29955155 PMID:30210120 PMID:30256826 PMID:30267214 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31515488 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32068069 PMID:32165824 PMID:32300199 PMID:32459922 PMID:32573726 PMID:32944796 PMID:32973888 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33745841 PMID:33824467 PMID:34130653 PMID:34326862 PMID:35943490 PMID:36243179 More...
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:28492532 PMID:32748548 |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
Srfbp1 |
serum response factor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 PMID:22911823 PMID:22948781 PMID:23758270 PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 PMID:30675029 PMID:31211696 PMID:31459939 PMID:34281165 More...
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NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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G |
Stx17 |
syntaxin 17 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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G |
Tbc1d2 |
TBC1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352
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G |
Tdrd7 |
tudor domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
CTD ClinVar |
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9536098 PMID:9599222 PMID:10611753 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:22863191 PMID:23102774 PMID:24465802 PMID:24577266 PMID:25326637 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:28139901 PMID:28492532 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31915033 PMID:32277047 PMID:32307099 PMID:33125268 PMID:34363016 PMID:35205249 More...
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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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:9536098 PMID:9683588 PMID:17576681 PMID:23824657 PMID:23861362 PMID:24125834 PMID:24238504 PMID:24798638 PMID:25136781 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28087566 PMID:28166282 PMID:28240702 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:30675029 PMID:31568572 PMID:31898322 PMID:32746448 PMID:32897753 PMID:34659991 PMID:35819174 PMID:36973604 More...
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar RGD |
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 PMID:10025408 PMID:12499371 PMID:15731757 PMID:16199547 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17576681 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19159394 PMID:19542084 PMID:19561605 PMID:19763152 PMID:19839986 PMID:20307669 PMID:20332227 PMID:20813212 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22406018 PMID:22414221 PMID:23064905 PMID:23103230 PMID:23142374 PMID:23672593 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24792298 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25260786 PMID:25326635 PMID:25326637 PMID:25437144 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25640679 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26017485 PMID:26188975 PMID:26848186 PMID:26877057 PMID:27011056 PMID:27037046 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27508510 PMID:27558455 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27879313 PMID:28152038 PMID:28166811 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29510914 PMID:29543232 PMID:29706644 PMID:29907982 PMID:30087447 PMID:30219046 PMID:30513140 PMID:30675029 PMID:30701076 PMID:30739908 PMID:31279624 PMID:31475485 PMID:31569402 PMID:31624717 PMID:31837199 PMID:31915033 PMID:32339686 PMID:32352226 PMID:32778766 PMID:33059708 PMID:33256177 PMID:33436942 PMID:33824467 PMID:34456753 PMID:35092149 PMID:35830949 PMID:35903967 PMID:36237225 PMID:36584339 PMID:18313409 More...
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RGD:2299005 |
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7664267 PMID:7862150 PMID:8246946 PMID:8555189 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:10789724 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15299527 PMID:15731757 PMID:16027248 PMID:16199547 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:17576681 PMID:17599521 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20681224 PMID:20829218 PMID:20838339 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:21949523 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22489058 PMID:22563345 PMID:22734312 PMID:22772368 PMID:22772377 PMID:23099432 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25640679 PMID:25644172 PMID:25741868 PMID:25786579 PMID:25925954 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26301661 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27017362 PMID:27100340 PMID:27112580 PMID:27125181 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28166811 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675029 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31569402 PMID:31769227 PMID:31915033 PMID:32152251 PMID:32352226 PMID:32420711 PMID:32528524 PMID:32560555 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34422331 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35535697 PMID:35727495 PMID:36007983 PMID:36103205 PMID:37090272 PMID:18313409 More...
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RGD:2299005 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tgfbr3 |
transforming growth factor beta receptor 3 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341
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G |
Thsd4 |
thrombospondin type 1 domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:25741868 |
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NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
protein:decreased expression:aorta (human) |
RGD |
PMID:16820601 |
RGD:1582351 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Tmod1 |
tropomodulin 1 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
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G |
Trim14 |
tripartite motif-containing 14 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858
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G |
Trmo |
tRNA methyltransferase O |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423
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G |
Tstd2 |
thiosulfate sulfurtransferase like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916
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G |
Xpa |
XPA, DNA damage recognition and repair factor |
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ISO |
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Annuloaortic ectasia |
ClinVar |
PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 PMID:28492532 More...
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 PMID:10633129 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17418587 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:26272055 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27153395 PMID:27582083 PMID:27959697 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 PMID:29543232 PMID:30371227 PMID:31211626 PMID:31227806 PMID:31506931 PMID:32123317 PMID:35058154 PMID:35943490 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Foxe3 |
forkhead box E3 |
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ISO |
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:26854927 PMID:28492532 PMID:29314435 |
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NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
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G |
Lox |
lysyl oxidase |
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ISO |
ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 PMID:30675029 PMID:31211696 PMID:31459939 More...
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NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 PMID:33726816 More...
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Nde1 |
nudE neurodevelopment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:28492532 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Srfbp1 |
serum response factor binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm |
ClinVar |
PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 PMID:30675029 PMID:31211696 PMID:31459939 More...
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NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Annuloaortic ectasia |
ClinVar |
PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21270064 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28162229 PMID:28492532 PMID:30222965 PMID:34572573 More...
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|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Lox |
lysyl oxidase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related condition | ClinVar Annotator: match by term: LOX-related disorders |
OMIM CTD ClinVar |
PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29086201 PMID:29961567 PMID:30675029 PMID:31211624 PMID:31211696 PMID:31459939 PMID:31506931 PMID:32860008 PMID:33648514 PMID:34281165 More...
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|
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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G |
Srfbp1 |
serum response factor binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related condition | ClinVar Annotator: match by term: LOX-related disorders |
ClinVar |
PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29086201 PMID:29961567 PMID:30675029 PMID:31211624 PMID:31211696 PMID:31459939 PMID:31506931 PMID:32860008 PMID:33648514 PMID:34281165 More...
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|
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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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 OMIM CTD |
PMID:25741868 PMID:26854927 PMID:28492532 |
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NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
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G |
Thsd4 |
thrombospondin type 1 domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 |
OMIM ClinVar |
PMID:25741868 PMID:32855533 |
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NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
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G |
Acta2 |
actin alpha 2, smooth muscle |
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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 PMID:29907982 More...
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 |
ClinVar |
|
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 |
ClinVar |
|
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NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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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 |
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NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575
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Cep20 |
centrosomal protein 20 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 |
ClinVar |
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 |
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NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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Marf1 |
meiosis regulator and mRNA stability factor 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 |
ClinVar |
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 |
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NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753
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Mpv17l |
MPV17 mitochondrial inner membrane protein like |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 |
ClinVar |
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 |
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NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649
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Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:21521776 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:22511748 PMID:22955375 PMID:23099432 PMID:23142374 PMID:23696586 PMID:24033266 PMID:25110237 PMID:25407000 PMID:25433566 PMID:25500235 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25839328 PMID:25944730 PMID:26000489 PMID:26017485 PMID:26077850 PMID:26133393 PMID:26188975 PMID:26332594 PMID:26436109 PMID:26467025 PMID:27081537 PMID:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27879251 PMID:27884122 PMID:28074631 PMID:28074886 PMID:28166811 PMID:28367076 PMID:28469501 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28855619 PMID:29179725 PMID:29441698 PMID:29494672 PMID:29510914 PMID:29543232 PMID:29575632 PMID:29650765 PMID:29907982 PMID:29961567 PMID:30056620 PMID:30122538 PMID:30675029 PMID:30684648 PMID:30739908 PMID:30885847 PMID:31473177 PMID:31664448 PMID:31731876 PMID:31785789 PMID:31977013 PMID:32081817 PMID:32233023 PMID:32238909 PMID:32368696 PMID:32600061 PMID:33083483 PMID:33726816 PMID:33824467 PMID:34422331 PMID:34498425 PMID:35276540 PMID:35372177 PMID:35393538 PMID:35535697 PMID:35830949 PMID:36763073 PMID:36973604 PMID:37298070 More...
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25407000 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25944730 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:28166811 PMID:28367076 PMID:28469501 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29179725 PMID:29441698 PMID:29510914 PMID:29543232 PMID:29575632 PMID:29907982 PMID:30122538 PMID:31473177 PMID:31664448 PMID:31731876 PMID:31785789 PMID:31977013 PMID:32238909 PMID:32368696 PMID:32600061 PMID:34498425 PMID:35276540 PMID:35393538 PMID:35535697 PMID:35830949 PMID:36763073 PMID:36973604 More...
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:16199547 PMID:17576681 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22001912 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25504618 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27146836 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28074886 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28848449 PMID:28855619 PMID:29202781 PMID:29300374 PMID:29543232 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30056620 PMID:30341550 PMID:30739908 PMID:30975232 PMID:31731876 PMID:31911919 PMID:32093627 PMID:32464348 PMID:32544455 PMID:33513575 PMID:33824467 PMID:34422331 PMID:35567597 PMID:35754816 PMID:36053285 PMID:36440024 PMID:37042257 More...
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Ch25h |
cholesterol 25-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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Fas |
Fas cell surface death receptor |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Lipa |
lipase A, lysosomal acid type |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 PMID:27879313 PMID:28492532 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:21055718 PMID:28492532 PMID:28602422 |
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Ccdc14 |
coiled-coil domain containing 14 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Hacd2 |
3-hydroxyacyl-CoA dehydratase 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:21055718 PMID:28492532 PMID:28602422 |
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NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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Heg1 |
heart development protein with EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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Itgb5 |
integrin subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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Kalrn |
kalirin, RhoGEF kinase |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Muc13 |
mucin 13, cell surface associated |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 PMID:17576681 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25333361 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26854089 PMID:27146836 PMID:27153395 PMID:27586135 PMID:27879251 PMID:28074886 PMID:28139901 PMID:28254189 PMID:28391405 PMID:28401540 PMID:28492532 PMID:28512736 PMID:28602422 PMID:28855619 PMID:29269699 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29925964 PMID:29961567 PMID:30056620 PMID:30675029 PMID:30739908 PMID:30755392 PMID:31296287 PMID:31589614 PMID:32848021 PMID:33895855 PMID:34422331 PMID:34498425 PMID:36517271 PMID:36703223 PMID:36973604 More...
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Osbpl11 |
oxysterol binding protein-like 11 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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Ropn1 |
rhophilin associated tail protein 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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Slc12a8 |
solute carrier family 12, member 8 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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Snx4 |
sorting nexin 4 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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Umps |
uridine monophosphate synthetase |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Cstf2t |
cleavage stimulation factor subunit 2, tau variant |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 |
ClinVar |
PMID:25640679 PMID:28492532 |
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NCBI chr 1:228,952,617...228,956,183
Ensembl chr 1:228,952,504...228,955,873
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Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Mbl2 |
mannose binding lectin 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:228,016,439...228,024,736
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Prkg1 |
protein kinase cGMP-dependent 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16646045 PMID:17576681 PMID:23910461 PMID:24667040 PMID:25640679 PMID:25741868 PMID:26188975 PMID:27442293 PMID:27879251 PMID:28492532 PMID:29510914 PMID:29907982 PMID:33807627 More...
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NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Mfap5 |
microfibril associated protein 5 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 PMID:28550590 PMID:33824467 More...
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NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar OMIM |
PMID:2511639 PMID:2647812 PMID:10025408 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18070134 PMID:18455604 PMID:18781618 PMID:18852674 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:34270679 PMID:35092149 PMID:36237225 More...
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar |
PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 PMID:21484991 PMID:22095581 PMID:22113417 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30739908 PMID:32152251 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7611299 PMID:7951214 PMID:7977366 PMID:8004112 PMID:8406497 PMID:8541880 PMID:8791520 PMID:8894692 PMID:8941093 PMID:9241263 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9477945 PMID:9536098 PMID:9837823 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10647894 PMID:10756346 PMID:10874320 PMID:10942427 PMID:11068200 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11170092 PMID:11175294 PMID:11251996 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11722462 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11880731 PMID:11933199 PMID:11967553 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12700307 PMID:12938084 PMID:14695540 PMID:15032979 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15583982 PMID:15733436 PMID:15880509 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16476890 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 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:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20132243 PMID:20200614 PMID:20301510 PMID:20564469 PMID:20591885 PMID:20886638 PMID:21034599 PMID:21135753 PMID:21332468 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22262941 PMID:22393277 PMID:22539873 PMID:22772377 PMID:22913777 PMID:23278365 PMID:23684891 PMID:23719250 PMID:23744319 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24635535 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25525159 PMID:25644172 PMID:25652356 PMID:25656438 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26272055 PMID:26333736 PMID:26410935 PMID:26621581 PMID:26770496 PMID:26787436 PMID:26899731 PMID:27112580 PMID:27146836 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28642162 PMID:28650953 PMID:28855619 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30192042 PMID:30341550 PMID:30371227 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31098894 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31536524 PMID:31730815 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32679894 PMID:32989268 PMID:33174221 PMID:33200202 PMID:33394117 PMID:33483584 PMID:33711475 PMID:33824467 PMID:33844962 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34318135 PMID:34456093 PMID:34498425 PMID:34550612 PMID:35058154 PMID:35237611 PMID:35916808 PMID:37042257 PMID:37684520 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 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:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19816028 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25786579 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34008892 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35535697 PMID:35727495 PMID:36103205 PMID:37090272 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29247119 PMID:30327538 PMID:30975432 PMID:31983221 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9536098 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:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35535697 PMID:35727495 PMID:36103205 PMID:37090272 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30327538 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME |
OMIM ClinVar |
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17576681 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:21248741 PMID:21288906 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:28492532 PMID:28652363 PMID:28659821 PMID:29300374 PMID:31911919 PMID:36053285 More...
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Fas |
Fas cell surface death receptor |
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ISO |
ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome |
ClinVar |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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