RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Aneurysm
Accession: DOID:9001665
browse the term
Definition: Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.
Synonyms: exact_synonym: Aneurysms; Fusiform Aneurysm; Fusiform Aneurysms; Saccular Aneurysm
primary_id: MESH:D000783
xref: EFO:0009659
For additional species annotation, visit the
Alliance of Genome Resources .
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Col3a1
collagen type III alpha 1 chain
ISO
DNA:snp:intron:IVS20+1G>A (human)
RGD
PMID:2349939
RGD:1300382
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: Aneurysm
ClinVar
PMID:29979980
NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Aneurysm
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Aneurysm
ClinVar
PMID:25741868
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Mbl2
mannose binding lectin 2
ISO
associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:16385529
RGD:1582153
NCBI chr 1:228,016,439...228,024,736
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21742783
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Nox4
NADPH oxidase 4
IEP
RGD
PMID:19620512
RGD:2324659
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Aneurysm
ClinVar
PMID:25741868
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:11567232
RGD:1581391
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:24602481
RGD:11039028
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin I converting enzyme 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25301841
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Adm
adrenomedullin
ISO
protein:increased expression:mast cell, abdominal aorta
RGD
PMID:16524566
RGD:1625299
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
ISO
mRNA:increased expression:abdominal aorta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22539767 PMID:18451329
RGD:5147451
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Apoe
apolipoprotein E
disease_progression
ISO
DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human)
RGD
PMID:10848855 PMID:10841519
RGD:1578483 , RGD:6903247
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Casp3
caspase 3
IEP
protein:increased expression:aorta (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Cav1
caveolin 1
ISO
associated with Hypertension
RGD
PMID:24329494
RGD:8661789
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
IEP
protein:increased expression:aorta
RGD
PMID:18482727
RGD:2307015
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Col11a1
collagen type XI alpha 1 chain
ISO
ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm
ClinVar
PMID:17182944
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Crp
C-reactive protein
ISO
protein:increased expression:plasma
RGD
PMID:30004237
RGD:13782270
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
severity
IEP
mRNA:increased expression:aorta: protein:decreased expression:serum (rat)
RGD
PMID:15010288 PMID:15238617
RGD:10450246 , RGD:1302825
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Dab2ip
DAB2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20622881
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Ehf
ets homologous factor
treatment
IMP
RGD
PMID:14662712
RGD:1581123
NCBI chr 3:89,639,845...89,680,061
Ensembl chr 3:89,641,833...89,679,997
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Eln
elastin
treatment
ISO IDA
RGD
PMID:15944607 PMID:18585885
RGD:1580157 , RGD:9585668
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Faslg
Fas ligand
IEP
protein:increased expression:aorta (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Ftl1
ferritin light chain 1
ISO
ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:12182912
RGD:1580455
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
IEP
protein:increased expression:serum (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
IEP
protein:decreased expression:serum (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1b
interleukin 1 beta
IEP
protein:decreased expression:serum (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Itgav
integrin subunit alpha V
ISO
RGD
PMID:16809548
RGD:1582446
NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Kng1
kininogen 1
IAGP
DNA:SNP:487G>A
RGD
PMID:15238617
RGD:1302825
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Lox
lysyl oxidase
IDA
RGD
PMID:10965315
RGD:1581887
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:16311603
RGD:1582313
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mmp1
matrix metallopeptidase 1
ISO
RGD
PMID:16293969
RGD:1582519
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp12
matrix metallopeptidase 12
no_association
ISO
RGD
PMID:16115023 PMID:16082623
RGD:1582355 , RGD:1582356
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp13
matrix metallopeptidase 13
no_association
ISO
RGD
PMID:15944607 PMID:15156361
RGD:1580157 , RGD:1582548
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp14
matrix metallopeptidase 14
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19010778 PMID:15300177 PMID:11877705
RGD:1582579 , RGD:1582584
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
treatment no_association
IEP IDA ISO
RGD
PMID:20016209 PMID:21256058 PMID:24484904 PMID:15238617 PMID:16458924 PMID:15300177 More...
RGD:2325698 , RGD:13207313 , RGD:8657104 , RGD:1302825 , RGD:1582621 , RGD:1582579
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
IEP
protein:increased expression:aorta (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp8
matrix metallopeptidase 8
severity
ISO
RGD
PMID:16432074 PMID:16432074
RGD:1582641 , RGD:1582641
NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
severity treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16432074 PMID:17196988 PMID:16432074 PMID:21256058
RGD:1582641 , RGD:1582641 , RGD:13207313
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:17398378
RGD:6893584
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myh11
myosin heavy chain 11
ISO
protein:increased expression:plasma
RGD
PMID:30004237
RGD:13782270
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16864727
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nono
non-POU domain containing, octamer-binding
ameliorates
ISO
RGD
PMID:31512366
RGD:155882451
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:aorta tunica media
RGD
PMID:15800493
RGD:1580261
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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P2ry12
purinergic receptor P2Y12
IMP
RGD
PMID:19028049
RGD:6480528
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30354818
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:11807372
RGD:1581024
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Postn
periostin
ISO
protein:increased expression:aorta:
RGD
PMID:24260297 PMID:24260297
RGD:10041046 , RGD:10041046
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514081
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism (human)
RGD
PMID:17182961
RGD:5147824
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:16879749
RGD:5147825
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sell
selectin L
IEP
RGD
PMID:15998669
RGD:5685707
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Serpine1
serpin family E member 1
IMP
RGD
PMID:20554458
RGD:4144856
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sod2
superoxide dismutase 2
IEP ISO
mRNA, protein:increased expression:aorta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17196988 PMID:17196988
RGD:1625699
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:decreased expression:aorta (rat)
RGD
PMID:15238617
RGD:1302825
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21925196
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:17182931
RGD:1626150
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Aoc3
amine oxidase, copper containing 3
IMP
RGD
PMID:16397885
RGD:2313928
NCBI chr10:86,272,757...86,280,702
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Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm
ClinVar
PMID:29689197
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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Atp7a
ATPase copper transporting alpha
ISS
MouseDO
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Aortic aneurysm
ClinVar
PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Aortic dilatation
ClinVar
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Efemp2
EGF containing fibulin extracellular matrix protein 2
ISS ISO
DNA:missense mutation:CDS:p.E161K (human)
MouseDO RGD
PMID:22440127
RGD:42722009
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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Eln
elastin
ISO
associated with Cutis Laxa;
RGD
PMID:16085695
RGD:9585744
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fbn1
fibrillin 1
severity
ISO
DNA:missense mutation:cds:p.G1127S (human) ClinVar Annotator: match by term: Ascending aortic dilation DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar RGD
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425 PMID:7762551 PMID:24071006 More...
RGD:1300362 , RGD:7365039
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Aortic dilatation
ClinVar
PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hdac4
histone deacetylase 4
ISO
mRNA:decreased expression:aorta:
RGD
PMID:19389706
RGD:9681448
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Aortic dilatation
ClinVar
PMID:25741868
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Klf15
KLF transcription factor 15
ISS
MouseDO
NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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Lox
lysyl oxidase
ISO
RGD
PMID:12417550
RGD:1581885
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Mir145
microRNA 145
disease_progression
ISO
miRNA:increased expression:aorta (human)
RGD
PMID:25465469
RGD:155260284
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10231640
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial aortic aneurysms
ClinVar
PMID:26017485 PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Ptger4
prostaglandin E receptor 4
ISO
RGD
PMID:22570740 PMID:22570740
RGD:6483518 , RGD:6483518
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Robo4
roundabout guidance receptor 4
ISO
ClinVar Annotator: match by term: Ascending aortic dilation
ClinVar
PMID:25741868 PMID:30455415
NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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Serpine1
serpin family E member 1
treatment
IMP
RGD
PMID:9697825
RGD:8547863
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Ski
Ski proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23023332
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aortic aneurysm
CTD ClinVar
PMID:21217753 PMID:25741868
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Spp1
secreted phosphoprotein 1
ISO
protein:increased expression:aorta (human)
RGD
PMID:25465469
RGD:155260284
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm
ClinVar
PMID:22772371 PMID:25741868 PMID:28492532
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
RGD
PMID:18313409
RGD:2299005
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Ascending aortic dilation CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16791849 PMID:16885183 PMID:17061023 PMID:18781618 PMID:24033266 PMID:24793577 PMID:25741868 PMID:28492532 PMID:32560555 PMID:18313409 More...
RGD:2299005
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm
ClinVar
PMID:25741868 PMID:27895300
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1
ClinVar
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Aortic aneurysm, giant congenital
ClinVar
PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2346371 PMID:25449986
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Edn2
endothelin 2
ISO
RGD
PMID:11947982
RGD:1580915
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension
RGD
PMID:9405681
RGD:737701
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16549638
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Internal carotid artery dissection
ClinVar
PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 PMID:9157944 PMID:9484998 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:16250003 PMID:17094996 PMID:17765246 PMID:18677035 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:21722902 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:25741868 PMID:27765764 PMID:28492532 PMID:29261184 PMID:29399563 PMID:31345425 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Internal carotid artery dissection
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum
RGD
PMID:22683371
RGD:8694456
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15548583
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Mmp12
matrix metallopeptidase 12
susceptibility
ISO
RGD
PMID:12103254
RGD:1582363
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17502491
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8757037
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Edn2
endothelin 2
ISO
RGD
PMID:11947982
RGD:1580915
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Mmp1
matrix metallopeptidase 1
ISO
RGD
PMID:15561045
RGD:1582530
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21217753
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772368
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16027248 PMID:16885183
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: AAT1
ClinVar
PMID:28492532
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 PMID:10633129 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17418587 PMID:17618372 PMID:17627385 PMID:17657824 PMID:18435798 PMID:19161152 PMID:19293843 PMID:19618372 PMID:19863550 PMID:20082464 PMID:21542060 PMID:21895641 PMID:23506379 PMID:23577066 PMID:24033266 PMID:24793577 PMID:24941995 PMID:25101912 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27153395 PMID:27582083 PMID:27959697 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 PMID:29543232 PMID:30371227 PMID:31053375 PMID:31211626 PMID:31227806 PMID:32123317 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:26854927 PMID:28492532 PMID:29314435
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:26838787 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26332594 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: AAT1
ClinVar
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar
PMID:26838787 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: AAT1
ClinVar
PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 More...
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders
OMIM ClinVar
PMID:12417550 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29086201 PMID:30675029 PMID:31211624 PMID:31506931 PMID:32860008 PMID:33648514 PMID:34281165 More...
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders
ClinVar
PMID:12417550 PMID:24033266 PMID:25017124 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29086201 PMID:30675029 PMID:31211624 PMID:31506931 PMID:32860008 PMID:33648514 PMID:34281165 More...
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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Foxe3
forkhead box E3
susceptibility
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26854927 PMID:28492532
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Thsd4
thrombospondin type 1 domain containing 4
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12
OMIM ClinVar
PMID:25741868 PMID:32855533
NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 PMID:24020716 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29907982 More...
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2
ClinVar
PMID:28492532
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Abcc1
ATP binding cassette subfamily C member 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar
PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 PMID:29575632 More...
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar
PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 PMID:29575632 More...
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Bmerb1
bMERB domain containing 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725
NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575
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Cep20
centrosomal protein 20
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar
PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 PMID:29575632 More...
NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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Marf1
meiosis regulator and mRNA stability factor 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725
NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753
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Mpv17l
MPV17 mitochondrial inner membrane protein like
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar
PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725
NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
OMIM ClinVar
PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11249915 PMID:14722581 PMID:16444274 PMID:17576681 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:20734336 PMID:21336785 PMID:21521776 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:22511748 PMID:22581552 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:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27854218 PMID:27879251 PMID:27884122 PMID:28074631 PMID:28166811 PMID:28195393 PMID:28367076 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:29980238 PMID:30122538 PMID:30675029 PMID:30739908 PMID:31473177 PMID:31664448 PMID:31785789 PMID:32233023 PMID:32238909 PMID:35535697 More...
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar
PMID:9536098 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25407000 PMID:25500235 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:26467025 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27854218 PMID:27884122 PMID:28074631 PMID:28166811 PMID:28195393 PMID:28367076 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:31785789 PMID:32238909 PMID:35535697 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
OMIM ClinVar
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 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:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 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:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28848449 PMID:28855619 PMID:29300374 PMID:29543232 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30341550 PMID:30975232 PMID:31911919 PMID:36053285 More...
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
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25500235 PMID:25637381 PMID:25741868
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:25741868
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
OMIM ClinVar
PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25333361 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26854089 PMID:27146836 PMID:27153395 PMID:27854218 PMID:27879251 PMID:28074886 PMID:28139901 PMID:28166811 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:29961567 PMID:30056620 PMID:31296287 PMID:33895855 More...
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Dkk1
dickkopf WNT signaling pathway inhibitor 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8
ClinVar
PMID:28492532
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Mbl2
mannose binding lectin 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8
ClinVar
PMID:28492532
NCBI chr 1:228,016,439...228,024,736
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Prkg1
protein kinase cGMP-dependent 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8
OMIM ClinVar
PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:25741868 PMID:27442293 PMID:27879251 PMID:28166811 PMID:28492532 PMID:29510914 PMID:29907982 More...
NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9
OMIM ClinVar
PMID:25434006 PMID:25741868 PMID:28492532
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ager
advanced glycosylation end product-specific receptor
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:23844137
RGD:8547935
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Aoc3
amine oxidase, copper containing 3
IEP
protein:decreased expression:cerebral artery
RGD
PMID:18312104
RGD:2313912
NCBI chr10:86,272,757...86,280,702
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Bcl2
BCL2, apoptosis regulator
treatment
ISO
RGD
PMID:25316629
RGD:11522723
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Ccl2
C-C motif chemokine ligand 2
IMP IEP
mRNA:increased expression:circle of Willis (rat)
RGD
PMID:19164781 PMID:25316629
RGD:2307000 , RGD:11522723
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Col1a2
collagen type I alpha 2 chain
ISO
RGD
PMID:14739420
RGD:1581199
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col22a1
collagen type XXII alpha 1 chain
susceptibility
ISO
DNA:SNPs:cds:multiple(human)
RGD
PMID:30541770
RGD:13831344
NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
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Cst3
cystatin C
IEP
mRNA:decreased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctsb
cathepsin B
ISO IEP
protein:increased expression:cerebral aneurysm (human) mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
RGD
PMID:18635848 PMID:18635848
RGD:2306495 , RGD:2306495
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsk
cathepsin K
IEP
mRNA:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Ctss
cathepsin S
IEP
mRNA:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Eln
elastin
ISO
RGD
PMID:15218274
RGD:1580328
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Eng
endoglin
ISO
RGD
PMID:10223461
RGD:1580964
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Brain aneurysm
ClinVar
PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 More...
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Il6
interleukin 6
ISO
RGD
PMID:16648144
RGD:1580488
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kmt2d
lysine methyltransferase 2D
susceptibility
ISO
DNA:SNP: :rs3782356(human)
RGD
PMID:30121816
RGD:155582216
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mmp12
matrix metallopeptidase 12
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:9724118
RGD:1582590
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
susceptibility
IEP ISO
mRNA:increased expression:blood vessel
RGD
PMID:17569872 PMID:16961137 PMID:9724118
RGD:2290352 , RGD:1582646 , RGD:1582590
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment susceptibility
IEP IDA ISO
mRNA:increased expression:blood vessel associated with Diabetes Mellitus, Experimental mRNA, protein:increased expression:artery
RGD
PMID:17569872 PMID:21937941 PMID:9310982 PMID:23844137 PMID:17122420 PMID:16961137 More...
RGD:2290352 , RGD:13204858 , RGD:13204853 , RGD:8547935 , RGD:1642055 , RGD:1582646
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381132
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nos1
nitric oxide synthase 1
ISO
RGD
PMID:21321533
RGD:5131897
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos3
nitric oxide synthase 3
IEP ISO
RGD
PMID:21321533 PMID:21321533
RGD:5131897 , RGD:5131897
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pkd1
polycystin 1, transient receptor potential channel interacting
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkd2
polycystin 2, transient receptor potential cation channel
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:21786025
RGD:6483795
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Sycp1
synaptonemal complex protein 1
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737
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Timp1
TIMP metallopeptidase inhibitor 1
IEP
RGD
PMID:17569872
RGD:2290352
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
IEP
mRNA:increased expression:blood vessel
RGD
PMID:17569872
RGD:2290352
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tnf
tumor necrosis factor
treatment
IMP
RGD
PMID:24628611
RGD:10450592
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcan
versican
ISO
DNA:SNP: :rs173686 (human)
RGD
PMID:16917090
RGD:1598495
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12
ClinVar OMIM
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 More...
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 PMID:16596670 PMID:21784848 PMID:24199744 PMID:26796135 PMID:27914124 PMID:28492532 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar
PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD ClinVar
PMID:9536098 PMID:17576681 PMID:21217753 PMID:22772368 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 More...
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD ClinVar
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9599222 PMID:10611753 PMID:16199547 PMID:22772368 PMID:22772371 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:32307099 More...
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD ClinVar
PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 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:28166811 PMID:28240702 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29907982 PMID:31568572 PMID:31898322 PMID:32897753 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD ClinVar
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:20358619 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:22772368 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 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:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28655553 PMID:29192238 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31624717 PMID:31915033 PMID:32339686 More...
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
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD ClinVar
PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:25786579 PMID:26017485 PMID:26133393 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:29168297 PMID:29543232 PMID:30158670 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 More...
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
OMIM ClinVar
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 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:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:30219046 PMID:30701076 PMID:31915033 PMID:32339686 PMID:34270679 More...
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
ISO
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:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30739908 PMID:32152251 More...
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
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar
PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 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: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: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:20200614 PMID:20301510 PMID:20564469 PMID:20591885 PMID:20886638 PMID:21034599 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: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:27234404 PMID:27274304 PMID:27353645 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28855619 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29543232 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:31536524 PMID:31730815 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32679894 PMID:32989268 PMID:33200202 PMID:33483584 PMID:33711475 PMID:34150014 PMID:34456093 PMID:34498425 PMID:34550612 PMID:35237611 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
OMIM ClinVar
PMID:8246946 PMID:8317497 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16333834 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19816028 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 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:26877057 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29543232 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675401 PMID:31098894 PMID:31769227 PMID:32420711 PMID:32528524 PMID:33083483 PMID:33726816 PMID:34008892 PMID:35535697 More...
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Tmpo
thymopoietin
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar
PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:30327538 More...
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
OMIM ClinVar
PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 PMID:21815248 PMID:21835029 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25944730 PMID:27724990 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30739908 PMID:30787465 PMID:31085000 PMID:31915033 PMID:32154675 PMID:33125268 More...
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar
PMID:25741868 PMID:27606499 PMID:28492532 PMID:30796334 PMID:32499606
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Aida
axin interactor, dorsalization associated
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
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Bpnt1
3'(2'), 5'-bisphosphate nucleotidase 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
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Brox
BRO1 domain and CAAX motif containing
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227
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Disp1
dispatched RND transporter family member 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:94,720,928...94,866,702
Ensembl chr13:94,720,928...94,866,702
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Dusp10
dual specificity phosphatase 10
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
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Eprs1
glutamyl-prolyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Esrrg
estrogen-related receptor gamma
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
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Fam177b
family with sequence similarity 177 member B
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:94,904,128...94,909,688
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Gpatch2
G patch domain containing 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:98,784,969...98,925,696
Ensembl chr13:98,784,969...98,925,661
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Hhipl2
HHIP like 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608
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Hlx
H2.0-like homeobox
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750
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Iars2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
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Kcnk2
potassium two pore domain channel subfamily K member 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
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Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Lyplal1
lysophospholipase-like 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28492532 PMID:28544325
NCBI chr13:97,626,451...97,657,901
Ensembl chr13:97,626,451...97,657,867
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Mark1
microtubule affinity regulating kinase 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
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Mia3
MIA SH3 domain ER export factor 3
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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Mir194-1
microRNA 194-1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
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Mtarc1
mitochondrial amidoxime reducing component 1
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
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Mtarc2
mitochondrial amidoxime reducing component 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,362,810...96,397,284
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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RGD1310587
similar to hypothetical protein FLJ14146
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
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Rrp15
ribosomal RNA processing 15 homolog
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370
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Slc30a10
solute carrier family 30, member 10
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Spata17
spermatogenesis associated 17
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929
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Taf1a
TATA-box binding protein associated factor, RNA polymerase I subunit A
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
OMIM ClinVar
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9599222 PMID:10611753 PMID:16199547 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24033266 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25326637 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:28139901 PMID:28492532 PMID:28544325 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31915033 PMID:32307099 PMID:34008892 More...
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 PMID:15639475 PMID:16199547 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:28166811 PMID:28240702 PMID:28425089 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29907982 PMID:31568572 PMID:31898322 PMID:32897753 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Ush2a
usherin
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar
PMID:22772368 PMID:28544325
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome
OMIM ClinVar
PMID:7737999 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 PMID:25136781 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28087566 PMID:28166282 PMID:28166811 PMID:28492532 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29907982 PMID:31898322 PMID:32897753 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Smad2
SMAD family member 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome 6
OMIM ClinVar
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 PMID:29392890 PMID:29967133 PMID:30157302 PMID:34655614 More...
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B
ClinVar
PMID:8246946 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 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:25786579 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26877057 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29543232 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675401 PMID:31098894 PMID:31769227 PMID:32420711 PMID:32528524 PMID:33083483 PMID:33726816 PMID:35535697 More...
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
OMIM ClinVar
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 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:28166811 PMID:28492532 PMID:28652363 PMID:28659821 PMID:29300374 PMID:31911919 More...
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: PHACES association
ClinVar
PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Igfbp7
insulin-like growth factor binding protein 7
ISO
ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis
OMIM ClinVar
PMID:12441727 PMID:21835307 PMID:25741868
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
G
Aagab
alpha- and gamma-adaptin binding protein
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
ClinVar
PMID:21778426 PMID:24804794 PMID:28492532
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
G
Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections DNA:missense mutation, deletion:cds: DNA:missense mutation, insertion:cds:
CTD ClinVar RGD
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 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:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 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: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:29300374 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30341550 PMID:31911919 PMID:36053285 PMID:19639654 PMID:21212136 More...
RGD:11069461 , RGD:12879440
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Adam10
ADAM metallopeptidase domain 10
IEP
protein:increased expression:aorta
RGD
PMID:20621845
RGD:5129489
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
G
Adam17
ADAM metallopeptidase domain 17
IEP
protein:increased expression:aorta
RGD
PMID:20621845
RGD:5129489
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
G
Alg2
ALG2, alpha-1,3/1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:28492532
NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
G
Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:27632686
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
G
Bgn
biglycan
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:25741868 PMID:27632686
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
G
Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm
ClinVar
PMID:32748548
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
G
Cbs
cystathionine beta synthase
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 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:9361025 PMID:9536098 PMID:9587029 PMID:9675031 PMID:9708897 PMID:9790750 PMID:9864922 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10780316 PMID:10807759 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11524006 PMID:11553052 PMID:11748855 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:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 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:19819175 PMID:19914636 PMID:20031640 PMID:20066033 PMID:20308073 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20694756 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21308989 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22069143 PMID:22140583 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23934999 PMID:23974653 PMID:24033266 PMID:24211323 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25331909 PMID:25516723 PMID:25741868 PMID:26464485 PMID:26750749 PMID:27243974 PMID:27604992 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:33223529 PMID:33985475 PMID:34426522 More...
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
G
Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 PMID:31584903 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 PMID:2349939 PMID:7665911 PMID:7695699 PMID:8098182 PMID:8218237 PMID:8514866 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:27153395 PMID:27168972 PMID:27306637 PMID:27488172 PMID:27888582 PMID:27964749 PMID:28035354 PMID:28087566 PMID:28166811 PMID:28492532 PMID:28655553 PMID:28748566 PMID:29192238 PMID:29309923 PMID:29346445 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31531849 PMID:31600821 PMID:31719132 PMID:31833208 PMID:31903434 PMID:32483363 PMID:33087929 PMID:33282382 More...
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 PMID:9536098 PMID:10471441 PMID:10602121 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:28166811 PMID:28454995 PMID:28492532 PMID:28550590 PMID:28748566 PMID:29578302 PMID:29924831 PMID:30467950 PMID:30858776 PMID:31064749 PMID:31625567 PMID:31903434 PMID:32938213 PMID:33206719 More...
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
G
Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:33161638 More...
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
G
Ctsb
cathepsin B
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm
ClinVar
PMID:32748548
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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
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
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
G
Defb30
defensin beta 30
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm
ClinVar
PMID:32748548
NCBI chr15:37,296,636...37,298,429
Ensembl chr15:37,296,602...37,298,479
G
Defb44
defensin beta 44
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm
ClinVar
PMID:32748548
NCBI chr15:37,312,308...37,313,370
Ensembl chr15:37,312,308...37,313,370
G
Eln
elastin
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD ClinVar
PMID:952872 PMID:1301946 PMID:1438159 PMID:1569206 PMID:1729284 PMID:1765782 PMID:1852208 PMID:2005308 PMID:2030732 PMID:3495735 PMID:3536967 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: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: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: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: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: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:20200614 PMID:20301500 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21034599 PMID:21135753 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: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:24501682 PMID:24504995 PMID:24564502 PMID:24568996 PMID:24613577 PMID:24635535 PMID:24665001 PMID:24698609 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:24982166 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25320358 PMID:25326635 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: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:26410935 PMID:26498160 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:27959697 PMID:28027854 PMID:28050602 PMID:28054583 PMID:28087566 PMID:28098115 PMID:28117189 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28301460 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:28941062 PMID:28944857 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29453956 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30019023 PMID:30087447 PMID:30115950 PMID:30192042 PMID:30255099 PMID:30341550 PMID:30371227 PMID:30485715 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30775854 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31053375 PMID:31061752 PMID:31098894 PMID:31106028 PMID:31163209 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31279664 PMID:31296287 PMID:31322791 PMID:31506931 PMID:31536524 PMID:31589614 PMID:31605817 PMID:31708711 PMID:31730815 PMID:31751304 PMID:31754721 PMID:31825148 PMID:31830381 PMID:31837199 PMID:31950671 PMID:32123317 PMID:32381728 PMID:32431097 PMID:32655337 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:32989268 PMID:33059708 PMID:33174221 PMID:33200202 PMID:33394117 PMID:33436942 PMID:33483584 PMID:33495528 PMID:33711475 PMID:33735269 PMID:33775534 PMID:33824467 PMID:34008892 PMID:34122512 PMID:34150014 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34550612 PMID:35237611 PMID:35535697 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:7606779 PMID:8653794 PMID:8900230 PMID:9054436 PMID:9536098 PMID:11536364 PMID:11754102 PMID:12511552 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 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:28166811 PMID:28492532 PMID:28831199 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31506931 PMID:33435129 PMID:34008892 More...
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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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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Flna
filamin A
ISO
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:6019437 PMID:9536098 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16299064 PMID:16538226 PMID:17576681 PMID:17632775 PMID:18414213 PMID:19377476 PMID:20979190 PMID:21320118 PMID:21520333 PMID:22076441 PMID:22465605 PMID:22740120 PMID:23032111 PMID:23487190 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30755392 PMID:30986657 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:25741868 PMID:26854927 PMID:28492532 PMID:29314435
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:25741868 PMID:28492532 PMID:32748548
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata5
GATA binding protein 5
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:22641149 PMID:28492532
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939 PMID:34281165 More...
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Mat2a
methionine adenosyltransferase 2A
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:17576681 PMID:28166811 PMID:28492532
NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20301719 PMID:23395478 PMID:24039113 PMID:24715367 PMID:24728327 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26813965 PMID:27312080 PMID:28492532 PMID:28544239 PMID:30006928 PMID:33244166 More...
NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:25434006 PMID:25741868
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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Miat
myocardial infarction associated transcript
ISO
mRNA:increased expression:thoracic aorta (human)
RGD
PMID:30989723
RGD:155260298
NCBI chr12:44,414,620...44,429,852
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Mir145
microRNA 145
ISO
RNA:decreased expression:thoracic aorta (human)
RGD
PMID:30989723
RGD:155260298
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mmp1
matrix metallopeptidase 1
ISO
protein:decreased expression:aorta (human)
RGD
PMID:15561045 PMID:16820601
RGD:1582530 , RGD:1582351
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp12
matrix metallopeptidase 12
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp14
matrix metallopeptidase 14
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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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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Mmp8
matrix metallopeptidase 8
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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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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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar RGD
PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 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:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27854218 PMID:27879251 PMID:28074631 PMID:28166811 PMID:28195393 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:30739908 PMID:31473177 PMID:31664448 PMID:31785789 PMID:31977013 PMID:32233023 PMID:32238909 PMID:16444274 More...
RGD:1580903
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 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: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:31296287 PMID:33895855 More...
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
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 PMID:21937134 PMID:22001912 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25500235 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:26467025 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27854218 PMID:28074631 PMID:28166811 PMID:28195393 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30122538 PMID:31473177 PMID:31664448 PMID:31785789 PMID:31977013 PMID:32238909 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Neil2
nei-like DNA glycosylase 2
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm
ClinVar
PMID:32748548
NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:20007775 PMID:20981092 PMID:21457232 PMID:21642962 PMID:22077063 PMID:22225590 PMID:23040356 PMID:23578328 PMID:23860447 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26893459 PMID:27760138 PMID:27854218 PMID:27989580 PMID:28074886 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28776427 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30511478 PMID:30582441 PMID:30609409 PMID:31624253 PMID:31866570 PMID:32748548 PMID:33064175 PMID:33208564 PMID:33247628 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 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:28492532 More...
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Prkg1
protein kinase cGMP-dependent 1
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:16646045 PMID:23910461 PMID:25741868 PMID:27442293 PMID:27879251 PMID:28166811 PMID:28492532 PMID:29510914 PMID:29907982 More...
NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Robo4
roundabout guidance receptor 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thoracic aortic aneurysm
CTD ClinVar
PMID:30455415 PMID:32748548
NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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Serpine1
serpin family E member 1
ISO
mRNA:increased expression:aorta:
RGD
PMID:23814118
RGD:13208504
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Ski
Ski proto-oncogene
ISO
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 PMID:19112531 PMID:21699693 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:29543232 PMID:31322791 More...
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:14569121 PMID:16550171 PMID:17576681 PMID:17935213 PMID:18774132 PMID:19028722 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23494979 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 PMID:28726533 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:33144682 PMID:34668355 More...
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
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16199547 PMID:16828225 PMID:17576681 PMID:17725494 PMID:21217753 PMID:21778426 PMID:21815248 PMID:21835029 PMID:21949838 PMID:22167769 PMID:23139211 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25944730 PMID:26133393 PMID:26854089 PMID:27724990 PMID:28185953 PMID:28391405 PMID:28492532 PMID:29392890 PMID:29444731 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30675029 PMID:30739908 PMID:30787465 PMID:31085000 PMID:31096651 PMID:31098894 PMID:31915033 PMID:32154675 PMID:33125268 More...
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 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:15031030 PMID:15235019 PMID:15288293 PMID:15350224 PMID:15637079 PMID:15754356 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 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:22561520 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22826269 PMID:22843233 PMID:22875147 PMID:23139211 PMID:23239472 PMID:23399955 PMID:23559152 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: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:32300199 PMID:32573726 PMID:32944796 PMID:32973888 PMID:33745841 More...
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:28492532 PMID:32748548
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:30675029 PMID:31211696 PMID:31459939 PMID:34281165 More...
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD ClinVar
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9599222 PMID:10611753 PMID:16199547 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:32307099 More...
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 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:28166811 PMID:28240702 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29907982 PMID:31568572 PMID:31898322 PMID:32897753 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
G
Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar RGD
PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 PMID:12499371 PMID:15731757 PMID:16199547 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19159394 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 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:25437144 PMID:25521989 PMID:25589165 PMID:25637381 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:27558455 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28166811 PMID:28209770 PMID:28492532 PMID:28655553 PMID:29192238 PMID:29543232 PMID:29706644 PMID:29907982 PMID:30087447 PMID:30219046 PMID:30675029 PMID:30701076 PMID:30739908 PMID:31624717 PMID:31837199 PMID:31915033 PMID:32339686 PMID:33256177 PMID:18313409 More...
RGD:2299005
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
G
Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7664267 PMID:7862150 PMID:8246946 PMID:8555189 PMID:9395234 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: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:20628007 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:22734312 PMID:22772368 PMID:22772377 PMID:23099432 PMID:23103230 PMID:23228659 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:25786579 PMID:25925954 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:27017362 PMID:27100340 PMID:27112580 PMID:27125181 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28166811 PMID:28225382 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29768367 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675029 PMID:30675401 PMID:30739908 PMID:31098894 PMID:31769227 PMID:32152251 PMID:32420711 PMID:32528524 PMID:32560555 PMID:32887874 PMID:33083483 PMID:33726816 PMID:35535697 PMID:18313409 More...
RGD:2299005
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
G
Tgfbr3
transforming growth factor beta receptor 3
ISO
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
protein:decreased expression:aorta (human)
RGD
PMID:16820601
RGD:1582351
NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all