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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:aortic aneurysm
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Accession:DOID:3627 term browser browse the term
Definition:An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (DO)
Synonyms:exact_synonym: AORTIC DILATATION;   Aortic Aneurysms
 narrow_synonym: ASCENDING AORTIC DILATION;   FAMILIAL AORTIC ANEURYSMS
 primary_id: MESH:D001014
 xref: EFO:0001666;   ICD10CM:I71.1;   ICD10CM:I71.3;   ICD10CM:I71.5;   ICD10CM:I71.8;   ICD10CM:I71.9;   ICD9CM:441.1;   ICD9CM:441.3;   ICD9CM:441.5;   ICD9CM:441.6;   NCI:C26697;   NCI:C27046;   NCI:C27198;   NCI:C27299
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:21925196 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:16397885 RGD:2313928 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:28492532 PMID:29689197 NCBI chr15:72,474,330...72,602,987
Ensembl chr15:72,474,330...72,602,987 		JBrowse link
G ATP7A ATPase copper transporting alpha ISS MouseDO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISS
IAGP 		DNA:missense mutation:CDS:p.E161K (human) MouseDO
RGD		 PMID:22440127 RGD:42722009 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G ELN elastin IDA associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBN1 fibrillin 1 severity IAGP
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 More... RGD:1300362, RGD:7365039 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HDAC4 histone deacetylase 4 IEP mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KLF15 KLF transcription factor 15 ISS MouseDO NCBI chr 3:126,288,125...126,357,408
Ensembl chr 3:126,342,635...126,357,408 		JBrowse link
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 NCBI chr15:67,066,039...67,066,198 JBrowse link
G LOC130057478 ATAC-STARR-seq lymphoblastoid silent region 6624 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:29689197 NCBI chr15:72,474,464...72,474,693 JBrowse link
G LOX lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MIR145 microRNA 145 disease_progression IEP miRNA:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733 		JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Aortic dilatation
ClinVar Annotator: match by term: Aortic aneurysm 		ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G PTGER4 prostaglandin E receptor 4 IEP RGD PMID:22570740 RGD:6483518 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G ROBO4 roundabout guidance receptor 4 IAGP ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:9697825 RGD:8547863 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SKI SKI proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SMAD3 SMAD family member 3 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm 		CTD
ClinVar		 PMID:21217753 PMID:25741868 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SPP1 secreted phosphoprotein 1 IEP protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22772371 PMID:25741868 PMID:28492532 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 TAS
IAGP 		ClinVar Annotator: match by term: Aortic aneurysm ClinVar
RGD		 PMID:25741868 PMID:37823753 PMID:18313409 RGD:2299005 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 TAS
IAGP
EXP 		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 More... RGD:2299005 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24602481 RGD:11039028 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 EXP CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ADM adrenomedullin IEP protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 More... NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO
EXP 		mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22539767 PMID:18451329 RGD:5147451 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AHCY adenosylhomocysteinase susceptibility IAGP DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G APOE apolipoprotein E disease_progression IAGP
ISO 		DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855 PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CASP3 caspase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CAV1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CRP C-reactive protein IEP protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF2 colony stimulating factor 2 severity ISO mRNA:increased expression:aorta:
protein:decreased expression:serum (rat) 		RGD PMID:15010288 PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G DAB2IP DAB2 interacting protein sexual_dimorphism EXP
IAGP
IEP 		CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs7025486 (human)
mRNA:increased expression:aorta (human)
DNA:SNP:CDS:intron 1 (rs7025486) (human) 		CTD
RGD		 PMID:20622881 PMID:28698188 PMID:31028191 PMID:20622881 RGD:401938619, RGD:401938604, RGD:401901599 NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G DAPK1 death associated protein kinase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:34796763 NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G EHF ETS homologous factor treatment ISO RGD PMID:14662712 RGD:1581123 NCBI chr11:34,621,093...34,663,288
Ensembl chr11:34,621,093...34,663,288 		JBrowse link
G ELN elastin treatment IAGP
ISO 		RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOLH1 folate hydrolase 1 susceptibility IAGP DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human) RGD PMID:18635682 RGD:329853746 NCBI chr11:49,145,092...49,208,602
Ensembl chr11:49,145,092...49,208,638 		JBrowse link
G FTL ferritin light chain IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IEP mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GATM glycine amidinotransferase HEP RGD PMID:22797469 RGD:329961302 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP RGD PMID:12182912 RGD:1580455 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1B interleukin 1 beta ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL4 interleukin 4 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G ITGAM integrin subunit alpha M ameliorates IEP
ISO 		protein:increased expression:aorta (human) RGD PMID:33749307 PMID:33749307 RGD:329853751, RGD:329853751 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGAV integrin subunit alpha V IDA RGD PMID:16809548 RGD:1582446 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901 		JBrowse link
G KNG1 kininogen 1 ISO DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410 		JBrowse link
G LOX lysyl oxidase ISO RGD PMID:10965315 RGD:1581887 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IDA RGD PMID:16311603 RGD:1582313 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MIR363 microRNA 363 IEP mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr  X:134,169,378...134,169,452
Ensembl chr  X:134,169,378...134,169,452 		JBrowse link
G MMP1 matrix metallopeptidase 1 IDA RGD PMID:16293969 RGD:1582519 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 no_association IAGP
IDA 		RGD PMID:16082623 PMID:16115023 RGD:1582356, RGD:1582355 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP13 matrix metallopeptidase 13 no_association IDA
IAGP 		RGD PMID:15156361 PMID:15944607 RGD:1582548, RGD:1580157 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IEP
EXP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19010778 PMID:11877705 PMID:15300177 RGD:1582584, RGD:1582579 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment
no_association 		ISO
IEP
IAGP 		RGD PMID:20016209 PMID:21256058 PMID:24484904 PMID:11457749 PMID:15300177 More... RGD:2325698, RGD:13207313, RGD:8657104, RGD:1582585, RGD:1582579, RGD:1582621, RGD:1302825 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP8 matrix metallopeptidase 8 severity IEP RGD PMID:16432074 RGD:1582641 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment 		IEP
EXP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17196988 PMID:16432074 PMID:21256058 RGD:1582641, RGD:13207313 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MYH11 myosin heavy chain 11 IEP protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NNMT nicotinamide N-methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536 		JBrowse link
G NONO non-POU domain containing octamer binding ameliorates ISO RGD PMID:31512366 RGD:155882451 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IEP mRNA:increased expression:abdominal aorta (human) RGD PMID:16311343 RGD:401827904 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO RGD PMID:19028049 RGD:6480528 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PLA2G7 phospholipase A2 group VII IAGP RGD PMID:11807372 RGD:1581024 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G POSTN periostin IEP
ISO 		protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G SELL selectin L ISO RGD PMID:15998669 RGD:5685707 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:20554458 RGD:4144856 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility IAGP DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SOD2 superoxide dismutase 2 ISO
EXP 		mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196988 PMID:17196988 RGD:1625699 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SORT1 sortilin 1 IAGP DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 1:109,309,575...109,397,918
Ensembl chr 1:109,309,568...109,397,918 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912 		JBrowse link
G TYMS thymidylate synthetase susceptibility IAGP DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
Aortic Rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G EDN2 endothelin 2 IEP RGD PMID:11947982 RGD:1580915 NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683 		JBrowse link
G FBN1 fibrillin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992 		JBrowse link
G VKORC1 vitamin K epoxide reductase complex subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		JBrowse link
Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 		ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,733...47,433,569 		JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: Familial aortic dissection 		ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: Annuloaortic ectasia 		ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: Annuloaortic ectasia 		ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 PMID:36517271 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Annuloaortic ectasia
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm 		ClinVar PMID:28492532 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: Familial aortic dissection 		ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder 		ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
Familial Thoracic Aortic Aneurysm 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to ClinVar
OMIM		 PMID:25741868 PMID:26854927 PMID:28492532 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to ClinVar PMID:25741868 PMID:26854927 PMID:28492532 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,733...47,433,569 		JBrowse link
Familial Thoracic Aortic Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD4 thrombospondin type 1 domain containing 4 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition OMIM
ClinVar		 PMID:25741868 PMID:32855533 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More... NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMERB1 bMERB domain containing 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,434,588...15,588,259
Ensembl chr16:15,434,475...15,625,028 		JBrowse link
G CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625 		JBrowse link
G LOC113939949 Sharpr-MPRA regulatory region 5546 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr16:15,765,912...15,766,206 JBrowse link
G MARF1 meiosis regulator and mRNA stability factor 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,594,387...15,643,154
Ensembl chr16:15,594,387...15,643,154 		JBrowse link
G MPV17L MPV17 mitochondrial inner membrane protein like IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,395,754...15,413,271
Ensembl chr16:15,395,754...15,413,271 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP
EXP 		ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus 		ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP
EXP 		ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI 		ClinVar PMID:646322 PMID:9536098 PMID:17576681 PMID:17994018 PMID:19409525 More... NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G CH25H cholesterol 25-hydroxylase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr10:89,205,629...89,207,317
Ensembl chr10:89,205,629...89,207,317 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FAS-AS1 FAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr10:88,991,422...88,992,975 JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:36946977 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP 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 chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP 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 chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP 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 chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G LOC126806791 MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 IAGP ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 		ClinVar PMID:16199547 PMID:21055718 PMID:24033266 PMID:25741868 PMID:26017485 More... NCBI chr 3:123,629,024...123,630,223 JBrowse link
G LOC126806792 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 		ClinVar PMID:9536098 PMID:17576681 PMID:21055718 PMID:25741868 PMID:28492532 NCBI chr 3:123,792,492...123,793,691 JBrowse link
G LOC129937401 ATAC-STARR-seq lymphoblastoid silent region 14650 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:25741868 NCBI chr 3:123,884,212...123,884,371 JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 		ClinVar
OMIM		 PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More... NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYLK-AS1 MYLK antisense RNA 1 IAGP ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21055718 PMID:24033266 More... NCBI chr 3:123,585,513...123,630,821
Ensembl chr 3:123,585,143...123,644,568 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTF2T cleavage stimulation factor subunit 2 tau variant IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:25640679 PMID:28492532 NCBI chr10:51,695,486...51,699,595
Ensembl chr10:51,695,486...51,699,595 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G MBL2 mannose binding lectin 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16646045 PMID:17576681 PMID:23910461 More... NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861443 BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 IAGP ClinVar Annotator: match by term: MFAP5-related condition
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 		ClinVar PMID:25434006 PMID:25741868 PMID:27016457 PMID:28492532 PMID:29618732 More... NCBI chr12:8,647,877...8,649,076 JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition OMIM
ClinVar		 PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 More... NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 NCBI chr15:67,066,039...67,066,198 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP
EXP 		ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB2 transforming growth factor beta 2 EXP
IAGP
ISS 		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: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
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
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996 		JBrowse link
G TGFB3 transforming growth factor beta 3 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Loeys-Dietz syndrome
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 Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 susceptibility IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 2A
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 		ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5
ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 		ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:10612827 PMID:12938084 PMID:16222657 PMID:17253931 PMID:17657824 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130008520 ATAC-STARR-seq lymphoblastoid silent region 4752 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:98,516,080...98,516,349 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP 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 		ClinVar
OMIM		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TMPO-AS1 TMPO antisense RNA 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:98,512,973...98,516,226
Ensembl chr12:98,512,791...98,516,422 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition 		ClinVar PMID:20851114 PMID:24033266 PMID:24711937 PMID:25741868 PMID:26221609 More... NCBI chr15:67,066,039...67,066,198 JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition
ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition
ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition 		OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIDA axin interactor, dorsalization associated IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,668,013...222,712,491
Ensembl chr 1:222,668,013...222,713,210 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462 		JBrowse link
G BROX BRO1 domain and CAAX motif containing IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,712,564...222,735,187
Ensembl chr 1:222,712,553...222,735,196 		JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DUSP10 dual specificity phosphatase 10 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755 		JBrowse link
G FAM177B family with sequence similarity 177 member B IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,737,202...222,751,004
Ensembl chr 1:222,737,202...222,751,004 		JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090 		JBrowse link
G HHIPL2 HHIP like 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,522,264...222,548,104
Ensembl chr 1:222,522,258...222,548,104 		JBrowse link
G HLX H2.0 like homeobox IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G LOC130056139 ATAC-STARR-seq lymphoblastoid silent region 5952 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr14:75,960,377...75,960,426 JBrowse link
G LYPLAL1 lysophospholipase like 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,173,878...219,445,496
Ensembl chr 1:219,173,869...219,212,865 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,136...220,664,461 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MIR194-1 microRNA 194-1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241 		JBrowse link
G MIR215 microRNA 215 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,786,913...220,819,659
Ensembl chr 1:220,786,352...220,819,659 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,748,322...220,784,815
Ensembl chr 1:220,748,225...220,784,815 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SPATA17 spermatogenesis associated 17 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:217,631,344...217,871,696
Ensembl chr 1:217,631,324...217,871,696 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar
OMIM		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:25741868 NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,145...218,347,866 		JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:25741868 NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		JBrowse link
G GPATCH2L G-patch domain containing 2 like IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:76,151,922...76,235,555
Ensembl chr14:76,151,916...76,254,342 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G LOC130056139 ATAC-STARR-seq lymphoblastoid silent region 5952 IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:75,960,377...75,960,426 JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Rienhoff syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome 		ClinVar
OMIM		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		JBrowse link
Loeys-Dietz syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME 		OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome 		ClinVar PMID:646322 PMID:19409525 PMID:21248741 PMID:25741868 PMID:25759435 More... NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar PMID:25741868 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: PHACE ASSOCIATION ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
thoracic aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21778426 PMID:24804794 PMID:28492532 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP
EXP 		DNA:missense mutation, insertion:cds:
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, deletion:cds: 		ClinVar
CTD
RGD		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... RGD:12879440, RGD:11069461 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:646322 PMID:9536098 PMID:17576681 PMID:17994018 PMID:19409525 More... NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:21358634 PMID:28492532 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,983,341...98,015,943
Ensembl chr 9:97,983,341...98,015,943 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr15:72,474,330...72,602,987
Ensembl chr15:72,474,330...72,602,987 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:27632686 PMID:38531898 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G COL15A1 collagen type XV alpha 1 chain IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,943,907...99,070,787
Ensembl chr 9:98,943,179...99,070,787 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP
IEP 		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
protein:increased expression:aorta (human) 		ClinVar
RGD		 PMID:16786509 PMID:25741868 PMID:28492532 PMID:29543232 PMID:30665703 More... RGD:401851087 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1352273 PMID:1556139 PMID:1780712 PMID:1939638 PMID:2049575 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 More... NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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 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 aneurysms and dissections 		ClinVar PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IEP protein:increased expression:aorta (human) RGD PMID:29137225 RGD:401851087 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CORO2A coronin 2A IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,120,975...98,192,637
Ensembl chr 9:98,120,975...98,192,637 		JBrowse link
G CTSB cathepsin B IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 severity IEP mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 severity IEP mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 severity IEP mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G DEFB134 defensin beta 134 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,993,174...12,000,752
Ensembl chr 8:11,993,174...12,000,752 		JBrowse link
G DEFB135 defensin beta 135 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,982,256...11,984,590
Ensembl chr 8:11,982,256...11,984,590 		JBrowse link
G DEFB136 defensin beta 136 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,973,937...11,974,599
Ensembl chr 8:11,973,937...11,974,599 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21563328 PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ELN-AS1 ELN antisense RNA 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 7:74,058,905...74,062,280
Ensembl chr 7:74,058,905...74,062,308 		JBrowse link
G ERP44 endoplasmic reticulum protein 44 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,979,185...100,099,000
Ensembl chr 9:99,979,185...100,099,052 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FBN1 fibrillin 1 IAGP
EXP 		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
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: Thoracic aortic aneurysm or dissection
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 aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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: 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 aneurysms and dissections 		ClinVar PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 More... NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FLNA filamin A IAGP
IEP 		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
protein:decreased expression:aorta (human) 		ClinVar
RGD		 PMID:1854572 PMID:3265608 PMID:6019437 PMID:9536098 PMID:10982489 More... RGD:401851087 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXE1 forkhead box E1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic 		ClinVar PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 More... NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,807,670...98,850,081
Ensembl chr 9:98,807,670...98,850,081 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 PMID:32748548 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:22641149 PMID:25741868 PMID:28492532 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G HEMGN hemogen IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,926,791...97,944,852
Ensembl chr 9:97,926,791...97,944,856 		JBrowse link
G INVS inversin IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic 		ClinVar PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,733...47,433,569 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP 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:7749409 PMID:7929094 PMID:8349697 PMID:9536098 PMID:10471441 More... NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:16684786 PMID:20730588 PMID:25741868 PMID:26471271 PMID:28492532 More... NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC110120917 VISTA enhancer hs660 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,906,636...66,907,796 JBrowse link
G LOC111365216 FOXA motif-containing MPRA enhancer 105 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,135,581...67,135,725 JBrowse link
G LOC111413015 HNF4 motif-containing MPRA enhancer 143 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,770,574...66,770,718 JBrowse link
G LOC111413043 HNF4 motif-containing MPRA enhancer 189 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,062,548...67,062,692 JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection
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 PMID:9362480 PMID:9536098 PMID:10612827 PMID:11700157 PMID:12938084 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC121331339 Sharpr-MPRA regulatory region 12902 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,167,147...99,167,441 JBrowse link
G LOC121530586 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67439357-67440291 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,147,019...67,147,953 JBrowse link
G LOC121847954 Sharpr-MPRA regulatory region 4683 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,025,671...67,025,965 JBrowse link
G LOC125110346 Sharpr-MPRA regulatory region 14210 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,746,231...66,746,525 JBrowse link
G LOC125110347 Sharpr-MPRA regulatory region 9309 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,948,151...66,948,445 JBrowse link
G LOC125110348 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:67399127-67400326 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,106,789...67,107,988 JBrowse link
G LOC126806446 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:1939638 PMID:2243125 PMID:7695699 PMID:8218237 PMID:18043893 More... NCBI chr 2:189,001,484...189,002,683 JBrowse link
G LOC126806791 MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 IAGP 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:24033266 PMID:25741868 PMID:26017485 PMID:28492532 PMID:34498425 NCBI chr 3:123,629,024...123,630,223 JBrowse link
G LOC126806792 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:123,792,492...123,793,691 JBrowse link
G LOC126807501 BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 IAGP 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:24033266 PMID:24833718 PMID:25741868 PMID:28492532 NCBI chr 5:128,345,039...128,346,238 JBrowse link
G LOC126860794 BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 IAGP 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:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 9:136,498,140...136,499,339 JBrowse link
G LOC126861443 BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 IAGP ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm ClinVar PMID:25434006 PMID:25741868 PMID:28492532 PMID:29618732 PMID:33824467 NCBI chr12:8,647,877...8,649,076 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP 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 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: Aortic aneurysm, thoracic 		ClinVar PMID:9399842 PMID:9536098 PMID:10486319 PMID:11175294 PMID:11524736 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC126862158 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:67179855-67181054 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,887,517...66,888,716 JBrowse link
G LOC126862159 MED14-independent group 3 enhancer GRCh37_chr15:67192812-67194011 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,900,474...66,901,673 JBrowse link
G LOC126862160 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:67248284-67249483 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,955,946...66,957,145 JBrowse link
G LOC126863275 BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 IAGP 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:25741868 PMID:28492532 PMID:33023636 NCBI chr  X:71,122,550...71,123,749 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC129937401 ATAC-STARR-seq lymphoblastoid silent region 14650 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 3:123,884,212...123,884,371 JBrowse link
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP 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:21358634 PMID:25741868 PMID:28492532 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G LOC130002224 ATAC-STARR-seq lymphoblastoid silent region 20125 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,105,331...99,105,840 JBrowse link
G LOC130002225 ATAC-STARR-seq lymphoblastoid active region 28699 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,137,274...99,137,403 JBrowse link
G LOC130002226 ATAC-STARR-seq lymphoblastoid active region 28700 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,181,626...99,182,085 JBrowse link
G LOC130002227 ATAC-STARR-seq lymphoblastoid active region 28701 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,184,702...99,184,911 JBrowse link
G LOC130002228 ATAC-STARR-seq lymphoblastoid silent region 20126 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,187,456...99,187,575 JBrowse link
G LOC130003020 ATAC-STARR-seq lymphoblastoid silent region 20528 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 9:136,545,713...136,546,272 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP 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:16222657 PMID:16835936 PMID:19839986 PMID:24033266 PMID:24941995 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar NCBI chr15:48,644,834...48,644,963 JBrowse link
G LOC130057347 ATAC-STARR-seq lymphoblastoid active region 9617 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,774,415...66,774,464 JBrowse link
G LOC130057348 ATAC-STARR-seq lymphoblastoid silent region 6570 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,851,363...66,851,442 JBrowse link
G LOC130057349 ATAC-STARR-seq lymphoblastoid silent region 6571 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,903,916...66,903,965 JBrowse link
G LOC130057350 ATAC-STARR-seq lymphoblastoid silent region 6572 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,908,231...66,908,300 JBrowse link
G LOC130057351 ATAC-STARR-seq lymphoblastoid silent region 6573 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,065,379...67,065,868 JBrowse link
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20851114 PMID:21778426 PMID:24033266 PMID:24711937 PMID:24804794 More... NCBI chr15:67,066,039...67,066,198 JBrowse link
G LOC130057353 ATAC-STARR-seq lymphoblastoid active region 9618 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,082,203...67,082,342 JBrowse link
G LOC130057354 ATAC-STARR-seq lymphoblastoid active region 9619 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,083,100...67,083,219 JBrowse link
G LOC130057355 ATAC-STARR-seq lymphoblastoid active region 9620 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,083,690...67,083,769 JBrowse link
G LOC130057356 ATAC-STARR-seq lymphoblastoid active region 9621 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,091,089...67,091,178 JBrowse link
G LOC130057357 ATAC-STARR-seq lymphoblastoid active region 9622 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,096,970...67,097,019 JBrowse link
G LOC130057358 ATAC-STARR-seq lymphoblastoid active region 9623 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,100,966...67,101,115 JBrowse link
G LOC130057359 ATAC-STARR-seq lymphoblastoid active region 9624 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,120,935...67,121,374 JBrowse link
G LOC130057360 ATAC-STARR-seq lymphoblastoid active region 9625 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,176,053...67,176,102 JBrowse link
G LOC130068823 ATAC-STARR-seq lymphoblastoid active region 30035 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:153,507,438...153,507,537 JBrowse link
G LOC130068824 ATAC-STARR-seq lymphoblastoid active region 30036 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:153,507,618...153,507,667 JBrowse link
G LOC132089611 Neanderthal introgressed variant-containing enhancer experimental_103896 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,171,492...99,171,661 JBrowse link
G LOC132089612 Neanderthal introgressed variant-containing enhancer experimental_103898 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,203,266...99,203,435 JBrowse link
G LOC132090322 Neanderthal introgressed variant-containing enhancer experimental_40570 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,867,289...66,867,458 JBrowse link
G LOC132090323 Neanderthal introgressed variant-containing enhancer experimental_40591 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,019,196...67,019,365 JBrowse link
G LOC132090324 Neanderthal introgressed variant-containing enhancer experimental_40599 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,153,278...67,153,447 JBrowse link
G LOC132090325 Neanderthal introgressed variant-containing enhancer experimental_40600 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,154,450...67,154,619 JBrowse link
G LOC132090795 Neanderthal introgressed variant-containing enhancer experimental_103900 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21358634 PMID:28492532 NCBI chr 9:99,218,862...99,219,031 JBrowse link
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic 		ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP 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:9536098 PMID:17576681 PMID:21813468 PMID:25557781 PMID:25741868 More... NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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 and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:10405444 PMID:17334363 PMID:17576681 PMID:18414213 More... NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm 		ClinVar PMID:25434006 PMID:25741868 PMID:28492532 PMID:29618732 PMID:33824467 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MIAT myocardial infarction associated transcript IEP mRNA:increased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr22:26,646,429...26,676,478
Ensembl chr22:26,646,411...26,676,478 		JBrowse link
G MIR140 microRNA 140 ameliorates IDA RGD PMID:32678444 RGD:329347832 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G MIR145 microRNA 145 IEP RNA:decreased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733 		JBrowse link
G MIR3606 microRNA 3606 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,995,630...188,995,692
Ensembl chr 2:188,995,630...188,995,692 		JBrowse link
G MIR4673 microRNA 4673 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:136,519,568...136,519,626
Ensembl chr 9:136,519,568...136,519,626 		JBrowse link
G MMP1 matrix metallopeptidase 1 IDA
IEP 		protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582530, RGD:1582351 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP14 matrix metallopeptidase 14 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO
EXP 		CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		CTD
RGD		 PMID:16159824 PMID:16159824 PMID:20621845 RGD:1582608, RGD:5129489 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP8 matrix metallopeptidase 8 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO
IEP
EXP
IAGP 		mRNA, protein:increased expression:aorta
protein:decreased activity:aorta (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16159824 PMID:20621845 PMID:16820601 PMID:16678588 RGD:5129489, RGD:1582351, RGD:1580554 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP 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 aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 More... RGD:1580903 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYLK-AS1 MYLK antisense RNA 1 IAGP 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:9536098 PMID:17576681 PMID:21055718 PMID:24033266 PMID:25741868 More... NCBI chr 3:123,585,513...123,630,821
Ensembl chr 3:123,585,143...123,644,568 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,633,821...97,673,748
Ensembl chr 9:97,633,668...97,673,748 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic 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 aneurysms and dissections 		ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NEIL2 nei like DNA glycosylase 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr 8:11,769,710...11,787,345
Ensembl chr 8:11,769,639...11,787,345 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:15472075 PMID:16025100 PMID:16199547 PMID:16614245 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 More... NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:24667040 More... NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G ROBO4 roundabout guidance receptor 4 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:30455415 PMID:32748548 NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500 		JBrowse link
G SEC61B SEC61 translocon subunit beta IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,222,282...99,230,615
Ensembl chr 9:99,222,064...99,230,615 		JBrowse link
G SERPINE1 serpin family E member 1 IEP mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:15979919 PMID:16327884 More... NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection 		ClinVar PMID:9536098 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17576681 More... NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD3-AS1 SMAD3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:67,142,734...67,146,939
Ensembl chr15:67,142,734...67,146,939 		JBrowse link
G SMAD3-DT SMAD3 divergent transcript IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,984,207...67,064,182 JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 More... NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 PMID:32748548 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G SMASR SMAD3 associated long non-coding RNA IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 NCBI chr15:66,931,537...66,956,515
Ensembl chr15:66,931,508...66,957,324 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
G STX17 syntaxin 17 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,906,654...99,974,534
Ensembl chr 9:99,906,654...99,974,534 		JBrowse link
G TBC1D2 TBC1 domain family member 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,198,998...98,255,649
Ensembl chr 9:98,199,011...98,255,649 		JBrowse link
G TDRD7 tudor domain containing 7 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,412,096...97,496,125
Ensembl chr 9:97,412,096...97,496,125 		JBrowse link
G TGFB2 transforming growth factor beta 2 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | 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 		CTD
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 TAS
IAGP 		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm or 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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar
RGD		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... RGD:2299005 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 TAS
IAGP
EXP 		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7664267 PMID:7862150 PMID:8199354 PMID:8246946 PMID:8555189 More... RGD:2299005 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IEP protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G TMOD1 tropomodulin 1 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,501,180...97,601,743
Ensembl chr 9:97,501,180...97,601,743 		JBrowse link
G TRIM14 tripartite motif containing 14 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,035,797...98,119,222
Ensembl chr 9:98,069,275...98,119,222 		JBrowse link
G TRMO tRNA methyltransferase O IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,896,855...97,922,500
Ensembl chr 9:97,894,512...97,922,500 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,600,080...97,633,368
Ensembl chr 9:97,600,080...97,633,368 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      cardiovascular system disease 20322
        vascular disease 14762
          Aneurysm 830
            aortic aneurysm 597
              Aortic Aneurysm, Giant Congenital + 1
              Aortic Rupture 7
              Loeys-Dietz syndrome + 60
              abdominal aortic aneurysm + 310
              thoracic aortic aneurysm + 216
Path 2
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      cardiovascular system disease 20322
        vascular disease 14762
          artery disease 10307
            aortic disease 1915
              aortic aneurysm 597
                Aortic Aneurysm, Giant Congenital + 1
                Aortic Rupture 7
                Loeys-Dietz syndrome + 60
                abdominal aortic aneurysm + 310
                thoracic aortic aneurysm + 216
paths to the root