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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925196 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:28492532 PMID:29689197 NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO MouseDO NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:28492532 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.E161K (human) RGD
MouseDO		 PMID:22440127 RGD:42722009 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G ELN elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FBN1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar Annotator: match by term: Ascending aortic dilation 		RGD
ClinVar		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:7365039 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KLF15 KLF transcription factor 15 ISO MouseDO NCBI chr 7:53,877,813...53,890,558
Ensembl chr 7:53,877,818...53,889,144 		JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO RGD PMID:16397885 RGD:2313928 NCBI chr12:19,996,324...20,007,006 JBrowse link
G LOX lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G MIR145 microRNA mir-145 disease_progression ISO miRNA:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:22570740 RGD:6483518 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:25741868 PMID:30455415 NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:9697825 RGD:8547863 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SKI SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:25465469 RGD:155260284 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22772371 PMID:25741868 PMID:28492532 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:37823753 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:16791849 PMID:17061023 PMID:18781618 PMID:24033266 PMID:24793577 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:27895300 NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872 		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 chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G ADM adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 More... NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:18451329 PMID:22539767 RGD:5147451 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105 		JBrowse link
G AHCY adenosylhomocysteinase susceptibility ISO DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chr17:37,726,084...37,744,378
Ensembl chr17:37,726,084...37,744,461 		JBrowse link
G APOE apolipoprotein E disease_progression ISO DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10841519 PMID:10848855 RGD:1578483 RGD:6903247 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G CASP3 caspase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CAV1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		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 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155 		JBrowse link
G DAB2IP DAB2 interacting protein sexual_dimorphism ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:intron 1 (rs7025486) (human)
mRNA:increased expression:aorta (human)
DNA:SNP:CDS:rs7025486 (human) 		CTD
RGD		 PMID:20622881 PMID:28698188 PMID:31028191 RGD:401901599 RGD:401938604 RGD:401938619 NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,785...261,859,830 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34796763 NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350 		JBrowse link
G EHF ETS homologous factor treatment ISO RGD PMID:14662712 RGD:1581123 NCBI chr 2:26,287,244...26,340,222
Ensembl chr 2:26,291,480...26,340,245 		JBrowse link
G ELN elastin treatment ISO RGD PMID:15944607 PMID:18585885 RGD:1580157 RGD:9585668 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FOLH1B folate hydrolase 1B susceptibility ISO DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 9:22,903,997...22,960,648
Ensembl chr 9:22,903,979...22,963,472 		JBrowse link
G FTL ferritin light chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 6:54,231,121...54,232,756
Ensembl chr 6:54,231,172...54,232,750 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718 		JBrowse link
G GATM glycine amidinotransferase ISO RGD PMID:22797469 RGD:329961302 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823 RGD:401827834 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823 RGD:401827834 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 6:54,234,600...54,250,211
Ensembl chr 6:54,233,050...54,250,261 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455
G IFNG interferon gamma ISO protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:aorta (human) RGD PMID:33749307 RGD:329853751 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018 		JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr15:91,604,666...91,711,843
Ensembl chr15:91,604,676...91,711,851 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825
G LOX lysyl oxidase ISO RGD PMID:10965315 RGD:1581887 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874 		JBrowse link
G MIR363-1 microRNA mir-363-1 ISO mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr  X:110,113,552...110,113,631
Ensembl chr  X:110,113,549...110,113,633 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:16082623 PMID:16115023 RGD:1582355 RGD:1582356 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP13 matrix metallopeptidase 13 no_association ISO RGD PMID:15156361 PMID:15944607 RGD:1580157 RGD:1582548 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11877705 PMID:15300177 PMID:19010778 RGD:1582579 RGD:1582584 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MMP2 matrix metallopeptidase 2 no_association
treatment 		ISO RGD PMID:11457749 PMID:15238617 PMID:15300177 PMID:16458924 PMID:20016209 More... RGD:1302825 RGD:13207313 RGD:1582579 RGD:1582585 RGD:1582621 RGD:2325698 RGD:8657104 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 RGD:1582641 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment
severity 		ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16432074 PMID:17196988 PMID:21256058 RGD:13207313 RGD:1582641 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
G MYH11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354 		JBrowse link
G NNMT nicotinamide N-methyltransferase susceptibility ISO DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chr 9:41,871,072...41,882,415
Ensembl chr 9:41,870,980...41,882,756 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO mRNA:increased expression:abdominal aorta (human) RGD PMID:16311343 RGD:401827904 NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO RGD PMID:19028049 RGD:6480528 NCBI chr13:91,522,754...91,572,195
Ensembl chr13:91,521,817...91,572,005 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G POSTN periostin ISO protein:increased expression:aorta: RGD PMID:24260297 RGD:10041046 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G SELL selectin L ISO RGD PMID:15998669 RGD:5685707 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444 		JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:20554458 RGD:4144856 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		CTD
RGD		 PMID:17196988 RGD:1625699 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SORT1 sortilin 1 ISO DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 4:110,721,110...110,791,406
Ensembl chr 4:110,720,947...110,789,070 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		JBrowse link
G TYMS thymidylate synthetase susceptibility ISO DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		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 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
Aortic Rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 6:169,751,956...169,758,011
Ensembl chr 6:169,744,568...169,758,283 		JBrowse link
G FBN1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		JBrowse link
G VKORC1 vitamin K epoxide reductase complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 3:17,386,230...17,389,162
Ensembl chr 3:17,386,245...17,389,905 		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 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More... NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 PMID:36517271 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:28492532 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Annuloaortic ectasia ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679 		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 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to ClinVar
OMIM		 PMID:25741868 PMID:26854927 PMID:28492532 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		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 ISO 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 chr 1:168,751,403...169,328,559
Ensembl chr 1:168,751,582...169,323,977 		JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More... NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		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 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr 3:7,248,806...7,387,523
Ensembl chr 3:7,248,827...7,387,518 		JBrowse link
G CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr 3:6,977,195...6,996,024
Ensembl chr 3:6,977,215...6,996,022 		JBrowse link
G MARF1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr 3:7,180,762...7,228,229
Ensembl chr 3:7,180,740...7,228,413 		JBrowse link
G MPV17L MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr 3:7,423,083...7,441,583
Ensembl chr 3:7,427,395...7,441,567 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus OMIM
ClinVar		 PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 More... NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:17666408 More... NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,398...101,125,593 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:36946977 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		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 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:136,439,015...136,502,604
Ensembl chr13:136,438,967...136,486,496 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:21055718 PMID:28492532 PMID:28602422 NCBI chr13:136,834,103...136,933,564
Ensembl chr13:136,834,115...136,933,549 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,268,566...135,358,673
Ensembl chr13:135,298,377...135,358,670 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,653,795...136,277,072 JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More... NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:134,718,351...134,807,152
Ensembl chr13:134,718,450...134,807,146 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:136,395,628...136,428,170 JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,105,723...135,249,124
Ensembl chr13:135,105,896...135,249,120 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:134,824,028...134,903,765
Ensembl chr13:134,824,043...134,905,359 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 ClinVar PMID:28492532 NCBI chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151 		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 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:25640679 PMID:28492532 NCBI chr14:98,104,957...98,109,479
Ensembl chr14:98,105,772...98,110,358 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr14:97,487,854...97,490,118
Ensembl chr14:97,487,226...97,490,288 		JBrowse link
G MBL2 mannose binding lectin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 ClinVar PMID:28492532 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO 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 chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010 		JBrowse link
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition OMIM
ClinVar		 PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 More... NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		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 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
G SMAD3 SMAD family member 3 ISO 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 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO 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 ClinVar PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:23824657 PMID:25741868 PMID:25835445 PMID:28492532 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO 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 		ClinVar PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO 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 		ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR1 transforming growth factor beta receptor 1 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 2A ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections OMIM
ClinVar		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | 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 OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		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 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,430,758...11,466,849
Ensembl chr10:11,428,399...11,466,643 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912 		JBrowse link
G BROX BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,466,173...11,486,983
Ensembl chr10:11,466,004...11,486,974 		JBrowse link
G C10H1orf115 chromosome 10 C1orf115 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714 		JBrowse link
G DISP1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,526,353...11,709,888
Ensembl chr10:11,526,619...11,709,888 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501 		JBrowse link
G FAM177B family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,491,364...11,501,865
Ensembl chr10:11,491,455...11,501,712 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:7,615,121...7,797,227
Ensembl chr10:7,615,604...7,797,214 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,315,847...11,345,043
Ensembl chr10:11,315,849...11,336,308 		JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,263,441...10,269,882
Ensembl chr10:10,264,244...10,269,879 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 9:128,429,232...128,659,662
Ensembl chr 9:128,429,092...128,661,639 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,362,489...11,428,844
Ensembl chr10:11,377,846...11,429,015 		JBrowse link
G MIR194B microRNA mir-194b ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:8,253,798...8,296,143
Ensembl chr10:8,253,822...8,303,860 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,527,523...9,545,493 JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:7,797,448...8,120,892
Ensembl chr10:7,797,502...7,971,824 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,340,637...11,362,432
Ensembl chr10:11,340,642...11,362,432 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:5,825,591...6,662,733 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 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011 		JBrowse link
G GPATCH2L G-patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 7:99,325,536...99,376,291
Ensembl chr 7:99,325,569...99,375,428 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 7:98,822,338...99,090,076
Ensembl chr 7:98,823,871...99,130,915 		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 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar PMID:25741868 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		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 ISO ClinVar Annotator: match by term: PHACE ASSOCIATION ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		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 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21778426 PMID:24804794 PMID:28492532 NCBI chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic 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 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: 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:10532176 PMID:13129918 PMID:14730227 More... NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO protein:increased expression:aorta RGD PMID:20621845 RGD:5129489 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:21358634 PMID:28492532 NCBI chr 1:240,973,022...240,984,816
Ensembl chr 1:240,979,216...240,984,823 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,522,835...240,584,354
Ensembl chr 1:240,522,837...240,584,496 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,842,062...239,868,404
Ensembl chr 1:239,842,067...239,868,403 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:27632686 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:27632686 PMID:38531898 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:14,688,489...14,745,946
Ensembl chr14:14,688,943...14,745,947 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 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: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G COL15A1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,718,128...240,829,188
Ensembl chr 1:240,709,086...240,829,185 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:16786509 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29543232 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm 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 chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:7695699 PMID:7749409 PMID:7929094 PMID:8218237 PMID:8349697 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO protein:increased expression:aorta (human) RGD PMID:29137225 RGD:401851087 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,947,299...240,000,964
Ensembl chr 1:239,947,301...240,000,918 		JBrowse link
G CTSB cathepsin B ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 severity ISO mRNA:increased expression:aorta RGD PMID:16014397 RGD:5135442 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692 		JBrowse link
G DEFB134 defensin beta 134 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:15,171,675...15,176,787
Ensembl chr14:15,170,853...15,176,926 		JBrowse link
G DEFB135 defensin beta 135 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:15,143,118...15,145,096 JBrowse link
G DEFB136 defensin beta 136 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:15,109,961...15,110,778
Ensembl chr14:15,109,002...15,110,878 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:21563328 PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G ERP44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:241,788,801...241,897,432
Ensembl chr 1:241,785,146...241,897,539 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | 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 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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:8900230 More... NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,074...15,016,227 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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: 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: 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: 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 aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1854572 PMID:3265608 PMID:6019437 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976 		JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 More... NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,107,469...240,495,917
Ensembl chr 1:240,107,466...240,496,101 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,595,423...240,639,625
Ensembl chr 1:240,595,394...240,640,563 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 PMID:32748548 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:22641149 PMID:25741868 PMID:28492532 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G HEMGN hemogen ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,790,503...239,834,568
Ensembl chr 1:239,768,176...239,842,595 		JBrowse link
G INVS inversin ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050 		JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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 PMID:9536098 PMID:10405444 PMID:17334363 PMID:17576681 PMID:18414213 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:25434006 PMID:25741868 PMID:28492532 PMID:29618732 PMID:33824467 NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		JBrowse link
G MIR140 microRNA mir-140 ameliorates ISO RGD PMID:32678444 RGD:329347832 NCBI chr 6:17,077,530...17,077,599
Ensembl chr 6:17,077,507...17,077,620 		JBrowse link
G MIR145 microRNA mir-145 ISO RNA:decreased expression:thoracic aorta (human) RGD PMID:30989723 RGD:155260298 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:decreased expression:aorta (human) RGD PMID:15561045 PMID:16820601 RGD:1582351 RGD:1582530 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta 		RGD
CTD		 PMID:16159824 PMID:20621845 RGD:1582608 RGD:5129489 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression:aorta
protein:decreased activity:aorta (human)
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:16159824 PMID:16678588 PMID:16820601 PMID:20621845 RGD:1580554 RGD:1582351 RGD:5129489 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm 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 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 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11727201 More... NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NANS N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,881,984...239,912,727
Ensembl chr 1:239,881,876...239,919,251 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,492,573...239,543,925
Ensembl chr 1:239,492,721...239,535,825 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 More... NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G NEIL2 nei like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm ClinVar PMID:32748548 NCBI chr14:14,945,129...14,966,305
Ensembl chr14:14,945,135...14,966,291 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: 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: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:15472075 PMID:16025100 PMID:16199547 PMID:16614245 More...
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic ClinVar PMID:25741868 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9220536 PMID:9450904 PMID:9536098 PMID:9893157 PMID:10329027 More... NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: 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 PMID:9536098 PMID:16646045 PMID:17576681 PMID:23910461 PMID:24667040 More... NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 PMID:32748548 NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736 		JBrowse link
G SEC61B SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,985,173...240,991,820
Ensembl chr 1:240,985,162...240,992,976 		JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:aorta: RGD PMID:23814118 RGD:13208504 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm 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 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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: 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: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:9536098 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17576681 More... NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 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 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 aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:28492532 PMID:32748548 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:8100215 PMID:12417550 PMID:20929399 PMID:21612403 PMID:22722997 More... NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679 		JBrowse link
G STX17 syntaxin 17 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:241,657,463...241,785,270
Ensembl chr 1:241,657,506...241,765,783 		JBrowse link
G TBC1D2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:240,001,598...240,049,927
Ensembl chr 1:240,002,169...240,049,827 		JBrowse link
G TDRD7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,285,628...239,368,558
Ensembl chr 1:239,271,916...239,368,550 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic 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
ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar 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 chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic 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: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 		ClinVar PMID:7664267 PMID:7862150 PMID:8199354 PMID:8246946 PMID:8555189 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,109,939...125,310,788
Ensembl chr 4:125,110,072...125,316,796 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:25741868 NCBI chr 1:168,751,403...169,328,559
Ensembl chr 1:168,751,582...169,323,977 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO protein:decreased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G TMOD1 tropomodulin 1 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,375,150...239,468,387
Ensembl chr 1:239,396,097...239,467,758 		JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,912,126...239,945,082
Ensembl chr 1:239,912,126...239,945,073 		JBrowse link
G TRMO tRNA methyltransferase O ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,768,664...239,786,932
Ensembl chr 1:239,768,179...239,805,143 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,466,591...239,492,883
Ensembl chr 1:239,466,588...239,492,697 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections ClinVar PMID:20813212 PMID:28492532 NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      cardiovascular system disease 4466
        vascular disease 3079
          Aneurysm 251
            aortic aneurysm 216
              Aortic Aneurysm, Giant Congenital + 1
              Aortic Rupture 7
              Loeys-Dietz syndrome + 47
              abdominal aortic aneurysm + 65
              thoracic aortic aneurysm + 117
Path 2
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      cardiovascular system disease 4466
        vascular disease 3079
          artery disease 1997
            aortic disease 786
              aortic aneurysm 216
                Aortic Aneurysm, Giant Congenital + 1
                Aortic Rupture 7
                Loeys-Dietz syndrome + 47
                abdominal aortic aneurysm + 65
                thoracic aortic aneurysm + 117
paths to the root