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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:artery disease
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Accession:DOID:0050828 term browser browse the term
Definition:A vascular disease that is located_in an artery. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 IMP RGD PMID:24602481 RGD:11039028 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:22539767 PMID:18451329 RGD:5147451 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Apoe apolipoprotein E disease_progression ISO DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855 PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 severity IEP mRNA:increased expression:aorta:
protein:decreased expression:serum (rat)
RGD PMID:15010288 PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:89,639,845...89,680,061
Ensembl chr 3:89,641,833...89,679,997
JBrowse link
G Eln elastin treatment ISO
IDA
RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
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 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
JBrowse link
G Kng1 kininogen 1 IAGP DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023 PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607 PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19010778 PMID:15300177 PMID:11877705 RGD:1582579, RGD:1582584 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association
IEP
IDA
ISO
RGD PMID:20016209 PMID:21256058 PMID:24484904 PMID:15238617 PMID:16458924 More... RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074 PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment
ISO
IDA
CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16432074 PMID:17196988 PMID:16432074 PMID:21256058 RGD:1582641, RGD:1582641, RGD:13207313 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO
mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:17196988 PMID:17196988 RGD:1625699 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
acute myocardial infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO RGD PMID:26476955 RGD:11552746 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 ISO mRNA:decreased expression:blood: RGD PMID:27746059 RGD:13524557 NCBI chr10:92,686,100...92,745,601
Ensembl chr10:92,683,761...92,746,126
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:26550220 RGD:13782284 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:26550220 RGD:13782284 NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IEP RGD PMID:26591365 RGD:13792778 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IEP RGD PMID:24837094 RGD:40813741 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 IEP RGD PMID:24837094 RGD:40813741 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Mir146a microRNA 146a ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir223 microRNA 223 treatment IMP RGD PMID:29689569 RGD:25823140 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Pten phosphatase and tensin homolog IEP mRNA:decreased expression:heart left ventricle (rat) RGD PMID:26973267 RGD:11526378 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Serping1 serpin family G member 1 ISO
IEP
mRNA:increased expression:heart RGD PMID:26476955 PMID:26476955 RGD:11552746, RGD:11552746 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
JBrowse link
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17706090 RGD:7771556 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cat catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epdr1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr17:45,333,677...45,358,597
Ensembl chr17:45,333,956...45,358,594
JBrowse link
G Fermt2 FERM domain containing kindlin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr15:18,682,927...18,751,959
Ensembl chr15:18,682,927...18,751,811
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:18334963 RGD:7488955 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNPs: :rs17576, rs3918249 (human)
RGD PMID:17110919 PMID:23441116 PMID:23441116 PMID:21655354 RGD:8547816, RGD:8549724, RGD:8549724, RGD:8547830 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with Cataract;protein:decreased expression:tear RGD PMID:21139981 RGD:7364742 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)
RGD PMID:20069064 PMID:23422825 RGD:7771573, RGD:7775046 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Tfap2b transcription factor AP-2 beta ISS MouseDO NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3
ClinVar Annotator: match by term: Iridogoniodysgenesis type1
ClinVar Annotator: match by OMIM:601631
OMIM
ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
anterolateral myocardial infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO protein:increased expression:aortic root, coronary sinus, plasma (human) RGD PMID:12581682 RGD:8661757 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:decreased expression, decreased activity:heart: RGD PMID:12615902 PMID:12615902 RGD:13208541, RGD:13208541 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:29689197 NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
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 chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS
ISO
DNA:missense mutation:CDS:p.E161K (human) MouseDO PMID:22440127 RGD:42722009 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Aortic aneurysm
DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:1300362, RGD:7365039 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Klf15 Kruppel-like factor 15 ISS MouseDO NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740 PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm
CTD
ClinVar
PMID:21217753 PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:18313409 RGD:2299005 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 PMID:18313409 RGD:2299005 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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: Familial abdominal aortic aneurysm 1 ClinVar NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
aortic atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:29459263 RGD:13703129 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Capn1 calpain 1 IEP protein:increased activity:aorta RGD PMID:23006733 RGD:13792498 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum,aorta RGD PMID:26065992 RGD:25824846 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Soat1 sterol O-acyltransferase 1 ameliorates ISO associated with Hypercholesterolemia RGD PMID:30282838 RGD:126925208 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
aortic disease 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 aortopathy ClinVar PMID:19409525 PMID:21212136 PMID:21248741 PMID:21937134 PMID:23613326 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:22644855 RGD:7245538 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:7695699 PMID:8218237 PMID:10706896 PMID:18272325 PMID:19344236 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:28492532 NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:21778426 PMID:24804794 PMID:25741868 PMID:28492532 PMID:31098894 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome RGD PMID:25931195 RGD:11062588 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:22772368 PMID:23102774 PMID:25741868 PMID:26854089 PMID:28492532 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:16928994 PMID:23884466 PMID:26848186 PMID:27879313 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:17873024 RGD:2313112 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
aortic dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO mRNA, protein:decreased expression:aorta wall (human) RGD PMID:23518852 RGD:42722606 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic dissection
ClinVar Annotator: match by term: Acute aortic dissection
ClinVar PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
JBrowse link
G Il18rap interleukin 18 receptor accessory protein ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rl2 interleukin 1 receptor-like 2 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:26838787 PMID:30675029 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Slc9a2 solute carrier family 9 member A2 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444
JBrowse link
G Slc9a4 solute carrier family 9 member A4 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,824,468...42,879,767
Ensembl chr 9:42,825,064...42,879,422
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
Aortic Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 IEP RGD PMID:9188065 RGD:10448925 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression:endothelial cell: RGD PMID:2650559 RGD:11079230 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
JBrowse link
aortic valve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 ISS MouseDO NCBI chr18:52,346,448...52,531,245
Ensembl chr18:52,347,428...52,530,509
JBrowse link
G Egfr epidermal growth factor receptor ISS MouseDO NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eln elastin ISS MouseDO NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS MouseDO NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
JBrowse link
G LOC100911068 roundabout homolog 4-like ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:25741868 PMID:30455415 NCBI chr 8:37,119,966...37,133,887 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nos3 nitric oxide synthase 3 ISS MouseDO NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease
ClinVar Annotator: match by term: AORTIC VALVE DISEASE
ClinVar PMID:18593716 PMID:20951801 PMID:25741868 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISS MouseDO NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1
ClinVar Annotator: match by OMIM:109730
ClinVar
OMIM
PMID:9536098 PMID:16025100 PMID:16729972 PMID:17576681 PMID:18593716 More... RGD:1580758 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link
aortic valve disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO protein:decreased expression:aorta wall, nucleus (human) RGD PMID:24560417 RGD:12791292 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23615040 RGD:13204802 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.K192X (human)
DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human)
RGD PMID:25438918 PMID:22179962 RGD:12914790, RGD:12914791 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar Annotator: match by OMIM:614823
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 More... NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 More... NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
JBrowse link
aortic valve disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100911068 roundabout homolog 4-like ISO ClinVar Annotator: match by term: Aortic valve disease 3 OMIM
ClinVar
PMID:25741868 PMID:30455415 NCBI chr 8:37,119,966...37,133,887 JBrowse link
aortic valve insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 IEP
ISO
mRNA:increased expression:left ventricle (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21216836 PMID:19112094 RGD:2314539 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Rheumatic Fever;DNA:polymorphism:exon: RGD PMID:18400978 RGD:12910860 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
aortic valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:1648674 RGD:7241565 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Eno3 enolase 3 IEP mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO mRNA, protein:decreased expression:ventricle endocardium (human) RGD PMID:18805276 RGD:9586018 NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Nppc natriuretic peptide C IEP mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:109730 | OMIM:614823 MouseDO NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
Aortic Valve, Calcification of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 Ensembl chr MT:7,919...8,599 JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy OMIM
ClinVar
PMID:21686774 Ensembl chr MT:7,758...7,961 JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:8610157 PMID:9754958 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:missense mutations:cds:p.G342V, p.Y371F (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
CTD PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
ARTERIAL DISSECTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Predisposition to dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:9536098 PMID:17576681 PMID:28166811 PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
arteriolosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum: RGD PMID:22863782 RGD:7175516 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
arteriosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility ISO RGD PMID:11099417 RGD:1300331 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO RGD PMID:11099417 RGD:1300331 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO mRNA:increased expression:atherosclerotic lesions (human) RGD PMID:15961705 RGD:1581042 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:16675724 RGD:1601111 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO RGD PMID:18204784 RGD:2313033 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental RGD PMID:16127462 RGD:1626081 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte RGD PMID:3949078 RGD:2300309 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD
GAD
PMID:14702425 PMID:15118671 RGD:734559, RGD:1331525 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA:increased expression:atherosclerotic lesions (human)
mRNA:increased expression:aorta, adipose tissue (mouse)
RGD PMID:18258817 PMID:17379835 RGD:2313905, RGD:2313913 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO protein:decrease expression:serum RGD PMID:17010978 RGD:1601172 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO
IDA
associated with Kidney Failure, Chronic GAD
RGD
PMID:15118671 PMID:20639628 RGD:1331525, RGD:5508221 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apob apolipoprotein B ISO associated with Obesity RGD PMID:19260948 RGD:2312763 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17118406 PMID:18287887 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:serum RGD PMID:6613192 RGD:2313992 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G B2m beta-2 microglobulin ISO associated with Kidney Diseases RGD PMID:16221094 RGD:2311212 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta RGD PMID:18093596 RGD:2306988 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO
IEP
protein:increased secretion:serum (mouse)
protein:increased expression:plasma
RGD PMID:19752857 PMID:16259780 PMID:14656931 RGD:4891452, RGD:2307165, RGD:4890030 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:17138939 RGD:4890431 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule severity ISO protein:increased expression:plasma RGD PMID:18723424 RGD:2307207 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cdh13 cadherin 13 ISO protein:increased expression:aorta RGD PMID:11326751 RGD:2293555 NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased expression:artery, plaque, macrophage (human) RGD PMID:10073974 RGD:4892604 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:12600915 RGD:4891900 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO protein:increased expression:aorta RGD PMID:15242861 RGD:2298676 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Egr1 early growth response 1 ISO mRNA, protein:increased expression:carotid artery, plaque (human)
protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse)
RGD PMID:10712437 PMID:21099169 PMID:14670837 RGD:5131645, RGD:5131874, RGD:5131652 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:17903303 RGD:4892301 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:11941274 RGD:1581023 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F7 coagulation factor VII severity ISO protein:increased activity:plasma (human) RGD PMID:9569183 RGD:2312403 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Faslg Fas ligand ISO RGD PMID:14739407 RGD:1582424 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fbln5 fibulin 5 ISO RGD PMID:10428823 RGD:69830 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO RGD PMID:15756593 RGD:1582622 NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17420349 RGD:2306610 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15064094 PMID:20177342 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
JBrowse link
G Hgf hepatocyte growth factor severity ISO protein:increased expression:serum: RGD PMID:9350587 RGD:8548601 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12958201 RGD:1598395 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin susceptibility ISO associated with Hypertension;DNA:polymorphism RGD PMID:8228210 PMID:17068284 RGD:1626352, RGD:1626340 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:17070529 RGD:1624204 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Icos inducible T-cell co-stimulator ISO RGD PMID:17060381 RGD:1624268 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO RGD PMID:20655098 RGD:6480271 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:blood RGD PMID:15625284 RGD:2313768 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood RGD PMID:15625284 RGD:2313768 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16523426 PMID:12765335 RGD:1598477, RGD:1598469 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il15 interleukin 15 ISO mRNA:increased expression:macrophage, aorta
mRNA:increased expression:carotid
RGD PMID:11485899 PMID:11485899 RGD:1626612, RGD:1626612 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il18bp interleukin 18 binding protein ISO RGD PMID:11577031 RGD:4892618 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO
IEP
DNA:SNP:promoter
associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte
associated with Chlamydia Infections
RGD PMID:17213232 PMID:17189873 PMID:17132885 RGD:1626624, RGD:1626627, RGD:1626629 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer susceptibility ISO DNA:SNPs RGD PMID:17664290 PMID:17664290 RGD:1626686, RGD:1626686 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Itga1 integrin subunit alpha 1 ISO atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice (mouse) RGD PMID:15976328 RGD:2302133 NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:11978651 RGD:1582304 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga7 integrin subunit alpha 7 IEP Atherogenesis RGD PMID:14988073 RGD:1600025 NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:12746502 RGD:5100478 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Kdr kinase insert domain receptor IEP
ISO
RGD PMID:15665766 PMID:16873710 RGD:1581706, RGD:1581713 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890 PMID:9363890 RGD:10403047 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Lcat lecithin cholesterol acyltransferase susceptibility ISO RGD PMID:12673583 PMID:12673583 RGD:1581779, RGD:1581779 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11460888 RGD:1581846 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lipe lipase E, hormone sensitive type IDA
ISO
RGD PMID:10064727 PMID:10729384 RGD:1581868, RGD:1581867 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:15304490 RGD:1581874 NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
JBrowse link
G Lmna lamin A/C IEP protein:increased expression:aorta RGD PMID:16620292 RGD:2302364 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lox lysyl oxidase IDA RGD PMID:24127 RGD:1581899 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Lrp1 LDL receptor related protein 1 susceptibility ISO associated with Hypercholesterolemia RGD PMID:17303763 PMID:14739216 RGD:1625012, RGD:1581910 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11809756 RGD:1581936 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Ltb4r leukotriene B4 receptor ISO RGD PMID:16043658 RGD:1581956 NCBI chr15:29,263,126...29,265,716 JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO RGD PMID:15567863 RGD:1582314 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:femoral artery, atherosclerotic lesions (human) RGD PMID:17405187 RGD:2317493 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:8200973 RGD:1582504 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:17435771 RGD:1641949 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15621056 RGD:1582525 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16221765 RGD:1582354 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp13 matrix metallopeptidase 13 susceptibility ISO RGD PMID:12392760 PMID:16230484 RGD:1582549, RGD:1582544 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP RGD PMID:12526080 RGD:1582580 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:12526080 RGD:1582580 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:15823277 RGD:1580550 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA
ISO
RGD PMID:16317521 PMID:15823277 RGD:1582628, RGD:1580550 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO RGD PMID:14664792 PMID:15567863 PMID:9069289 RGD:2306130, RGD:1582314, RGD:1582669 NCBI chr16:52,717,775...52,802,890
Ensembl chr16:52,717,732...52,799,676
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 IEP protein:increased expression:aorta RGD PMID:16620292 RGD:2302364 NCBI chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:decreased expression:artery RGD PMID:17272673 RGD:2299058 NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:16627802 RGD:1642131 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:14736551 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:18802018 RGD:6480862 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:17218600 RGD:1642183 NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113
JBrowse link
G Nppc natriuretic peptide C ISO RGD PMID:8989116 RGD:1642296 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
JBrowse link
G Npy neuropeptide Y ISO DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:19295309 RGD:6480535 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Pappa1 pappalysin 1 ISO protein:increased expression:serum
mRNA:increased expression:aorta
RGD PMID:16614002 PMID:17510462 RGD:1642326, RGD:1642325 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Pla2g15 phospholipase A2, group XV ISO RGD PMID:15781238 RGD:1582126 NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Metabolic Syndrome X RGD PMID:16627808 RGD:2313273 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:15967870 RGD:8553041 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Prdx6 peroxiredoxin 6 ISO RGD PMID:15488866 RGD:1580711 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:16020747 RGD:1581284 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity
resistance
ISO RGD PMID:17643885 PMID:17643885 PMID:16458279 RGD:1642592, RGD:1642592, RGD:1581287 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:aorta RGD PMID:18637019 RGD:2298774 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Senp1 SUMO specific peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598
JBrowse link
G Serpina1 serpin family A member 1 disease_progression ISO DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12692006 PMID:12692006 RGD:1643145 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:17431188 RGD:1625282 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
JBrowse link
G Tbxa2r thromboxane A2 receptor TAS RGD PMID:11777901 RGD:619549 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
G Tbxas1 thromboxane A synthase 1 IDA RGD PMID:11331452 RGD:1601459 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:aorta RGD PMID:16733295 RGD:1580959 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO protein:increased expression:aorta RGD PMID:16733295 RGD:1580959 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNP: :c.896A>G (human) RGD PMID:16890863 RGD:1624159 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO protein:increased expression:carotid artery, atherosclerotic lesions (human) RGD PMID:11742877 RGD:2317295 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO RGD PMID:17442899 RGD:1624181 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17000905 RGD:2312742 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vcan versican TAS RGD PMID:10397680 RGD:632588 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
arteriosclerosis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO RGD PMID:10822072 RGD:1601656 Ensembl chr11:80,182,820...80,188,167 JBrowse link
atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022523 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11138003 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Add1 adducin 1 ISO DNA:missense mutation:cds:p.G460W (human) RGD PMID:17082469 RGD:5147995 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic CTD PMID:18931039 PMID:12451000 RGD:8694473 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human)
CTD PMID:19939336 PMID:20372816 PMID:22552116 PMID:23936343 PMID:22038096 More... RGD:6784514, RGD:8695994, RGD:7245947, RGD:6767557, RGD:6784516, RGD:6784515 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen treatment IMP
ISO
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:21925196 PMID:22539767 PMID:22977667 RGD:8549467 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228805 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akt1 AKT serine/threonine kinase 1 severity ISO RGD PMID:18054314 RGD:5509083 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:16303615 PMID:18206890 RGD:5509610 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:18287885 PMID:23078847 RGD:7241575, RGD:7241852 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: therapeutic CTD PMID:15822908 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoe apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:9169506 PMID:9409251 PMID:9649566 PMID:11095717 PMID:11231916 More... RGD:734968, RGD:7771549 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bcl3 BCL3, transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25374339 NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
JBrowse link
G Casp3 caspase 3 treatment IEP associated with type 2 diabetes mellitus RGD PMID:29213335 RGD:13792600 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casr calcium-sensing receptor ISO
IEP
protein:decreased expression:tibial artery (human)
protein:increased expression:myocardium (rat)
RGD PMID:18852253 PMID:22527939 RGD:7205454, RGD:7205672 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cav1 caveolin 1 treatment IEP RGD PMID:23675421 RGD:8662275 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment
severity
ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:aorta (mouse)
CTD PMID:12677255 PMID:12928151 PMID:20720404 PMID:11486244 PMID:15823270 RGD:8548896, RGD:7401235 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24370436 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24370436 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:16763157 RGD:8549763 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:24114205 RGD:7483610 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd36 CD36 molecule treatment ISO
IEP
RGD PMID:19264766 PMID:26003171 PMID:20037584 RGD:6893502, RGD:11041151, RGD:6893559 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd40 CD40 molecule treatment ISO
IDA
IEP
associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta
associated with Hypercholesterolemia
RGD PMID:20505314 PMID:23984971 PMID:23984971 PMID:16317521 RGD:5490534, RGD:8547801, RGD:8547801, RGD:1582628 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO
IDA
IEP
associated with Hypercholesterolemia
protein:increased expression:plasma
RGD PMID:20705757 PMID:26261622 PMID:23984971 PMID:16317521 PMID:21817131 RGD:5490529, RGD:11344965, RGD:8547801, RGD:1582628, RGD:7248421 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
JBrowse link
G Clu clusterin treatment IDA RGD PMID:15961700 RGD:9068390 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:15815632 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO DNA:SNP: :rs72657934(human) RGD PMID:28642624 RGD:13450936 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:16931792 PMID:18535598 RGD:9491769 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 ISO protein:increased expression:plasma (mouse)
associated with Kidney Failure, Chronic
RGD PMID:9637704 PMID:16166801 RGD:734837, RGD:7257575 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:12213722 RGD:5687152 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsd cathepsin D ISO RGD PMID:12213722 RGD:5687152 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:12213722 RGD:5687152 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Ctss cathepsin S ISO RGD PMID:12213722 RGD:5687152 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:23887641 RGD:9479739 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11166758 PMID:19801147 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:16806235 RGD:8661682 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 treatment ISO RGD PMID:26848160 RGD:11251766 NCBI chr19:52,867,914...52,907,169 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO RGD PMID:20224052 RGD:5688357 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
JBrowse link
G Esr1 estrogen receptor 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:11894143 PMID:11160157 RGD:8553067 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21697723 RGD:5508792 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F11r F11 receptor ISO mRNA:increased expression:carotid artery RGD PMID:15681301 RGD:7488921 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:20979870 RGD:7387315 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fas Fas cell surface death receptor treatment IEP associated with type 2 diabetes mellitus RGD PMID:29213335 RGD:13792600 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa onset ISO DNA:polymorphism: :p.H131R (human) RGD PMID:19490059 RGD:5147923 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:17053192 RGD:7240526 NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: RGD PMID:26047614 RGD:10401919 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Grn granulin precursor ISO protein:increased expression:smooth muscle cell, macrophage RGD PMID:19321167 RGD:5509781 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822795 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hmgb1 high mobility group box 1 treatment IEP RGD PMID:20519084 RGD:10402182 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:internal carotid artery, smooth muscle cell (human) RGD PMID:18508286 RGD:10054381 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
JBrowse link
G Hp haptoglobin treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16597321 PMID:23665315 RGD:11041860 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25020133 NCBI chr 4:147,564,781...147,649,353
Ensembl chr 4:147,645,995...147,647,455
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP:promoter:-110A>C(rs1008438) (human) RGD PMID:20490736 PMID:22328194 RGD:5147595, RGD:7257649
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513158 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9169506 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11726660 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:21300351 RGD:9170237 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 treatment IEP
ISO
RGD PMID:23685195 PMID:16732281 RGD:8655997, RGD:14695532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO associated with Renal Insufficiency, Chronic RGD PMID:21245127 RGD:7175328 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 ISO associated with Diabetes Mellitus, Type 1 RGD PMID:21606463 RGD:5147904 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il27 interleukin 27 ameliorates ISO RGD PMID:23729211 RGD:39456136 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:17303776 RGD:8551768 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kl Klotho ISO RGD PMID:11027545 RGD:10403056 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IMP
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutation:exon:478T > A(rat)
CTD PMID:11947894 PMID:18450471 PMID:22153697 PMID:25619500 PMID:28899902 More... RGD:5490255, RGD:12910105 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lta4h leukotriene A4 hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
JBrowse link
G Mir146a microRNA 146a severity ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir155 microRNA 155 treatment
severity
ISO associated with Bacteremia
miRNA:decreased expression:peripheral blood mononuclear cell, plasma
RGD PMID:28970282 PMID:28646427 PMID:31866771 PMID:27856635 RGD:21079445, RGD:24922209, RGD:21081515, RGD:21079446 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir21 microRNA 21 severity ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum,artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mmp1 matrix metallopeptidase 1 susceptibility ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism
CTD PMID:21742783 PMID:11375412 RGD:7207025 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
RGD PMID:16317521 PMID:20370796 RGD:1582628, RGD:8657031 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) RGD PMID:17899317 RGD:6893579 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28062492 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:coronary artery (human) RGD PMID:11689207 RGD:5508382 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:adventitia, vasa vasorum (human) RGD PMID:11689207 RGD:5508382 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:24324141 RGD:8158039 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:exon:c.894G>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:12677255 PMID:20720404 PMID:21114134 PMID:12163452 RGD:7771564, RGD:7771607 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18483620 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Nppb natriuretic peptide B susceptibility ISO associated with Renal Insufficiency, chronic;protein:increased expression:blood:
associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human)
RGD PMID:22863432 PMID:19413180 RGD:7247628, RGD:7248594 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Npy neuropeptide Y severity ISO RGD PMID:21468772 RGD:10448273 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:21468772 RGD:10448273 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:30996006 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18093987 PMID:19124646 PMID:18093987 RGD:5683916 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:11413086 RGD:10449506 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity
resistance
ISO protein:increased expression:carotid artery (human) RGD PMID:22053073 PMID:21960570 PMID:17659202 RGD:6771176, RGD:6771359, RGD:6771223 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pgf placental growth factor ISO RGD PMID:19952000 RGD:6483589 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma severity ISO RGD PMID:17483449 RGD:1642394 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:19237014 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) RGD PMID:21970837 PMID:12590019 RGD:6482784, RGD:7248796 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12677255 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plau plasminogen activator, urokinase ISO associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) RGD PMID:17706748 PMID:15096455 RGD:7241201, RGD:7241203 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pltp phospholipid transfer protein ISO protein:increased expression:coronary artery (human) RGD PMID:12835223 RGD:1581039 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Atherosclerosis, susceptibility to ClinVar PMID:15732116 PMID:15937083 PMID:18413368 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Pon1 paraoxonase 1 susceptibility
treatment
ISO mRNA:altered expression::human transgene expression in ApoE-KO mice was protective
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Beta-Thalassemia;protein:decreased activity:serum (human)
CTD PMID:16216721 PMID:16229851 PMID:16331452 PMID:19371607 PMID:21629682 More... RGD:5509927, RGD:11552582, RGD:8547574, RGD:8547562 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:altered expression::human transgene expression in ApoE-KO mice was protective RGD PMID:20182519 RGD:5509927 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO protein:increased expression:aortic sinus, endothelium (mouse)
CTD Direct Evidence: therapeutic
CTD PMID:18269830 PMID:15779851 RGD:8552894 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO protein:decreased expression:mammary arteries (human) RGD PMID:14736553 RGD:5688075 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Sell selectin L ISO RGD PMID:21760899 RGD:5685675 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Selp selectin P ISO
IEP
protein:increased expression:aorta RGD PMID:19834105 PMID:22340239 RGD:6478699, RGD:6480102 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sirt1 sirtuin 1 IEP
ISO
associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:20068143 PMID:21810449 RGD:9585743 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Soat1 sterol O-acyltransferase 1 ameliorates ISO myeloid knockout RGD PMID:31495784 RGD:126925203 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:decreased expression:thoracic aorta (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:20720404 PMID:20347443 RGD:8655856 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12677255 PMID:20720404 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:17466307 RGD:8552973 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12124407 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 PMID:15823270 RGD:7401235 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trim28 tripartite motif-containing 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351049 NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21908651 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Ucn2 urocortin 2 ISO protein:increased expression:coronary artery, endothelium (human) RGD PMID:16026900 RGD:5508308 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atherosclerosis, susceptibility to
CTD
ClinVar
PMID:15732116 PMID:15937083 PMID:18413368 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vegfc vascular endothelial growth factor C ISO associated with hypercholesterolemia;protein:increased expression:serum: RGD PMID:22206010 RGD:7483588 NCBI chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848
JBrowse link
G Vim vimentin ISO associated with arthritis,rheumatoid RGD PMID:21362765 RGD:6480618 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22
ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
JBrowse link
bicuspid aortic valve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100911068 roundabout homolog 4-like ISO ClinVar Annotator: match by term: Bicuspid aortic valve
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:30455415 NCBI chr 8:37,119,966...37,133,887 JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19350115 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:18495510 Ensembl chr MT:7,919...8,599 JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar Ensembl chr MT:7,758...7,961 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:30455415 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Pdia2 protein disulfide isomerase family A, member 2 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:30455415 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by OMIM:231300
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
OMIM
ClinVar
PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 More... RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:15,375,496...15,441,480
JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:24840674 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
Cardiac Allograft Vasculopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor IEP RGD PMID:9916935 RGD:11341701 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Pdgfd platelet derived growth factor D ISO RGD PMID:19213942 RGD:9854642 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
JBrowse link
Cardiogenic Shock term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:1430592 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062213 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
carotid artery disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP
protein:increased expression:hippocampus, cerebral cortex (rat) RGD PMID:21906738 PMID:21813211 RGD:6767557, RGD:7245955 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
CTD Direct Evidence: marker/mechanism
CTD PMID:12911327 PMID:17220293 RGD:1601136 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C RGD PMID:16519598 RGD:1601148 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G B2m beta-2 microglobulin disease_progression ISO RGD PMID:21546482 RGD:6482703 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:SNP:promotor
associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human)
RGD PMID:16873708 PMID:15640605 RGD:2314156, RGD:7204441 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd40lg CD40 ligand disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet
RGD PMID:16752185 PMID:15817881 RGD:2314211, RGD:2314188 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd63 Cd63 molecule disease_progression ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet RGD PMID:15817881 RGD:2314188 NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178
JBrowse link
G Ctss cathepsin S ISO RGD PMID:9691094 RGD:5687151 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgb fibrinogen beta chain ISO RGD PMID:9514419 RGD:1580383 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Gnb3 G protein subunit beta 3 ISO RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16973168 PMID:16973168 RGD:5490250 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hfe homeostatic iron regulator no_association ISO RGD PMID:16886838 RGD:1582684 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hgf hepatocyte growth factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum RGD PMID:16759302 RGD:2313566 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum RGD PMID:16579988 RGD:1581882 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO mRNA, protein:decreased expression:carotid artery RGD PMID:16620836 RGD:1624254 NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16181175 RGD:1598446 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16801669 RGD:1598484 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) RGD PMID:17065682 PMID:17065682 RGD:1581937, RGD:1581937 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Ltb4r leukotriene B4 receptor IDA RGD PMID:16293697 RGD:1581954 NCBI chr15:29,263,126...29,265,716 JBrowse link
G Lum lumican ISO RGD PMID:15970583 RGD:1582117 NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO RGD PMID:15073384 RGD:1582361 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16339461 RGD:1582626 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19198612 NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO mRNA:increased expression:carotid artery RGD PMID:17283255 RGD:1642340 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Pappa1 pappalysin 1 ISO associated with Hyperlipidemia;protein:increased expression:serum RGD PMID:12524241 RGD:1642330 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Pgf placental growth factor severity ISO RGD PMID:17157858 RGD:6483596 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22499993 RGD:6482769 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10512912 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO RGD PMID:15284449 RGD:1580688 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Prl prolactin susceptibility ISO protein:decreased expression:serum RGD PMID:17626900 RGD:1642555 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO associated with Hypertension;DNA:polymorphism:3'utr:4111A>C RGD PMID:15325247 RGD:1642582 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Selplg selectin P ligand ISO DNA:polymorphism: :p.M62I (human) RGD PMID:22307784 RGD:6218985 NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12732398 RGD:1580838 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:12801623 RGD:1581414 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:17119348 RGD:1601556 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:15258789 RGD:1580737 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO protein:increased expression:serum RGD PMID:15117849 PMID:15117849 RGD:1624168, RGD:1624168 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16973168 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:15604415 RGD:1580793 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19717975 RGD:2312760 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vwf von Willebrand factor ISO associated with Kidney Failure, Chronic RGD PMID:20439183 RGD:7207026 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Xdh xanthine dehydrogenase ISO associated with Hypertension;DNA:SNP:intron:69901A>C (human) RGD PMID:18712049 RGD:7247654 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
carotid artery dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
Carotid Artery Dissection, Internal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
Carotid Artery Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IMP RGD PMID:21680901 RGD:7245963 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IEP mRNA:increased expression:artery: RGD PMID:9918604 RGD:10047106 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP RGD PMID:16118253 RGD:5509614 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Cbl Cbl proto-oncogene IEP protein:hyperphosphorylation:tyrosine: RGD PMID:18663086 RGD:11038825 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO
IDA
human gene in rat model RGD PMID:12223446 PMID:15353495 RGD:8549774, RGD:11526152 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:arterial wall (rat) RGD PMID:19570811 RGD:2314490 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccna2 cyclin A2 IEP mRNA:increased expression:artery: RGD PMID:18667424 RGD:10054494 NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator disease_progression IEP RGD PMID:10623660 RGD:11341688 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Csf3 colony stimulating factor 3 IEP protein:increased expression:smooth muscle cell: RGD PMID:15385271 RGD:11039423 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:9546380 RGD:7771579 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Foxo3 forkhead box O3 IEP RGD PMID:15662024 RGD:10402197 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Gc GC, vitamin D binding protein IEP protein:decreased expression:plasma RGD PMID:21416056 RGD:5509868 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Hdac4 histone deacetylase 4 IEP protein:increased expression:carotid artery: RGD PMID:19389706 RGD:9681448 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like IEP RGD PMID:11971902 RGD:625426 NCBI chr 5:135,508,160...135,525,152
Ensembl chr 5:135,508,160...135,525,152
JBrowse link
G Hp haptoglobin IEP RGD PMID:19012726 RGD:11041814 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:20368503 RGD:4145429 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum,carotid artery: RGD PMID:12490968 RGD:10046051 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IEP protein:increased phosphorylation:carotid artery: RGD PMID:17606126 RGD:10046006 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il18 interleukin 18 IMP
IEP
protein:increased expression:carotid artery RGD PMID:16864728 PMID:19955748 RGD:4889500, RGD:4889159 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO human gene in rat model RGD PMID:12754378 RGD:2316108 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itgb3 integrin subunit beta 3 IEP protein:increased expression:carotid artery RGD PMID:17868879 RGD:4892652 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Jag1 jagged canonical Notch ligand 1 IEP protein:increased expression:carotid artery RGD PMID:21330605 RGD:6482230 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased activity:carotid artery: RGD PMID:14638553 RGD:10412321 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:carotid artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:9327785 RGD:8547910 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA
IMP
IEP
mRNA:increased expression:carotid artery (rat) RGD PMID:23178522 PMID:8113414 PMID:22546228 RGD:7207861, RGD:10059612, RGD:7240535 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:carotid artery: RGD PMID:11003588 RGD:11533926 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29207649 RGD:13504723 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch1 notch receptor 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Notch3 notch receptor 3 IEP RGD PMID:11971902 RGD:625426 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 IEP protein:increased expression:blood vessel: RGD PMID:15044192 RGD:10413907 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IEP mRNA,protein:increased expression:artery: RGD PMID:12649739 RGD:11556213 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pdgfd platelet derived growth factor D IEP protein:increased expression:carotid artery: RGD PMID:18258854 RGD:9854624 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
JBrowse link
G Plat plasminogen activator, tissue type IEP mRNA, protein:increased expression, increased activity:carotid artery (rat) RGD PMID:8343497 RGD:11537479 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:artery: RGD PMID:15514205 RGD:10040973 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO mouse gene in a rat model RGD PMID:19339015 RGD:8553019 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
ISO
mouse gene in a rat model RGD PMID:22892143 PMID:19553562 RGD:7242065, RGD:2311405 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IEP protein:increased expression:aorta tunica intima, aorta tunica media RGD PMID:12117720 RGD:39456082 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rangap1 RAN GTPase activating protein 1 IEP protein:increased expression:carotid artery, intima (rat) RGD PMID:24988324 RGD:9835414 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IDA RGD PMID:11107082 RGD:5144055 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:25617690 RGD:11075082 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:17525281 RGD:8618841 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sp1 Sp1 transcription factor IEP protein:increased phosphorylation:smooth muscle cell: RGD PMID:18258854 RGD:9854624 NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 IEP mRNA,protein:increased expression:carotid artery: RGD PMID:20537494 RGD:11060271 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
JBrowse link
carotid artery occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Carotid artery occlusion ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Carotid artery occlusion ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr11:83,664,517...83,675,593
Ensembl chr