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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)
Synonyms:primary_id: RDO:9002791
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081, PMID:20937366, PMID:22539767, PMID:25301841, PMID:30354818 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:14,889,263...15,060,286
Ensembl chr 3:14,889,510...15,060,286
JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:93,176,257...93,216,484
Ensembl chr 3:93,178,163...93,216,495
JBrowse link
G Eln elastin treatment ISO
IDA
RGD PMID:15944607, PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944, PMID:18414213, PMID:25741868 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4 interleukin 4 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Kng1 kininogen 1 IMP RGD PMID:15238617 RGD:1302825 NCBI chr11:81,421,672...81,444,466
Ensembl chr11:81,421,676...81,444,621
JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023, PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607, PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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 chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association
IEP
IDA
ISO
RGD PMID:20016209, PMID:21256058, PMID:24484904, PMID:15238617, PMID:16458924, PMID:15300177 RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074, PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297, PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 ISO mRNA:decreased expression:blood: RGD PMID:27746059 RGD:13524557 NCBI chr10:95,954,160...96,015,484
Ensembl chr10:95,951,234...96,015,499
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:26550220 RGD:13782284 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:26550220 RGD:13782284 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IEP RGD PMID:26591365 RGD:13792778 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Mir146a microRNA 146a ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir223 microRNA 223 treatment IMP RGD PMID:29689569 RGD:25823140 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
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 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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 chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Cat catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875, PMID:27064256 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE ClinVar PMID:30007336 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Epdr1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr17:47,397,558...47,422,183
Ensembl chr17:47,397,558...47,422,182
JBrowse link
G Fermt2 fermitin family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr15:19,807,806...19,876,557
Ensembl chr15:19,807,808...19,876,408
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:18334963 RGD:7488955 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 1:214,725,482...214,756,653 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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875, PMID:27064256 NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Tfap2b transcription factor AP-2 beta ISS MouseDO NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
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, PMID:19668217, PMID:19793056, PMID:25741868, PMID:28492532, PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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, PMID:25741868, PMID:28492532, PMID:32499604 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ascending aortic dilation ClinVar PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS MouseDO NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Aortic dilatation
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, PMID:12938084, PMID:14695540, PMID:15241795, PMID:17627385, PMID:17657824, PMID:19159394, PMID:19293843, PMID:21907952, PMID:24033266, PMID:24161884, PMID:24833718, PMID:25741868, PMID:25907466, PMID:26333736, PMID:27146836, PMID:27611364, PMID:28492532, PMID:29357934, PMID:30311386, PMID:30675029, PMID:30739908, PMID:7762551, PMID:24071006 RGD:1300362, RGD:7365039 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:30311386 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Klf15 Kruppel-like factor 15 ISS MouseDO NCBI chr 4:122,364,688...122,377,690
Ensembl chr 4:122,365,093...122,377,659
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms
ClinVar Annotator: match by term: Ascending aortic dilation
ClinVar PMID:26017485, PMID:28492532, PMID:30311386 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912, PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740, PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic dilatation
ClinVar Annotator: match by term: Aortic aneurysm
CTD
ClinVar
PMID:21217753, PMID:25741868, PMID:28492532, PMID:29543232, PMID:29907982, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:18313409 RGD:2299005 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16885183, PMID:30311386, PMID:18313409 RGD:2299005 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Capn1 calpain 1 IEP protein:increased activity:aorta RGD PMID:23006733 RGD:13792498 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum,aorta RGD PMID:26065992 RGD:25824846 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
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, PMID:24243736, PMID:24621862, PMID:25741868, PMID:25759435, PMID:26153420, PMID:27481187, PMID:27567161, PMID:27611364, PMID:28492532, PMID:29907982 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:22644855 RGD:7245538 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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, PMID:24033266, PMID:24922459, PMID:25741868, PMID:25758994, PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome RGD PMID:25931195 RGD:11062588 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:22772368, PMID:23102774, PMID:26854089, PMID:28492532, PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:17873024 RGD:2313112 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
aortic dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Acute aortic dissection
ClinVar Annotator: match by term: Aortic dissection
ClinVar PMID:8040326, PMID:8541880, PMID:8791520, PMID:9399842, PMID:9401003, PMID:9452085, PMID:10633129, PMID:11143906, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:12203987, PMID:12446365, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15241795, PMID:16222657, PMID:16971892, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17679947, PMID:18087243, PMID:18435798, PMID:18615205, PMID:19089573, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19618372, PMID:19839986, PMID:19863550, PMID:21895641, PMID:21932315, PMID:22772377, PMID:23506379, PMID:24033266, PMID:24161884, PMID:24199744, PMID:24793577, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25637381, PMID:25741868, PMID:25812041, PMID:25944730, PMID:26272055, PMID:26621581, PMID:26787436, PMID:27112580, PMID:27153395, PMID:27582083, PMID:28492532, PMID:28655553, PMID:28659821, PMID:29357934 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:26838787, PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ascending aortic dissection
ClinVar Annotator: match by term: Aortic dissection
ClinVar PMID:25741868, PMID:28492532, PMID:29543232, PMID:29907982, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression:endothelial cell: RGD PMID:2650559 RGD:11079230 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
aortic valve disease 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: Aortic valve disease ClinVar PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Egfr epidermal growth factor receptor ISS MouseDO NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin ISS MouseDO NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS MouseDO NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nos3 nitric oxide synthase 3 ISS MouseDO NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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:16025100, PMID:16729972, PMID:18593716, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982, PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISS MouseDO NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
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 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19350115 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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 STENOSIS, CALCIFIC
ClinVar Annotator: match by OMIM:109730
ClinVar
OMIM
PMID:16025100, PMID:16729972, PMID:18593716, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982, PMID:16025100 RGD:1580758 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
aortic valve disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Aortic valve stenosis ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Lmna lamin A/C ISO protein:decreased expression:aorta wall, nucleus (human) RGD PMID:24560417 RGD:12791292 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23615040 RGD:13204802 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
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:22275001, PMID:25741868, PMID:27606499, PMID:28492532, PMID:28659821, PMID:30796334, PMID:30848080 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
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:8988164, PMID:8988165, PMID:10077612, PMID:10077762, PMID:11431700, PMID:11555635, PMID:12499378, PMID:12789647, PMID:15710732, PMID:16183809, PMID:16380715, PMID:16917909, PMID:17534187, PMID:18706711, PMID:19648116, PMID:20450920, PMID:20519243, PMID:21637475, PMID:21897873, PMID:24033266, PMID:24664498, PMID:25260786, PMID:25263169, PMID:25500235, PMID:25623069, PMID:25680289, PMID:25741868, PMID:25931334, PMID:26219450, PMID:26401820, PMID:26762269, PMID:26859351, PMID:28492532, PMID:30143665 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
Aortic Valve Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 OMIM
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
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 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:30311386 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr11:65,791,196...65,845,721
Ensembl chr11:65,782,567...65,845,418
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Rheumatic Fever;DNA:polymorphism:exon: RGD PMID:18400978 RGD:12910860 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:30311386 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
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 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Aortic stenosis ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eno3 enolase 3 IEP mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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 chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Nppc natriuretic peptide C IEP mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
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:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:109730 | OMIM:614823 MouseDO NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
ClinVar Annotator: match by term: AORTIC STENOSIS, CALCIFIC
CTD
ClinVar
PMID:16025100, PMID:16729972, PMID:18593716, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 NCBI chr MT:7,919...8,599
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 NCBI chr MT:7,758...7,961
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
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239, PMID:1679289, PMID:2111584, PMID:9754958, PMID:9848098, PMID:10821838, PMID:11311152, PMID:11409420, PMID:11441013, PMID:11528419, PMID:12654973, PMID:15502844, PMID:16178030, PMID:18413473, PMID:19225789, PMID:20228223, PMID:20697050, PMID:24878480, PMID:25741868, PMID:26104569, PMID:26402770, PMID:27000221, PMID:27858710, PMID:28350801, PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:missense mutations:cds:p.G342V, p.Y371F (human)
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
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)
ClinVar
CTD
PMID:10480624, PMID:11739459, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:16025115, PMID:16607460, PMID:16968801, PMID:15940697, PMID:23798568, PMID:20016754, PMID:12881724 RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
ARTERIAL DISSECTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:10739762, PMID:17211858, PMID:23587214, PMID:25597651, PMID:25741868, PMID:28102596, PMID:28492532, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Predisposition to dissection ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 onset
susceptibility
IAGP
ISO
RGD PMID:16026620, PMID:11099417 RGD:1598659, RGD:1300331 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO RGD PMID:11099417 RGD:1300331 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO mRNA:increased expression:atherosclerotic lesions (human) RGD PMID:15961705 RGD:1581042 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:16675724 RGD:1601111 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO RGD PMID:18204784 RGD:2313033 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental RGD PMID:16127462 RGD:1626081 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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 chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD
GAD
PMID:14702425, PMID:15118671 RGD:734559, RGD:1331525 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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 chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO protein:decrease expression:serum RGD PMID:17010978 RGD:1601172 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO associated with Obesity RGD PMID:19260948 RGD:2312763 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17118406, PMID:18287887 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:serum RGD PMID:6613192 RGD:2313992 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G B2m beta-2 microglobulin ISO associated with Kidney Diseases RGD PMID:16221094 RGD:2311212 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:17138939 RGD:4890431 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule severity ISO protein:increased expression:plasma RGD PMID:18723424 RGD:2307207 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cdh13 cadherin 13 ISO protein:increased expression:aorta RGD PMID:11326751 RGD:2293555 NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased expression:artery, plaque, macrophage (human) RGD PMID:10073974 RGD:4892604 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:12600915 RGD:4891900 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO protein:increased expression:aorta RGD PMID:15242861 RGD:2298676 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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 chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:17903303 RGD:4892301 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:11941274 RGD:1581023 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F7 coagulation factor VII severity ISO protein:increased activity:plasma (human) RGD PMID:9569183 RGD:2312403 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Faslg Fas ligand ISO RGD PMID:14739407 RGD:1582424 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fbln5 fibulin 5 ISO RGD PMID:10428823 RGD:69830 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO RGD PMID:15756593 RGD:1582622 NCBI chr 1:142,185,092...142,198,167
Ensembl chr 1:142,185,094...142,197,182
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17420349 RGD:2306610 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15064094, PMID:20177342 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Hgf hepatocyte growth factor severity ISO protein:increased expression:serum: RGD PMID:9350587 RGD:8548601 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12958201 RGD:1598395 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin susceptibility ISO associated with Hypertension;DNA:polymorphism RGD PMID:8228210, PMID:17068284 RGD:1626352, RGD:1626340 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:17070529 RGD:1624204 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Icos inducible T-cell co-stimulator ISO RGD PMID:17060381 RGD:1624268 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO RGD PMID:20655098 RGD:6480271 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:blood RGD PMID:15625284 RGD:2313768 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood RGD PMID:15625284 RGD:2313768 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16523426, PMID:12765335 RGD:1598477, RGD:1598469 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18bp interleukin 18 binding protein ISO RGD PMID:11577031 RGD:4892618 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6st interleukin 6 signal transducer susceptibility ISO DNA:SNPs RGD PMID:17664290, PMID:17664290 RGD:1626686, RGD:1626686 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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 2:47,127,403...47,281,387
Ensembl chr 2:47,127,219...47,281,421
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:11978651 RGD:1582304 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga7 integrin subunit alpha 7 IEP Atherogenesis RGD PMID:14988073 RGD:1600025 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:12746502 RGD:5100478 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kdr kinase insert domain receptor IEP
ISO
RGD PMID:15665766, PMID:16873710 RGD:1581706, RGD:1581713 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lcat lecithin cholesterol acyltransferase susceptibility ISO RGD PMID:12673583, PMID:12673583 RGD:1581779, RGD:1581779 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11460888 RGD:1581846 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lipe lipase E, hormone sensitive type IDA
ISO
RGD PMID:10064727, PMID:10729384 RGD:1581868, RGD:1581867 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:15304490 RGD:1581874 NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
JBrowse link
G Lmna lamin A/C IEP protein:increased expression:aorta RGD PMID:16620292 RGD:2302364 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lox lysyl oxidase IDA RGD PMID:24127 RGD:1581899 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11809756 RGD:1581936 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb4r leukotriene B4 receptor ISO RGD PMID:16043658 RGD:1581956 NCBI chr15:34,449,299...34,453,352
Ensembl chr15:34,452,116...34,453,171
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO RGD PMID:15567863 RGD:1582314 NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:8200973 RGD:1582504 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:17435771 RGD:1641949 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15621056 RGD:1582525 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16221765 RGD:1582354 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp13 matrix metallopeptidase 13 susceptibility ISO RGD PMID:12392760, PMID:16230484 RGD:1582549, RGD:1582544 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP RGD PMID:12526080 RGD:1582580 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:12526080 RGD:1582580 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:15823277 RGD:1580550 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA
ISO
RGD PMID:16317521, PMID:15823277 RGD:1582628, RGD:1580550 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO RGD PMID:14664792, PMID:15567863, PMID:9069289 RGD:2306130, RGD:1582314, RGD:1582669 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 IEP protein:increased expression:aorta RGD PMID:16620292 RGD:2302364 NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:decreased expression:artery RGD PMID:17272673 RGD:2299058 NCBI chr10:81,648,216...81,653,717
Ensembl chr10:81,648,216...81,653,717
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:16627802 RGD:1642131 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:14736551 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:18802018 RGD:6480862 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:17218600 RGD:1642183 NCBI chr14:86,345,946...86,560,694
Ensembl chr14:86,345,953...86,560,694
JBrowse link
G Nppc natriuretic peptide C ISO RGD PMID:8989116 RGD:1642296 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
JBrowse link
G Npy neuropeptide Y ISO DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:19295309 RGD:6480535 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Pla2g15 phospholipase A2, group XV ISO RGD PMID:15781238 RGD:1582126 NCBI chr19:38,129,666...38,146,958
Ensembl chr19:38,129,584...38,146,956
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Metabolic Syndrome X RGD PMID:16627808 RGD:2313273 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:15967870 RGD:8553041 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prdx6 peroxiredoxin 6 ISO RGD PMID:15488866 RGD:1580711 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:16020747 RGD:1581284 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:aorta RGD PMID:18637019 RGD:2298774 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Senp1 SUMO specific peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 7:139,626,444...139,684,587
Ensembl chr 7:139,630,515...139,675,245
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 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:17431188 RGD:1625282 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Tbxa2r thromboxane A2 receptor TAS RGD PMID:11777901 RGD:619549 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tbxas1 thromboxane A synthase 1 IDA RGD PMID:11331452 RGD:1601459 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:aorta RGD PMID:16733295 RGD:1580959 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO protein:increased expression:aorta RGD PMID:16733295 RGD:1580959 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNP: :c.896A>G (human) RGD PMID:16890863 RGD:1624159 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO RGD PMID:17442899 RGD:1624181 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17000905 RGD:2312742 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vcan versican TAS RGD PMID:10397680 RGD:632588 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11138003 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Add1 adducin 1 ISO DNA:missense mutation:cds:p.G460W (human) RGD PMID:17082469 RGD:5147995 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic CTD PMID:18931039, PMID:12451000 RGD:8694473 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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, PMID:21906738, PMID:20835270, PMID:21418204 RGD:6784514, RGD:8695994, RGD:7245947, RGD:6767557, RGD:6784516, RGD:6784515 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228805 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akt1 AKT serine/threonine kinase 1 severity ISO RGD PMID:18054314 RGD:5509083 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:16303615, PMID:18206890 RGD:5509610 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:18287885, PMID:23078847 RGD:7241575, RGD:7241852 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: therapeutic CTD PMID:15822908 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoe apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:9169506, PMID:9409251, PMID:9649566, PMID:11095717, PMID:11231916, PMID:11947894, PMID:12871831, PMID:14594625, PMID:16020748, PMID:16303615, PMID:17438151, PMID:18093987, PMID:18269830, PMID:19124646, PMID:19682479, PMID:20093625, PMID:21043830, PMID:21512104, PMID:21908651, PMID:22005275, PMID:22022523, PMID:22228805, PMID:23148895, PMID:23639522, PMID:24017971, PMID:24096154, PMID:24330719, PMID:25020133, PMID:28483571, PMID:30376133, PMID:1411543, PMID:7593602 RGD:734968, RGD:7771549 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bcl3 BCL3, transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25374339 NCBI chr 1:80,730,758...80,745,273
Ensembl chr 1:80,730,499...80,744,831
JBrowse link
G Casp3 caspase 3 treatment IEP associated with type 2 diabetes mellitus RGD PMID:29213335 RGD:13792600 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cav1 caveolin 1 treatment IEP RGD PMID:23675421 RGD:8662275 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24370436 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24370436 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:16763157 RGD:8549763 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:24114205 RGD:7483610 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd36 CD36 molecule treatment ISO
IEP
RGD PMID:19264766, PMID:26003171, PMID:20037584 RGD:6893502, RGD:11041151, RGD:6893559 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Clu clusterin treatment IDA RGD PMID:15961700 RGD:9068390 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:15815632 NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO DNA:SNP: :rs72657934(human) RGD PMID:28642624 RGD:13450936 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:12213722 RGD:5687152 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsd cathepsin D ISO RGD PMID:12213722 RGD:5687152 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:12213722 RGD:5687152 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Ctss cathepsin S ISO RGD PMID:12213722 RGD:5687152 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:23887641 RGD:9479739 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:16806235 RGD:8661682 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 treatment ISO RGD PMID:26848160 RGD:11251766 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO RGD PMID:20224052 RGD:5688357 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Esr1 estrogen receptor 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:11894143, PMID:11160157 RGD:8553067 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21697723 RGD:5508792 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F11r F11 receptor ISO mRNA:increased expression:carotid artery RGD PMID:15681301 RGD:7488921 NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:20979870 RGD:7387315 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fas Fas cell surface death receptor treatment IEP associated with type 2 diabetes mellitus RGD PMID:29213335 RGD:13792600 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa onset ISO DNA:polymorphism: :p.H131R (human) RGD PMID:19490059 RGD:5147923 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:17053192 RGD:7240526 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Grn granulin precursor ISO protein:increased expression:smooth muscle cell, macrophage RGD PMID:19321167 RGD:5509781 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822795 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hmgb1 high mobility group box 1 treatment IEP RGD PMID:20519084 RGD:10402182 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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 chr15:28,486,605...28,517,353
Ensembl chr15:28,486,617...28,517,353
JBrowse link
G Hp haptoglobin treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16597321, PMID:23665315 RGD:11041860 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25020133 NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
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 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513158 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9169506 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11726660 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:21300351 RGD:9170237 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 treatment IEP
ISO
RGD PMID:23685195, PMID:16732281 RGD:8655997, RGD:14695532 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO associated with Renal Insufficiency, Chronic RGD PMID:21245127 RGD:7175328 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO associated with Diabetes Mellitus, Type 1 RGD PMID:21606463 RGD:5147904 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:17303776 RGD:8551768 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kl Klotho ISO RGD PMID:11027545 RGD:10403056 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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, PMID:9614153, PMID:22293196 RGD:5490255, RGD:12910105 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lta4h leukotriene A4 hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16698924 NCBI chr 7:34,288,333...34,320,243
Ensembl chr 7:34,288,365...34,320,235
JBrowse link
G Mir146a microRNA 146a severity ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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 chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 severity ISO miRNA:increased expression:peripheral blood mononuclear cell, plasma RGD PMID:31866771 RGD:21081515 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum,artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
RGD PMID:16317521, PMID:20370796 RGD:1582628, RGD:8657031 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28062492 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:coronary artery (human) RGD PMID:11689207 RGD:5508382 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:adventitia, vasa vasorum (human) RGD PMID:11689207 RGD:5508382 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:24324141 RGD:8158039 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18483620 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npy neuropeptide Y severity ISO RGD PMID:21468772 RGD:10448273 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:21468772 RGD:10448273 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:30996006 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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 chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:11413086 RGD:10449506 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 chr10:94,850,971...94,913,202 JBrowse link
G Pgf placental growth factor ISO RGD PMID:19952000 RGD:6483589 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma severity ISO RGD PMID:17483449 RGD:1642394 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:19237014 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12677255 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pltp phospholipid transfer protein ISO protein:increased expression:coronary artery (human) RGD PMID:12835223 RGD:1581039 NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
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, PMID:26241956, PMID:20182519, PMID:21427447, PMID:20660283, PMID:16043712 RGD:5509927, RGD:11552582, RGD:8547574, RGD:8547562 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
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 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO protein:decreased expression:mammary arteries (human) RGD PMID:14736553 RGD:5688075 NCBI chr 7:2,479,267...2,497,024
Ensembl chr 7:2,479,311...2,497,013
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Sell selectin L ISO RGD PMID:21760899 RGD:5685675 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P ISO
IEP
protein:increased expression:aorta RGD PMID:19834105, PMID:22340239 RGD:6478699, RGD:6480102 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12677255, PMID:20720404 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330073 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:17466307 RGD:8552973 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12124407 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20720404, PMID:15823270 RGD:7401235 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trim28 tripartite motif-containing 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351049 NCBI chr 1:65,544,369...65,551,043
Ensembl chr 1:65,544,373...65,551,043
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21908651 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
G Ucn2 urocortin 2 ISO protein:increased expression:coronary artery, endothelium (human) RGD PMID:16026900 RGD:5508308 NCBI chr 8:117,727,216...117,728,765
Ensembl chr 8:117,727,877...117,728,764
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12677255 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfc vascular endothelial growth factor C ISO associated with hypercholesterolemia;protein:increased expression:serum: RGD PMID:22206010 RGD:7483588 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
JBrowse link
G Vim vimentin ISO associated with arthritis,rheumatoid RGD PMID:21362765 RGD:6480618 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
bicuspid aortic valve disease 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: Bicuspid aortic valve ClinVar PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:18495510 NCBI chr MT:7,919...8,599
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 NCBI chr MT:7,758...7,961
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 chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:25741868, PMID:30311386, PMID:30455415 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455415 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
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, congenital
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by term: Congenital glaucoma
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:10227395, PMID:10426814, PMID:10655546, PMID:10739169, PMID:10910054, PMID:11403040, PMID:11527932, PMID:11558822, PMID:11774072, PMID:11854439, PMID:11980847, PMID:12036985, PMID:12372064, PMID:14507861, PMID:15037581, PMID:15255109, PMID:15342693, PMID:16384942, PMID:16688110, PMID:16735991, PMID:16735994, PMID:16862072, PMID:17164573, PMID:17363580, PMID:17563717, PMID:17591938, PMID:17718864, PMID:17893647, PMID:18227148, PMID:18414103, PMID:18470941, PMID:18537981, PMID:18622259, PMID:18852424, PMID:19234632, PMID:19247456, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:19793111, PMID:19807744, PMID:20151268, PMID:20198978, PMID:20664688, PMID:21081970, PMID:21168818, PMID:21600657, PMID:21815720, PMID:21850185, PMID:21854771, PMID:22004014, PMID:22128238, PMID:22942166, PMID:23028769, PMID:23218183, PMID:23218701, PMID:23922489, PMID:24033266, PMID:24281366, PMID:24940937, PMID:25091052, PMID:25109919, PMID:25527694, PMID:25646030, PMID:25741868, PMID:25950505, PMID:25978063, PMID:26550974, PMID:27060699, PMID:27243976, PMID:27272408, PMID:27408750, PMID:27508083, PMID:27535533, PMID:27777502, PMID:27820421, PMID:28192799, PMID:28384041, PMID:28448622, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386, PMID:32499604, PMID:32832252, PMID:32860008, PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Foxc1 forkhead box C1 ISS
ISO
OMIM:231300
ClinVar Annotator: match by term: Congenital glaucoma
MouseDO
ClinVar
PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar PMID:19656777, PMID:24033266 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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, PMID:17563717, PMID:22194650, PMID:22736945 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777
JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:9388399, PMID:10854111, PMID:11102981, PMID:11755616, PMID:12721871, PMID:15229130, PMID:15364702, PMID:16009764, PMID:16730748, PMID:20935329, PMID:25741868, PMID:26467025, PMID:26856460, PMID:28479817, PMID:29188607, PMID:29980472, PMID:30311386, PMID:30402942 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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, PMID:10712431, PMID:10716263, PMID:10854111, PMID:10969905, PMID:11102981, PMID:11486103, PMID:11559313, PMID:11706120, PMID:11715067, PMID:11755616, PMID:11757773, PMID:11771160, PMID:11784372, PMID:12136071, PMID:12146805, PMID:12196662, PMID:12482954, PMID:12721871, PMID:12754354, PMID:12810003, PMID:12821756, PMID:12821764, PMID:14714274, PMID:15229130, PMID:15287509, PMID:15350543, PMID:15364702, PMID:15378071, PMID:15694192, PMID:15776792, PMID:15834039, PMID:15857853, PMID:15981641, PMID:15995828, PMID:16009764, PMID:16580020, PMID:16717210, PMID:16730748, PMID:16864835, PMID:17122431, PMID:17323840, PMID:17390743, PMID:17879447, PMID:18765654, PMID:18948701, PMID:19006080, PMID:19043263, PMID:19174371, PMID:19180562, PMID:19242647, PMID:19245392, PMID:19252787, PMID:19259619, PMID:19293235, PMID:19359623, PMID:19417009, PMID:19528524, PMID:19542611, PMID:19576955, PMID:19825845, PMID:20038773, PMID:20071773, PMID:20167921, PMID:20301673, PMID:20851625, PMID:20857162, PMID:20935329, PMID:20981092, PMID:21387384, PMID:21555590, PMID:21616505, PMID:21737310, PMID:21852154, PMID:21940951, PMID:22006983, PMID:22019870, PMID:22082899, PMID:22153900, PMID:22159056, PMID:22218279, PMID:22367839, PMID:22373597, PMID:22623959, PMID:22664156, PMID:22795385, PMID:22878905, PMID:22936449, PMID:23025651, PMID:23412372, PMID:23584202, PMID:23602593, PMID:23639391, PMID:23649698, PMID:23844775, PMID:23847153, PMID:24033266, PMID:24086431, PMID:24139282, PMID:24344756, PMID:24425116, PMID:24886907, PMID:24929957, PMID:24936512, PMID:25260786, PMID:25326637, PMID:25344745, PMID:25412914, PMID:25604251, PMID:25623805, PMID:25741868, PMID:25801821, PMID:25819272, PMID:25834748, PMID:25870235, PMID:25929831, PMID:25973016, PMID:25980907, PMID:26002683, PMID:26261665, PMID:26270344, PMID:26308724, PMID:26368811, PMID:26467025, PMID:26646783, PMID:26715087, PMID:26806700, PMID:26850715, PMID:26856460, PMID:26889213, PMID:26894465, PMID:27174004, PMID:27293347, PMID:27350778, PMID:27423596, PMID:27770446, PMID:27844030, PMID:27881154, PMID:27884173, PMID:27890607, PMID:28334938, PMID:28479817, PMID:28492532, PMID:28601945, PMID:28710804, PMID:28991717, PMID:29188607, PMID:29449082, PMID:29980472, PMID:30311053, PMID:30311386, PMID:30402942, PMID:30956055, PMID:31028544, PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Pdgfd platelet derived growth factor D ISO RGD PMID:19213942 RGD:9854642 NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
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 chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:1430592 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062213 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
CTD Direct Evidence: marker/mechanism
CTD PMID:12911327, PMID:17220293 RGD:1601136 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660, PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G B2m beta-2 microglobulin disease_progression ISO RGD PMID:21546482 RGD:6482703 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 7:3,320,250...3,335,583
Ensembl chr 7:3,320,103...3,335,582
JBrowse link
G Ctss cathepsin S ISO RGD PMID:9691094 RGD:5687151 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgb fibrinogen beta chain ISO RGD PMID:9514419 RGD:1580383 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Gnb3 G protein subunit beta 3 ISO RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hfe homeostatic iron regulator no_association ISO RGD PMID:16886838 RGD:1582684 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum RGD PMID:16579988 RGD:1581882 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO mRNA, protein:decreased expression:carotid artery RGD PMID:16620836 RGD:1624254 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16181175 RGD:1598446 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16801669 RGD:1598484 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb4r leukotriene B4 receptor IDA RGD PMID:16293697 RGD:1581954 NCBI chr15:34,449,299...34,453,352
Ensembl chr15:34,452,116...34,453,171
JBrowse link
G Lum lumican ISO RGD PMID:15970583 RGD:1582117 NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO RGD PMID:15073384 RGD:1582361 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16339461 RGD:1582626 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19198612 NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO mRNA:increased expression:carotid artery RGD PMID:17283255 RGD:1642340 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Pappa1 pappalysin 1 ISO associated with Hyperlipidemia;protein:increased expression:serum RGD PMID:12524241 RGD:1642330 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Pgf placental growth factor severity ISO RGD PMID:17157858 RGD:6483596 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22499993 RGD:6482769 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10512912 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO RGD PMID:15284449 RGD:1580688 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prl prolactin susceptibility ISO protein:decreased expression:serum RGD PMID:17626900 RGD:1642555 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Selplg selectin P ligand ISO DNA:polymorphism: :p.M62I (human) RGD PMID:22307784 RGD:6218985 NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12732398 RGD:1580838 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:12801623 RGD:1581414 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:17119348 RGD:1601556 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:15258789 RGD:1580737 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16973168 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:15604415 RGD:1580793 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19717975 RGD:2312760 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vwf von Willebrand factor ISO associated with Kidney Failure, Chronic RGD PMID:20439183 RGD:7207026 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Xdh xanthine dehydrogenase ISO associated with Hypertension;DNA:SNP:intron:69901A>C (human) RGD PMID:18712049 RGD:7247654 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IEP mRNA:increased expression:artery: RGD PMID:9918604 RGD:10047106 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP RGD PMID:16118253 RGD:5509614 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Cbl Cbl proto-oncogene IEP protein:hyperphosphorylation:tyrosine: RGD PMID:18663086 RGD:11038825 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:arterial wall (rat) RGD PMID:19570811 RGD:2314490 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccna2 cyclin A2 IEP mRNA:increased expression:artery: RGD PMID:18667424 RGD:10054494 NCBI chr 2:123,274,727...123,282,266
Ensembl chr 2:123,275,881...123,282,214
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator disease_progression IEP RGD PMID:10623660 RGD:11341688 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Csf3 colony stimulating factor 3 IEP protein:increased expression:smooth muscle cell: RGD PMID:15385271 RGD:11039423 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:9546380 RGD:7771579 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Foxo3 forkhead box O3 IEP RGD PMID:15662024 RGD:10402197 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Gc GC, vitamin D binding protein IEP protein:decreased expression:plasma RGD PMID:21416056 RGD:5509868 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Hdac4 histone deacetylase 4 IEP protein:increased expression:carotid artery: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like IEP RGD PMID:11971902 RGD:625426 NCBI chr 5:140,923,914...140,940,905
Ensembl chr 5:140,923,914...140,940,905
JBrowse link
G Hp haptoglobin IEP RGD PMID:19012726 RGD:11041814 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:20368503 RGD:4145429 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum,carotid artery: RGD PMID:12490968 RGD:10046051 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IEP protein:increased phosphorylation:carotid artery: RGD PMID:17606126 RGD:10046006 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il18 interleukin 18 IMP
IEP
protein:increased expression:carotid artery RGD PMID:16864728, PMID:19955748 RGD:4889500, RGD:4889159 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO human gene in rat model RGD PMID:12754378 RGD:2316108 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itgb3 integrin subunit beta 3 IEP protein:increased expression:carotid artery RGD PMID:17868879 RGD:4892652 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Jag1 jagged canonical Notch ligand 1 IEP protein:increased expression:carotid artery RGD PMID:21330605 RGD:6482230 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased activity:carotid artery: RGD PMID:14638553 RGD:10412321 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:carotid artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:9327785 RGD:8547910 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:carotid artery: RGD PMID:11003588 RGD:11533926 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29207649 RGD:13504723 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch1 notch receptor 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch2 notch receptor 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Notch3 notch receptor 3 IEP RGD PMID:11971902 RGD:625426 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 IEP protein:increased expression:blood vessel: RGD PMID:15044192 RGD:10413907 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IEP mRNA,protein:increased expression:artery: RGD PMID:12649739 RGD:11556213 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pdgfd platelet derived growth factor D IEP protein:increased expression:carotid artery: RGD PMID:18258854 RGD:9854624 NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
JBrowse link
G Plat plasminogen activator, tissue type IEP mRNA, protein:increased expression, increased activity:carotid artery (rat) RGD PMID:8343497 RGD:11537479 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:artery: RGD PMID:15514205 RGD:10040973 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO mouse gene in a rat model RGD PMID:19339015 RGD:8553019 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rangap1 RAN GTPase activating protein 1 IEP protein:increased expression:carotid artery, intima (rat) RGD PMID:24988324 RGD:9835414 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IDA RGD PMID:11107082 RGD:5144055 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:25617690 RGD:11075082 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:17525281 RGD:8618841 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sp1 Sp1 transcription factor IEP protein:increased phosphorylation:smooth muscle cell: RGD PMID:18258854 RGD:9854624 NCBI chr 7:144,014,173...144,044,635
Ensembl chr 7:144,014,173...144,044,629
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 IEP mRNA,protein:increased expression:carotid artery: RGD PMID:20537494 RGD:11060271 NCBI chr 4:28,947,951...28,953,261
Ensembl chr 4:28,947,965...28,953,067
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD