arteriosclerosis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	arteriosclerosis	go back to main search page
Accession:	DOID:2349	browse the term
Definition:	An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. (DO)
Synonyms:	exact_synonym:	arterioscleroses; arteriosclerotic vascular disease
	primary_id:	MESH:D001161
	xref:	EFO:0009086; NCI:C34398
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (822) Mouse (782) Human (10939) Chinchilla (694) Bonobo (743) Dog (751) Squirrel (715) Pig (744) Green Monkey (734) Naked Mole-rat (688) All
Genes (784) QTL (27) Strains (11)

arteriosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

susceptibility

RGD

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

susceptibility

RGD

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

acetyl-CoA acetyltransferase 1

mRNA:increased expression:atherosclerotic lesions (human)

RGD

NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855

G

acetyl-CoA acetyltransferase 2

RGD

NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821

G

allograft inflammatory factor 1

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

aldo-keto reductase family 1 member B1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

G

aldehyde dehydrogenase 3 family, member A1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte

RGD

NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681

G

arachidonate 5-lipoxygenase

RGD
GAD

PMID:14702425 PMID:15118671

RGD:734559, RGD:1331525

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

arachidonate 5-lipoxygenase activating protein

mRNA:increased expression:atherosclerotic lesions (human)
mRNA:increased expression:aorta, adipose tissue (mouse)

RGD

PMID:18258817 PMID:17379835

RGD:2313905, RGD:2313913

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

alkaline phosphatase, biomineralization associated

protein:decrease expression:serum

RGD

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

apolipoprotein A1

treatment

associated with Kidney Failure, Chronic

GAD
RGD

PMID:15118671 PMID:20639628

RGD:1331525, RGD:5508221

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

associated with Obesity

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

PMID:17118406 PMID:18287887

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein H

protein:increased expression:serum

RGD

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

ATM serine/threonine kinase

susceptibility

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

beta-2 microglobulin

associated with Kidney Diseases

RGD

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

C-C motif chemokine ligand 2

associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

protein:increased secretion:serum (mouse)
protein:increased expression:plasma

RGD

PMID:19752857 PMID:16259780 PMID:14656931

RGD:4891452, RGD:2307165, RGD:4890030

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine receptor 5

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD36 molecule

severity

protein:increased expression:plasma

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

cadherin 13

protein:increased expression:aorta

RGD

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

G

chitinase 3 like 1

protein:increased expression:artery, plaque, macrophage (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

dual specificity phosphatase 1

protein:increased expression:aorta

RGD

NCBI chr10:16,680,478...16,683,275

G

early growth response 1

mRNA, protein:increased expression:carotid artery, plaque (human)
protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse)

RGD

PMID:10712437 PMID:21099169 PMID:14670837

RGD:5131645, RGD:5131874, RGD:5131652

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

estrogen receptor 1

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

coagulation factor XIII A1 chain

RGD

NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700

G

coagulation factor VII

severity

protein:increased activity:plasma (human)

RGD

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibulin 5

RGD

NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755

G

furin (paired basic amino acid cleaving enzyme)

RGD

NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

glutathione peroxidase 1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase alpha 4

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15064094 PMID:20177342

NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182

G

hepatocyte growth factor

severity

protein:increased expression:serum:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

haptoglobin

susceptibility

associated with Hypertension;DNA:polymorphism

RGD

PMID:8228210 PMID:17068284

RGD:1626352, RGD:1626340

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

heparan sulfate-glucosamine 3-sulfotransferase 1

ClinVar Annotator: match by term: Arteriosclerosis

PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 More...

NCBI chr14:71,185,826...71,223,263
Ensembl chr14:71,185,682...71,223,248

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

inducible T-cell co-stimulator

RGD

NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672

G

interferon gamma receptor 1

RGD

NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785

G

insulin-like growth factor 1

protein:increased expression:blood

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

protein:increased expression:blood

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

interleukin 10

susceptibility

RGD

PMID:16523426 PMID:12765335

RGD:1598477, RGD:1598469

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 15

mRNA:increased expression:macrophage, aorta
mRNA:increased expression:carotid

RGD

PMID:11485899 PMID:11485899

RGD:1626612, RGD:1626612

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 18 binding protein

RGD

NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963

G

interleukin 1 beta

susceptibility

DNA:SNP:promoter
associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte
associated with Chlamydia Infections

RGD

PMID:17213232 PMID:17189873 PMID:17132885

RGD:1626624, RGD:1626627, RGD:1626629

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6 cytokine family signal transducer

susceptibility

DNA:SNPs

RGD

PMID:17664290 PMID:17664290

RGD:1626686, RGD:1626686

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

G

integrin subunit alpha 1

atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice (mouse)

RGD

NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238

G

integrin subunit alpha 2

susceptibility

RGD

NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha 7

Atherogenesis

RGD

NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450

G

integrin subunit beta 3

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

kinase insert domain receptor

RGD

PMID:15665766 PMID:16873710

RGD:1581706, RGD:1581713

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

Klotho

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9363890 PMID:9363890

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

lecithin cholesterol acyltransferase

susceptibility

PMID:12673583 PMID:12673583

RGD:1581779, RGD:1581779

NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231

G

low density lipoprotein receptor

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

leptin receptor

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipase E, hormone sensitive type

RGD

PMID:10064727 PMID:10729384

RGD:1581868, RGD:1581867

NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310

G

lipase G, endothelial type

RGD

NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260

G

lamin A/C

protein:increased expression:aorta

RGD

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

lysyl oxidase

RGD

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

LDL receptor related protein 1

susceptibility

associated with Hypercholesterolemia

RGD

PMID:17303763 PMID:14739216

RGD:1625012, RGD:1581910

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

G

lymphotoxin alpha

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

leukotriene B4 receptor

RGD

NCBI chr15:29,263,199...29,265,716

G

mitogen activated protein kinase kinase kinase 7

ameliorates

RGD

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

G

mitogen-activated protein kinase 9

RGD

NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:femoral artery, atherosclerotic lesions (human)

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

matrix Gla protein

RGD

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

macrophage migration inhibitory factor

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 12

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 13

susceptibility

RGD

PMID:12392760 PMID:16230484

RGD:1582549, RGD:1582544

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 14

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

RGD

PMID:16317521 PMID:15823277

RGD:1582628, RGD:1580550

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

macrophage scavenger receptor 1

RGD

PMID:14664792 PMID:15567863 PMID:9069289

RGD:2306130, RGD:1582314, RGD:1582669

NCBI chr16:52,717,775...52,803,602
Ensembl chr16:52,717,732...52,799,676

G

NADH:ubiquinone oxidoreductase subunit S6, pseudogene 1

protein:increased expression:aorta

RGD

NCBI chr 2:27,201,706...27,202,241
Ensembl chr 2:27,201,713...27,202,258

G

NFKB inhibitor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

NME/NM23 nucleoside diphosphate kinase 2

protein:decreased expression:artery

RGD

NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538

G

nitric oxide synthase 1

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

notch receptor 4

RGD

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

NPC1 like intracellular cholesterol transporter 1

RGD

NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113

G

natriuretic peptide C

RGD

NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251

G

neuropeptide Y

DNA:missense mutation:cds:p.L7P (human)

RGD

NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495

G

purinergic receptor P2Y12

RGD

NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361

G

pappalysin

protein:increased expression:serum
mRNA:increased expression:aorta

RGD

PMID:16614002 PMID:17510462

RGD:1642326, RGD:1642325

NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666

G

phospholipase A2, group XV

RGD

NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063

G

paraoxonase 1

associated with Metabolic Syndrome X

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator-activated receptor gamma

treatment

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

peroxiredoxin 6

RGD

NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355

G

prostaglandin D2 synthase

susceptibility

RGD

NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833

G

prostaglandin E receptor 4

RGD

NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670

G

prostaglandin-endoperoxide synthase 2

severity
resistance

PMID:17643885 PMID:17643885 PMID:16458279

RGD:1642592, RGD:1642592, RGD:1581287

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:aorta

RGD

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

SUMO specific peptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598

G

serpin family A member 1

disease_progression

DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12692006 PMID:12692006

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

sterol O-acyltransferase 2

susceptibility

RGD

NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915

G

thromboxane A synthase 1

RGD

NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

G

transforming growth factor, beta 1

protein:increased expression:aorta

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta receptor 2

protein:increased expression:aorta

RGD

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

toll-like receptor 4

susceptibility

DNA:SNP: :c.896A>G (human)

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

TNF receptor superfamily member 14

protein:increased expression:carotid artery, atherosclerotic lesions (human)

RGD

NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703

G

TNF receptor superfamily member 1A

susceptibility

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF superfamily member 10

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

versican

RGD

NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637

G

very low density lipoprotein receptor

RGD

NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920

acute myocardial infarction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 17

ameliorates

RGD

NCBI chr 1:177,807,579...177,897,027
Ensembl chr 1:177,807,583...177,896,854

G

BCL2 associated X, apoptosis regulator

ameliorates

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

calcium voltage-gated channel auxiliary subunit gamma 4

mRNA:decreased expression:blood:

RGD

NCBI chr10:92,683,778...92,745,842
Ensembl chr10:92,683,761...92,746,126

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 7

treatment

RGD

NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729

G

cellular communication network factor 1

ameliorates

RGD

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

DNA-damage regulated autophagy modulator 1

ameliorates

mRNA,protein:decreased expression:heart

RGD

PMID:30144448 PMID:30144448

RGD:407571674, RGD:407571674

NCBI chr 7:22,742,794...22,776,888
Ensembl chr 7:22,742,849...22,776,765

G

desmocollin 2

ameliorates

RGD

NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:blood

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

GATA binding protein 5

susceptibility

DNA:SNPs:promoter:rs80197101, rs77067995 (human)

RGD

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

glycoprotein VI

ameliorates
sexual_dimorphism

DNA:missense mutation:CDS:p.S219P (rs1613662) (human)
DNA:missense mutation:intron 1, intron 5: (rs1671207, rs11084382) (human)

RGD

PMID:20227257 PMID:20227257

RGD:401794138, RGD:401794138

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

glutathione peroxidase 3

protein:increased expression:plasma

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glycogen synthase kinase 3 beta

treatment
ameliorates

RGD

PMID:26591365 PMID:32068187

RGD:13792778, RGD:267358468

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

H19 imprinted maternally expressed transcript

ameliorates

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Acute myocardial infarction

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interferon gamma

ameliorates

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ameliorates

RGD

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

ameliorates

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

ameliorates

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

ameliorates

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor-like 1

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 33

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

interleukin 4

ameliorates

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

ameliorates

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha M

treatment

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

kinesin family member 6

DNA:SNP: :p.W719R (rs20455) (human)

RGD

NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006

G

microtubule-associated protein 1 light chain 3 alpha

treatment

RGD

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

G

microRNA 126a

disease_progression

RGD

PMID:36523365 PMID:32595526

RGD:401851047, RGD:401851053

NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180

G

microRNA 146a

miRNA:increased expression:peripheral blood mononuclear cell, plasma

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 155

miRNA:decreased expression:peripheral blood mononuclear cell, plasma

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 17

treatment

RGD

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 21

miRNA:increased expression:peripheral blood mononuclear cell, plasma
RNA:decreased expression:serum

RGD

PMID:31866771 PMID:32595526

RGD:21081515, RGD:401851053

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 223

treatment

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 320a

RGD

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

mitochondrially encoded cytochrome c oxidase II

ameliorates

RGD

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

NADH:ubiquinone oxidoreductase subunit B5

ameliorates

associated with obesity

RGD

NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589

G

platelet factor 4

treatment

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

phospholipase C, gamma 1

ameliorates

RGD

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

pro-platelet basic protein

treatment

RGD

NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130

G

phosphatase and tensin homolog

ameliorates

mRNA:decreased expression:heart left ventricle (rat)
RNA:increased expression:serum

RGD

PMID:26973267 PMID:32595526 PMID:29990866

RGD:11526378, RGD:401851053, RGD:155882565

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

ras homolog family member A

ameliorates

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

Ras-like without CAAX 2

ameliorates

RGD

NCBI chr18:22,565,403...22,921,648
Ensembl chr18:22,565,404...22,921,648

G

succinate dehydrogenase complex iron sulfur subunit B

ameliorates

associated with obesity

RGD

NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

G

serpin family G member 1

mRNA:increased expression:heart

RGD

PMID:26476955 PMID:26476955

RGD:11552746, RGD:11552746

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

sequestosome 1

treatment

RGD

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

G

T-box transcription factor 1

treatment

RGD

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

tumor necrosis factor

ameliorates

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

zinc finger E-box binding homeobox 1

ameliorates

RGD

NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214

anterolateral myocardial infarction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

protein:increased expression:aortic root, coronary sinus, plasma (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

serpin family E member 1

disease_progression

protein:decreased expression, decreased activity:heart:

RGD

PMID:12615902 PMID:12615902

RGD:13208541, RGD:13208541

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

aortic atherosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

mRNA,protein:decreased expression:aorta

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

calpain 1

protein:increased activity:aorta

RGD

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

endothelin 1

exacerbates

associated with type 1 diabetes mellitus;

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

interleukin 33

protein:increased expression:artery:

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

low density lipoprotein receptor

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli

RGD

G

microRNA 223

RNA:increased expression:serum,aorta

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

myocardin

exacerbates

protein:decreased expression:aorta

RGD

PMID:33035679 PMID:33035679

RGD:401793744, RGD:401793744

NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627

G

NADPH oxidase 1

ameliorates

associated with type 1 diabetes mellitus;

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

pro-platelet basic protein

protein:increased expression:thrombus,artery

RGD

NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130

G

sterol O-acyltransferase 1

ameliorates

associated with Hypercholesterolemia

RGD

NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494

arteriolosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

associated with Renal Insufficiency, Chronic; protein:increased expression:serum:

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

arteriosclerosis obliterans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H19 imprinted maternally expressed transcript

RNA:increased expression:blood serum (human)

RGD

PMID:31173326 PMID:31173326

RGD:155888487, RGD:155888487

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

thrombopoietin

RGD

Ensembl chr11:80,182,820...80,188,167

atherosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22022523 PMID:29593532

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

ATP binding cassette subfamily G member 1

treatment

RGD

NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948

G

ATP binding cassette subfamily G member 5

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11138003 PMID:29593532

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

treatment

RGD

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

acetyl-CoA carboxylase alpha

treatment

RGD

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

adducin 1

DNA:missense mutation:cds:p.G460W (human)

RGD

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

G

adiponectin, C1Q and collagen domain containing

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:18931039 PMID:12451000

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

treatment

CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human)

CTD
RGD

PMID:19939336 PMID:20372816 PMID:22552116 PMID:23936343 PMID:22038096 More...

RGD:6784514, RGD:8695994, RGD:7245947, RGD:6767557, RGD:6784516, RGD:6784515

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

treatment

associated with Hypertension
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21925196 PMID:22539767 PMID:22977667

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

AKT serine/threonine kinase 1

severity

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 15-lipoxygenase

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:16303615 PMID:18206890

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

apolipoprotein A1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:33861588 PMID:18287885 PMID:23078847

RGD:7241575, RGD:7241852

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A4

CTD Direct Evidence: therapeutic

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

apolipoprotein E

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9169506 PMID:9409251 PMID:9649566 PMID:11095717 PMID:11231916 More...

RGD:734968, RGD:150521536, RGD:7771549

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

BCL2, apoptosis regulator

associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

BCL3, transcription coactivator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607

G

cardiac mesoderm enhancer-associated non-coding RNA

disease_progression

RNA:decreased expression:carotid artery

RGD

PMID:34289702 PMID:34289702

RGD:155882579, RGD:155882579

NCBI chr18:55,097,848...55,118,769
Ensembl chr18:55,095,230...55,118,825

G

caspase 3

treatment

associated with type 2 diabetes mellitus

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

calcium-sensing receptor

protein:decreased expression:tibial artery (human)
protein:increased expression:myocardium (rat)

RGD

PMID:18852253 PMID:22527939

RGD:7205454, RGD:7205672

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

caveolin 1

treatment

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 2

treatment
severity

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:aorta (mouse)

CTD
RGD

PMID:12677255 PMID:12928151 PMID:20720404 PMID:11486244 PMID:23650230 More...

RGD:8548896, RGD:401842363, RGD:7401235

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

ameliorates

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cellular communication network factor 1

ameliorates

ApoE knockout mouse

RGD

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cyclin D1

associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

C-C motif chemokine receptor 5

treatment

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 6

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

CD36 molecule

treatment

RGD

PMID:19264766 PMID:26003171 PMID:20037584

RGD:6893502, RGD:11041151, RGD:6893559

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

treatment

associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta
associated with Hypercholesterolemia

RGD

PMID:20505314 PMID:23984971 PMID:23984971 PMID:16317521

RGD:5490534, RGD:8547801, RGD:8547801, RGD:1582628

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

associated with Hypercholesterolemia
protein:increased expression:plasma

RGD

PMID:20705757 PMID:26261622 PMID:23984971 PMID:16317521 PMID:21817131

RGD:5490529, RGD:11344965, RGD:8547801, RGD:1582628, RGD:7248421

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

chymotrypsin like elastase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

G

clusterin

treatment

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

cannabinoid receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548

G

collagen type IV alpha 2 chain

susceptibility

DNA:SNP: :rs72657934(human)

RGD

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

G

carboxypeptidase E

mRNA:decreased expression:carotid plaque (human)

RGD

NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233

G

carnitine palmitoyltransferase 1A

treatment

RGD

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

C-reactive protein

disease_progression

protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16931792 PMID:18535598

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

protein:increased expression:plasma (mouse)
associated with Kidney Failure, Chronic

RGD

PMID:9637704 PMID:16166801

RGD:734837, RGD:7257575

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

catenin beta 1

ameliorates

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin B

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin D

RGD

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

cathepsin L

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

cathepsin S

RGD

NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

cytochrome b-245 alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

cytochrome P450, family 27, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

PMID:11166758 PMID:19801147

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

DAB2 interacting protein

protein:alternative forms:coronary artery (human)

RGD

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

delta like canonical Notch ligand 4

ameliorates
treatment

RGD

PMID:22699504 PMID:30909142

RGD:155641244, RGD:155663380

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

dual specificity phosphatase 5

ameliorates

ApoE knockout mice

RGD

NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818

G

endothelin 1

treatment

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

egl-9 family hypoxia-inducible factor 1

treatment

RGD

NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777

G

ELOVL fatty acid elongase 5

treatment

RGD

NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284

G

epoxide hydrolase 2

RGD

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

G

estrogen receptor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11894143 PMID:11160157

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

F11 receptor

mRNA:increased expression:carotid artery

RGD

NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402

G

coagulation factor II, thrombin

treatment

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fas cell surface death receptor

treatment

associated with type 2 diabetes mellitus

RGD

PMID:29213335 PMID:29593532

RGD:13792600, RGD:401827839

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

onset

DNA:polymorphism: :p.H131R (human)

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

RGD

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

fibroblast growth factor 21

associated with Diabetes Mellitus, Type 2;protein:increased expression:serum:

RGD

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

fibroblast growth factor receptor 2

treatment

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

FTO, alpha-ketoglutarate dependent dioxygenase

sexual_dimorphism

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glutathione peroxidase 3

treatment

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

granulin precursor

protein:increased expression:smooth muscle cell, macrophage

RGD

NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775

G

glutathione S-transferase mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

H19 imprinted maternally expressed transcript

ameliorates

RNA:increased expression:blood serum (human)
ApoE knockout mice
ApoE��/�� mice
RNA:increased expression:blood plasm (human)

RGD

PMID:28165553 PMID:30529164 PMID:31757932 PMID:32945413 PMID:35854140 More...

RGD:156430317, RGD:243048424, RGD:242905202, RGD:242905200, RGD:242905195, RGD:158013772, RGD:156430336

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

3-hydroxyanthranilate 3,4-dioxygenase

treatment

Ldlr knockout mouse

RGD

NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877

G

histone deacetylase 4

ameliorates

RGD

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

histone deacetylase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333

G

hes-related family bHLH transcription factor with YRPW motif 1

treatment

RGD

NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312

G

high mobility group box 1

treatment

RGD

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:internal carotid artery, smooth muscle cell (human)

RGD

NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183

G

haptoglobin

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16597321 PMID:23665315

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

histamine receptor H 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455

G

heat shock protein family A (Hsp70) member 1A

DNA:SNP:promoter:-110A>C(rs1008438) (human)

RGD

PMID:20490736 PMID:22328194

RGD:5147595, RGD:7257649

NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

treatment

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

treatment

RGD

PMID:23685195 PMID:16732281

RGD:8655997, RGD:14695532

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

ameliorates

associated with Renal Insufficiency, Chronic

RGD

PMID:21245127 PMID:35854140

RGD:7175328, RGD:242905195

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 2

associated with Diabetes Mellitus, Type 1

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 27

ameliorates

RGD

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

G

interleukin 6

treatment
ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19330073 PMID:29593532 PMID:35854140

RGD:401827839, RGD:242905195

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha M

ameliorates

associated with Hypercholesterolemia;DNA:missense mutation:CDS:p.I332G (mouse)
mRNA:increased expression:peripheral blood mononuclear cell (human)
protein:increased expression:descending aorta (mouse)

RGD

PMID:32938725 PMID:24716741 PMID:30913515

RGD:329853755, RGD:329901833, RGD:329901661

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

Janus kinase 2

associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

potassium calcium-activated channel subfamily N member 4

ameliorates

ApoE knockout mouse

RGD

NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340

G

kinase insert domain receptor

treatment

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KH RNA binding domain containing, signal transduction associated 1

ameliorates

ApoE knockout mice

RGD

NCBI chr 5:142,051,844...142,089,175
Ensembl chr 5:142,063,570...142,089,180

G

Klotho

RGD

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

low density lipoprotein receptor

CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutation:exon:478T > A(rat)

CTD
RGD

PMID:11947894 PMID:18450471 PMID:22153697 PMID:25619500 PMID:28899902 More...

RGD:5490255, RGD:12910105

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926

G

leukotriene A4 hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600

G

microRNA 126b

exacerbates

RGD

NCBI chr 3:9,415,087...9,415,159

G

microRNA 140

mRNA:increased expression:blood vessel (mouse)
miRNA:increased expression:artery (human)
miRNA:increased expression:peripheral monocytes (human)

RGD

PMID:30483753 PMID:33495827 PMID:32965005

RGD:329337368, RGD:329347823, RGD:329337370

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

microRNA 145

ameliorates

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 146a

severity

miRNA:increased expression:peripheral blood mononuclear cell, plasma

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 155

treatment
severity

associated with Bacteremia
miRNA:decreased expression:peripheral blood mononuclear cell, plasma

RGD

PMID:28970282 PMID:28646427 PMID:31866771 PMID:27856635

RGD:21079445, RGD:24922209, RGD:21081515, RGD:21079446

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 17

treatment

RGD

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 20a

ameliorates

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

microRNA 21

severity

miRNA:increased expression:peripheral blood mononuclear cell, plasma

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 223

RNA:increased expression:serum,artery

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

matrix metallopeptidase 1

susceptibility

human gene in mouse model
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21742783 PMID:11375412

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

ameliorates
treatment

RGD

PMID:16317521 PMID:31757932 PMID:20370796

RGD:1582628, RGD:242905202, RGD:8657031

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819

G

mitochondrial ribosomal protein L45

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474

G

methylenetetrahydrofolate reductase

severity

associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

ameliorates

ApoE knockout mice

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

MYC proto-oncogene, bHLH transcription factor

treatment

RGD

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

myosin regulatory light chain interacting protein

treatment

RGD

NCBI chr17:19,286,649...19,308,295
Ensembl chr17:19,286,650...19,308,295

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360

G

nerve growth factor

protein:decreased expression:coronary artery (human)

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

protein:increased expression:adventitia, vasa vasorum (human)

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

nicotinamide N-methyltransferase

disease_progression

protein:increased activity:liver (mouse)

RGD

NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655

G

nucleotide-binding oligomerization domain containing 2

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

non-POU domain containing, octamer-binding

severity

mRNA, protein:increased expression:coronary artery (human)

RGD

PMID:29673854 PMID:33626912

RGD:155882449, RGD:155900763

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

susceptibility

DNA:snp:exon:c.894G>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:12677255 PMID:20720404 PMID:21114134 PMID:12163452

RGD:7771564, RGD:7771607

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

notch receptor 1

treatment

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: therapeutic

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

natriuretic peptide B

susceptibility

associated with Renal Insufficiency, chronic;protein:increased expression:blood:
associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human)

RGD

PMID:22863432 PMID:19413180

RGD:7247628, RGD:7248594

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

neuropeptide Y

severity

RGD

NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495

G

neuropeptide Y receptor Y1

RGD

NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759

G

neuropeptide Y receptor Y2

RGD

NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024

G

neuropeptide Y receptor Y5

RGD

NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382

G

nuclear receptor subfamily 1, group H, member 2

treatment

RGD

PMID:29593532 PMID:33011372

RGD:401827839, RGD:401842381

NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377

G

nuclear receptor subfamily 1, group H, member 3

treatment

mRNA:increased expression:carotid artery segment (human)

RGD

PMID:29593532 PMID:33011372 PMID:15528463

RGD:401827839, RGD:401842381, RGD:401827901

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor subfamily 1, group H, member 4

CTD Direct Evidence: therapeutic

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18093987 PMID:19124646 PMID:18093987

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet derived growth factor D

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395

G

platelet derived growth factor receptor beta

treatment

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

platelet and endothelial cell adhesion molecule 1

severity
resistance

protein:increased expression:carotid artery (human)

RGD

PMID:22053073 PMID:21960570 PMID:17659202

RGD:6771176, RGD:6771359, RGD:6771223

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

platelet factor 4

ameliorates

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

placental growth factor

RGD

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

phosphatase and actin regulator 1

exacerbates

mRNA:increased expression:carotid artery (human)

RGD

NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

severity

RGD

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

phospholipase A2 group IIA

CTD Direct Evidence: marker/mechanism

NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014

G

phospholipase A2 group VII

associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human)

RGD

PMID:21970837 PMID:12590019

RGD:6482784, RGD:7248796

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, tissue type

CTD Direct Evidence: therapeutic

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

plasminogen activator, urokinase

associated with Kidney Failure, Chronic; protein:increased expression:plasma (human)

RGD

PMID:17706748 PMID:15096455

RGD:7241201, RGD:7241203

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

phospholipid transfer protein

protein:increased expression:coronary artery (human)

RGD

NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Atherosclerosis, susceptibility to

PMID:15732116 PMID:15937083 PMID:18413368

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

G

paraoxonase 1

susceptibility
treatment

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
RGD

PMID:16216721 PMID:16229851 PMID:16331452 PMID:19371607 PMID:21629682 More...

RGD:5509927, RGD:11552582, RGD:8547574, RGD:8547562

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

paraoxonase 3

mRNA:altered expression::human transgene expression in ApoE-KO mice was protective

RGD

NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855

G

peroxisome proliferator-activated receptor gamma

protein:increased expression:aortic sinus, endothelium (mouse)
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:18269830 PMID:15779851

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

prostaglandin E synthase 3

protein:decreased expression:mammary arteries (human)

RGD

NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084

G

prostaglandin I2 synthase

mRNA:decreased expression:artery (human)

RGD

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

retinol binding protein 4

exacerbates
disease_progression

APOE knockout
associated with type 2 diabetes mellitus; mRNA,protein:increased expression:adipose tissue, blood serum (rat)

RGD

PMID:28122883 PMID:33889291

RGD:329845881, RGD:329849122

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

stearoyl-CoA desaturase

treatment

RGD

PMID:29593532 PMID:33011372 PMID:23650230

RGD:401827839, RGD:401842381, RGD:401842363

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

stearoyl-Coenzyme A desaturase 2

treatment

RGD

NCBI chr 1:243,169,171...243,182,231
Ensembl chr 1:243,169,236...243,182,232

G

selectin L

RGD

NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456

G

selectin P

protein:increased expression:aorta

RGD

PMID:19834105 PMID:22340239

RGD:6478699, RGD:6480102

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

secretion regulating guanine nucleotide exchange factor

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr 1:96,949,660...97,152,529
Ensembl chr 1:96,949,661...97,152,496

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sirtuin 1

associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20068143 PMID:21810449

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

sterol O-acyltransferase 1

ameliorates

myeloid knockout

RGD

NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494

G

suppressor of cytokine signaling 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787

G

superoxide dismutase 1

severity

mRNA:decreased expression:thoracic aorta (mouse)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20720404 PMID:20347443

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12677255 PMID:20720404

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sterol regulatory element binding transcription factor 1

treatment

RGD

PMID:29593532 PMID:31601342 PMID:33011372 PMID:23650230

RGD:401827839, RGD:401850587, RGD:401842381, RGD:401842363

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

sterol regulatory element binding transcription factor 2

treatment

RGD

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism
associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)

CTD
RGD

PMID:19330073 PMID:33889291

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

staufen double-stranded RNA binding protein 1

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr 3:155,680,000...155,725,969
Ensembl chr 3:155,680,000...155,725,909

G

TIMP metallopeptidase inhibitor 1

ameliorates

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 2

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

treatment
ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20720404 PMID:15823270 PMID:29593532 PMID:35854140

RGD:7401235, RGD:401827839, RGD:242905195

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

ameliorates

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tripartite motif-containing 28

CTD Direct Evidence: marker/mechanism

NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380

G

transient receptor potential cation channel, subfamily V, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513

G

tetratricopeptide repeat domain 39B

treatment

RGD

NCBI chr 5:97,603,329...97,708,103
Ensembl chr 5:97,609,392...97,736,270

G

alpha tocopherol transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073

G

ubiquitin protein ligase E3 component n-recognin 1

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204

G

urocortin 2

protein:increased expression:coronary artery, endothelium (human)

RGD

NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172

G

vascular cell adhesion molecule 1

ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12677255 PMID:35854140

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vitamin D receptor

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

ameliorates

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atherosclerosis, susceptibility to

CTD
ClinVar
RGD

PMID:15732116 PMID:15937083 PMID:18413368 PMID:31757932

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vascular endothelial growth factor C

associated with hypercholesterolemia;protein:increased expression:serum:

RGD

NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848

G

vimentin

associated with arthritis,rheumatoid

RGD

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

WIZ zinc finger

associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)

RGD

NCBI chr 7:11,366,837...11,395,279
Ensembl chr 7:11,367,035...11,395,490

G

Wnt family member 1

ameliorates

RGD

NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651

CADASIL

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATR interacting protein

ClinVar Annotator: match by term: CASIL

PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More...

NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477

G

HtrA serine peptidase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

PMID:25741868 PMID:28492532

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

G

notch receptor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type

PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More...

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: CASIL

PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More...

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

CADASIL 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310

OMIM
ClinVar
MouseDO

PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More...

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

CADASIL2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HtrA serine peptidase 1

ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease

PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More...

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

G

notch receptor 3

ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

Cardiac Allograft Vasculopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor III, tissue factor

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

heterogeneous nuclear ribonucleoprotein K

RGD

NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997

G

platelet derived growth factor D

RGD

NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395

Cardiogenic Shock

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

plasminogen activator, tissue type

CTD Direct Evidence: therapeutic

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

Carotid Atherosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine-glyoxylate aminotransferase 2

DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926

G

cellular communication network factor 1

protein:increased expression:carotid artery segment (human)

RGD

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

fibroblast growth factor 21

protein:increased expression:serum:

RGD

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

FTO, alpha-ketoglutarate dependent dioxygenase

DNA:SNP:intron:rs9937354 (human)

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glutamate-ammonia ligase

RGD

NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108

G

glutathione peroxidase 3

associated with type 2 diabetes mellitus

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

histidine-rich glycoprotein

disease_progression

protein:increased expression:carotid artery segment (human)

RGD

NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389

G

interferon beta 1

ameliorates

RGD

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

intelectin 1

severity

protein:decreased expression:blood serum (human)

RGD

NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227

G

lysine methyltransferase 2D

severity

RGD

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:carotid artery segment (human)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nuclear receptor subfamily 1, group H, member 3

exacerbates

DNA:silent mutation:exon 4:c.297C>T (rs2279238) (human)

RGD

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

proprotein convertase subtilisin/kexin type 5

protein:increased expression:myofibroblast:

RGD

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

G

phosphatase and actin regulator 1

severity

DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human)

RGD

NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831

G

retinol binding protein 4

severity

protein:increased expression:blood serum (human)

RGD

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

sirtuin 1

mRNA, protein:decreased expression:carotid artery segment

RGD

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

Carotid Intimal Medial Thickness 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carotid intimal medial thickness 1 | ClinVar Annotator: match by term: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY

PMID:25741868 PMID:27749844 PMID:28492532

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

cerebral atherosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kalirin, RhoGEF kinase

susceptibility

DNA:SNP:intron: (rs6438833) (human)

RGD

NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HtrA serine peptidase 1

ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease

PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More...

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

G

purine rich element binding protein A

ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease

PMID:24500651 PMID:27148565

NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513

coronary artery disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

RGD
GAD

PMID:11086027 PMID:15118671

RGD:1600951, RGD:1331525

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

ATP binding cassette subfamily C member 6

DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)

RGD

NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464

G

ATP binding cassette subfamily G member 5

CTD Direct Evidence: marker/mechanism

PMID:11099417 PMID:11138003

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

PMID:11099417 PMID:25741868

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

G

acetyl-CoA acetyltransferase 2

susceptibility

DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp

RGD

NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821

G

angiotensin I converting enzyme

susceptibility

DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14989558 PMID:12975417 PMID:15118671

RGD:1566498, RGD:1331525

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

acid phosphatase 1

RGD

NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021

G

ADAM metallopeptidase with thrombospondin type 1 motif, 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328

G

adiponectin, C1Q and collagen domain containing

susceptibility

protein:decreased expression:adipose tissue
associated with type 2 diabetes mellitus; DNA:SNP: (rs2241766) +45T>G(human)

RGD

PMID:17878891 PMID:27218147

RGD:5686802, RGD:329956419

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adrenoceptor beta 3

no_association

DNA:missense mutation:cds:p.W64R (human)
DNA:missense mutation:cds:p.W64R rs4994 (human)

RGD

PMID:9126344 PMID:11229427

RGD:1559325, RGD:5684412

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

androgen-dependent TFPI-regulating protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,907,758...22,993,834
Ensembl chr17:22,930,740...22,993,826

G

advanced glycosylation end product-specific receptor

susceptibility

DNA:polymorphism:cds:p.G82S (human)
associated with Mucocutaneous Lymph Node Syndrome

RGD

PMID:20668462 PMID:22337222

RGD:6767569, RGD:8695960

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

GAD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

susceptibility

DNA:polymorphism:3' utr:1166A>C

RGD
GAD

PMID:12975417 PMID:15118671

RGD:1566498, RGD:1331525

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

alanine-glyoxylate aminotransferase 2

DNA:missense mutation:cds:rs37369, rs16899974 (human)

RGD

NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926

G

alpha-2-HS-glycoprotein

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:SNPs

PMID:17062776 PMID:17062776

RGD:1625792, RGD:1625792

NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999

G

AKT serine/threonine kinase 1

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 5-lipoxygenase activating protein

DNA:snps:multiple (human)

RGD

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

adenosine monophosphate deaminase 1

susceptibility

DNA:SNP:exon 2:34C>T (human)

RGD

NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938

G

angiopoietin-like 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519

G

ankyrin repeat and sterile alpha motif domain containing 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148

G

amyloid P component, serum

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298

G

aph-1 homolog B, gamma secretase subunit

DNA:SNP:CDS:p.F217L (rs1047552) (human)

RGD

NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27135400 PMID:2128269 PMID:15118671

RGD:1601188, RGD:1331525

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A2

protein:decreased expression:serum

RGD

NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355

G

apolipoprotein A5

no_association

DNA:polymorphism:promoter:-1131T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-1131T>C, c.56C>G (human)

CTD
RGD

PMID:24097064 PMID:15177130 PMID:15306190

RGD:2313322, RGD:1578412

NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816

G

apolipoprotein B

no_association

DNA:SNP:CDS:rs1042031 (human)

RGD
GAD

PMID:9585673 PMID:28167353 PMID:15118671 PMID:1732399

RGD:1578418, RGD:329901772, RGD:1331525, RGD:1578417

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24097064 PMID:14709372 PMID:15118671 PMID:15059615

RGD:1578443, RGD:1331525, RGD:1626412

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

susceptibility

DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human)
associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human)
DNA:missense mutation:cds:p.C112R (human)

RGD
GAD

PMID:14563588 PMID:28808185 PMID:15118671 PMID:15059615 PMID:12860263

RGD:1580039, RGD:13703132, RGD:1331525, RGD:1626412, RGD:1578449

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein M

susceptibility

DNA:SNP:promoter:g.-778T>C(rs805296)(human)

RGD

NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550

G

androgen receptor

GAD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

Rho GTPase activating protein 31

susceptibility

associated with nicotine dependence;DNA:SNP: (rs10934490) (human)

RGD

NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564

G

ATPase plasma membrane Ca2+ transporting 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295

G

butyrylcholinesterase

susceptibility

DNA:polymorphism: :p.A539T (human)

RGD

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

BMP/retinoic acid inducible neural specific 3

DNA:SNP: :rs12732361(human), associated with male.

RGD

NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770

G

butyrophilin-like 2

susceptibility

associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human)

RGD

NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341

G

similar to human chromosome 1 open reading frame 167

DNA:SNP: :rs56001051(human)

RGD

NCBI chr 5:158,495,514...158,505,671

G

calcium responsive transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462

G

cystathionine beta synthase

CBS variant c.844ins68

RGD

NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764

G

C-C motif chemokine ligand 2

protein:increased expression:myocardium (rat)
ClinVar Annotator: match by term: Coronary artery disease, modifier of
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)

ClinVar
CTD
RGD

PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:16934270 More...

RGD:8549513, RGD:8549577

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 26

susceptibility

protein:decreased expression:plasma (human)

RGD

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

G

C-C motif chemokine receptor 1

RGD

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

mRNA:increased expression:heart (rat)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD14 molecule

no_association

DNA:SNP:promoter

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD36 molecule

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human)
protein:increased expression:coronary artery, serum
associated with Kidney Failure, Chronic

CTD
RGD

PMID:16368305 PMID:17635572 PMID:22645426 PMID:23819214 PMID:16494885

RGD:2314209, RGD:8547776, RGD:7248750, RGD:7248436

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cadherin 5

RGD

NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368

G

cyclin-dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:23104008 PMID:34961328

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

chymotrypsin like elastase 2A

ClinVar Annotator: match by term: Coronary artery disease

PMID:25741868 PMID:31358993

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

G

cadherin, EGF LAG seven-pass G-type receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845

G

chitinase 3 like 1

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

chloride voltage-gated channel 6

susceptibility

DNA:SNP: :rs3737964(human)

RGD

NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059

G

clusterin

associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

carboxypeptidase E

severity

DNA:SNPs:CDS:intron 4, exon 4 (A2925G, G2855A) (human)

RGD

NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233

G

C-reactive protein

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24868163 PMID:19615354

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cystatin C

protein:increased expression:serum (human)

RGD

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cubilin

susceptibility

DNA:SNP,haplotypes:intron: (rs2291521)G>A (human)

RGD

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

cytochrome b-245 alpha chain

RGD
GAD

PMID:14709372 PMID:15118671

RGD:1578443, RGD:1331525

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

cytochrome P450, family 27, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

PMID:25741868 PMID:28492532

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

cytochrome P450, family 2, subfamily r, polypeptide 1

DNA:SNP:CDS:rs10741657 (human)

RGD

NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759

G

DAB2 interacting protein

onset

DNA:SNP:CDS:rs7025486 (human)

RGD

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

dimethylarginine dimethylaminohydrolase 1

DNA:missense mutation:cds:rs997251 (human)

RGD

NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339

G

DDAH family member 2, ADMA-independent

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511

G

endothelin converting enzyme 1

protein:increased expression:smooth muscle cell,macrophage

RGD

PMID:10973835 PMID:8994440

RGD:1580909, RGD:7244168

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

G

endothelin 1

treatment
severity

protein:increased expression:atherosclerotic lesions (human)
associated with Hypertension;DNA:missense mutation:cds:p.L198N (human)

RGD

PMID:7968078 PMID:11927217 PMID:18923236

RGD:4144886, RGD:8662294, RGD:8661705

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endoglin

severity

protein:increased expression:plasma (human)

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

epoxide hydrolase 2

RGD

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:SNP: :rs13181(human)

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9396482 PMID:20559769 PMID:16159931

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20559769 PMID:16099331

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

treatment

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor VII

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
DNA:polymorphisms:cds:R353Q (human)

RGD

PMID:10599031 PMID:8522401 PMID:11334615

RGD:2312400, RGD:2312408, RGD:2312397

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

fatty acid binding protein 2

associated with Diabetes Mellitus, Type 2 (MeSH:D003924)

RGD

NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089

G

Fc gamma receptor 2A

DNA:polymorphism: :p.H131R (human)

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 3A

susceptibility

DNA:SNP:exon:p.F158V (rs396991)(human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

FES proto-oncogene, tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934

G

fibrinogen beta chain

RGD

NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979

G

fibroblast growth factor 2

associated with Diabetes Mellitus

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

FTO, alpha-ketoglutarate dependent dioxygenase

DNA:SNP: :rs9939609 (human)
DNA:SNP:intron:rs9939609 (human)

RGD

PMID:24622111 PMID:28167353

RGD:329812039, RGD:329901772

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

furin (paired basic amino acid cleaving enzyme)

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314

G

glucokinase

susceptibility

DNA:SNP:promoter:-30G>A (human)

RGD

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055

G

Gfo/Idh/MocA-like oxidoreductase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,400,142...21,504,972
Ensembl chr17:21,399,479...21,499,938

G

gamma-glutamyl carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063

G

gap junction protein, alpha 4

RGD

NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925

G

G protein subunit beta 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

G

glycoprotein VI

treatment

protein:increased expression:platelet (human)

RGD

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

glutathione peroxidase 1

cardiovascular complications in type 2 diabetics
DNA:repeat:exon

RGD

PMID:16338763 PMID:12655278

RGD:1600708, RGD:1600677

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

mRNA:increased expression:epicardial fat

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione-disulfide reductase

cardiovascular complications in type 2 diabetics

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:deletion

RGD

PMID:19102712 PMID:16620396

RGD:2306625, RGD:2306633

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:deletion

RGD

PMID:19102712 PMID:16620396

RGD:2306625, RGD:2306633

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671

G

H19 imprinted maternally expressed transcript

susceptibility

DNA:SNPs,haplotype:intron: (rs2735971,rs2839698,rs3024270) (human)

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

HECT domain E3 ubiquitin protein ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987

G

homeostatic iron regulator

no_association

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hepatocyte growth factor

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

HHIP-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,219,616...127,243,839
Ensembl chr 6:127,220,014...127,242,564

G

3-hydroxy-3-methylglutaryl-CoA reductase

RGD

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

heme oxygenase 1

no_association
susceptibility

DNA:repeat:promoter
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12136229 PMID:14691581 PMID:12377749 PMID:12136229

RGD:1580470, RGD:1580454, RGD:1598401

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

HNF1 homeobox A

susceptibility

DNA:SNP:intron 1: (rs7310409) G>A (human)
DNA:SNP,haplotypes:intron: (rs55783344) C>T(human)
DNA:SNPs,haplotypes:multiple

RGD

PMID:25202455 PMID:33004870 PMID:28035729

RGD:329901832, RGD:329901841, RGD:329901837

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

haptoglobin

protein:increased expression:serum

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

heparan sulfate-glucosamine 3-sulfotransferase 1

ClinVar Annotator: match by term: Coronary artery disease

PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 More...

NCBI chr14:71,185,826...71,223,263
Ensembl chr14:71,185,682...71,223,248

G

hydroxysteroid 11-beta dehydrogenase 1

sexual_dimorphism

associated with obesity;mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687

G

heat shock protein family D (Hsp60) member 1

severity

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

islet cell autoantigen 1-like

CTD Direct Evidence: marker/mechanism

NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134

G

interleukin 10

no_association
susceptibility

DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human)
DNA:SNP:promoter:-1082A>G (rs1800896) (human)

RGD

PMID:16460885 PMID:29525679 PMID:29525679

RGD:1598621, RGD:14975129, RGD:14975129

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 15

associated with Hypertension;protein:increased expression:serum

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 1 beta

mRNA:increased expression:peripheral blood (human)

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor-like 1

severity

DNA:polymorphisms: :-27307T>A, -27614C>A (human)

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

insulin receptor substrate 1

DNA:polymorphism:exon:G972R
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10591678 PMID:10591678

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

integrin subunit alpha 2

no_association

RGD

NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

junctional cadherin 5 associated

CTD Direct Evidence: marker/mechanism

NCBI chr17:53,089,382...53,130,996
Ensembl chr17:53,089,382...53,130,967

G

kalirin, RhoGEF kinase

susceptibility
onset
severity

DNA:SNP:intron: (rs9289231) T>G (human)
associated with nicotine dependence; DNA:SNPs:multiple
associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs9289231) T>G (human)
DNA:SNP:intron: (rs9289231) (human)

RGD

PMID:30483314 PMID:19706030 PMID:27218147 PMID:25316661

RGD:329955537, RGD:329970276, RGD:329956419, RGD:11076452

NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610

G

potassium voltage-gated channel subfamily E regulatory subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

potassium inwardly-rectifying channel, subfamily J, member 8

OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466

NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603

G

kinesin family member 6

sexual_dimorphism
no_association
treatment

DNA:SNP: :rs20455 (human)
associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human)

RGD

PMID:18222354 PMID:25629058 PMID:21458191 PMID:26443250 PMID:26997531 More...

RGD:243048446, RGD:243048454, RGD:243048451, RGD:11527801, RGD:243048449, RGD:243048447

NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006

G

Klotho

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter: -G395>A (human)

CTD
RGD

PMID:12669274 PMID:16979405 PMID:16579981

RGD:1581721, RGD:1581723

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

low density lipoprotein receptor

no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21378990 PMID:27135400 PMID:16459141

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

leptin receptor

susceptibility

DNA:SNP:cds:p.Q223R(human)

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipase A, lysosomal acid type

CTD Direct Evidence: marker/mechanism

PMID:21378988 PMID:34961328 PMID:35590109

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

lipase C, hepatic type

susceptibility
no_association

associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human)
DNA:SNP,haplotypes: (rs17269397)A>G (human)

RGD
GAD

PMID:11916946 PMID:33004870 PMID:15118671 PMID:12689525 PMID:15099346

RGD:2308839, RGD:329901841, RGD:1331525, RGD:1600664, RGD:1600663

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

lipase G, endothelial type

RGD

NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260

G

leiomodin 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900

G

lysyl oxidase

RGD

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

lipoprotein lipase

RGD

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Coronary artery disease

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

LDL receptor related protein 8

no_association
onset

DNA:missense mutation:cds:p.R952Q (human)

RGD

PMID:18592168 PMID:17847002

RGD:2306125, RGD:2306124

NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15266304 PMID:15973460

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

lumican

RGD

NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793

G

mitogen activated protein kinase kinase kinase 7

associated with hypothyroidism;mRNA:decreased expression:venous blood (human)

RGD

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

G

methionine adenosyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493

G

myocyte enhancer factor 2a

RGD

NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948

G

MIA SH3 domain ER export factor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coronary artery disease

PMID:21378990 PMID:25741868 PMID:34961328

NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972

G

microRNA 1

disease_progression

miRNA:decreased expression:blood plasma (human)

RGD

NCBI chr18:1,887,537...1,887,623

G

microRNA 126a

disease_progression
severity

miRNA:increased expression:blood plasma (human)
associated with Stable Angina,

PMID:25728840 PMID:27497911

RGD:11056497, RGD:401850779

NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180

G

microRNA 133a-1

miRNA:decreased expression:blood plasma (human)

RGD

NCBI chr18:1,885,082...1,885,168

G

microRNA 145

disease_progression

miRNA:decreased expression:artery wall (human)

RGD

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 146a

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: (rs2910164) (human)
miRNA:increased expression:peripheral blood mononuclear cell, plasma

CTD
RGD

PMID:20524934 PMID:26909569 PMID:31866771

RGD:329337364, RGD:21081515

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 146b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525

G

microRNA 155

miRNA:decreased expression:peripheral blood mononuclear cell, plasma

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 195

miRNA:decreased expression:blood plasma (human)

RGD

NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924

G

microRNA 208a

miRNA:decreased expression:blood plasma (human)

RGD

NCBI chr15:28,425,570...28,425,652

G

microRNA 21

miRNA:increased expression:peripheral blood mononuclear cell, plasma
miRNA:increased expression:blood plasma (human)

RGD

PMID:31866771 PMID:25728840

RGD:21081515, RGD:11056497

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 214

miRNA:increased expression:blood plasma (human)

RGD

NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481

G

microRNA 223

treatment

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 30a

disease_progression

miRNA:increased expression:blood plasma (human)

RGD

NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670

G

microRNA 30e

miRNA:increased expression:plasma, extracellular exosome (human)

RGD

NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323

G

microRNA 320a

disease_progression

miRNA:increased expression:blood plasma (human)

RGD

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

microRNA 423

disease_progression

DNA:SNP: :rs6505162 (human)
miRNA:decreased expression:serum

RGD

PMID:30289085 PMID:32404537

RGD:158014893, RGD:158014898

NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226

G

MLX interacting protein-like

susceptibility

DNA:SNPs,haplotypes: (rs3812316) (human)
DNA:SNP:cds: G771C, Q241H (rs381231)
DNA:SNP:cds: C771G, H241Q

RGD

PMID:21726544 PMID:19571538 PMID:25179879

RGD:401794579, RGD:401794582, RGD:401794581

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

matrix metallopeptidase 1

severity

DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human)

RGD

PMID:15619398 PMID:17893005

RGD:1582527, RGD:7207049

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 12

susceptibility

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 3

DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human)
CTD Direct Evidence: marker/mechanism
associated with Mucocutaneous Lymph Node Syndrome

CTD
RGD

PMID:8662692 PMID:17893005 PMID:16100452

RGD:7207049, RGD:8693322

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

susceptibility
treatment

RGD

PMID:15191941 PMID:26261622

RGD:1582644, RGD:11344965

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

muscle RAS oncogene homolog

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:35590109

NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408

G

mitochondrial ribosomal protein S6

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:34961328

NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484

G

methylenetetrahydrofolate reductase

no_association
susceptibility

DNA:transition:cds:g.677C>T (human)
DNA:SNPs: (rs1801133, rs4846049) (Human)

RGD

PMID:15648053 PMID:24315498 PMID:12387655

RGD:1580579, RGD:401850782, RGD:6893453

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

myosin light chain kinase

susceptibility

associated with nicotine dependence; DNA:SNP: (rs16834817)

RGD

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

nicotinamide phosphoribosyltransferase

RGD

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

N-acetyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

neurobeachin-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750

G

nerve growth factor

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

nicotinamide N-methyltransferase

severity

protein:increased expression:blood serum (human)

RGD

NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655

G

nucleotide-binding oligomerization domain containing 2

DNA:polymorphisms: :p.G908R, 3020_3021insC (human)

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

susceptibility

DNA:duplication:intron:IVS4?-?+27 (human)
CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-786T>C (human)
DNA:snp:cds:c.894G>T (human)

CTD
RGD

PMID:10510054 PMID:14989558 PMID:17267746 PMID:19696404 PMID:8564837 More...

RGD:7421529, RGD:7771578, RGD:7771567

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

natriuretic peptide A

DNA:snp:cds:c.2238T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human)

RGD

PMID:12514664 PMID:22170009

RGD:1579982, RGD:7247716

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 1, group H, member 3

associated with type 2 diabetes mellitus;mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor subfamily 3, group C, member 1

DNA:missense mutation:cds:p.N363S (human)

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP,haplotype: :p.S326C (rs1052133) (human)

RGD

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

oxidized low density lipoprotein receptor 1

severity

DNA:snp:3' utr:T>C (human)
DNA:missense mutation:cds:p.K167N (human)

RGD

PMID:12810610 PMID:15562935

RGD:1580995, RGD:1580994

NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523

G

pappalysin

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11586954 PMID:16055491

NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666

G

presenilin associated, rhomboid-like

susceptibility

DNA:missense mutation:cds:p.L262V (human)

RGD

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

proprotein convertase subtilisin/kexin type 9

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:27135400

NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688

G

platelet derived growth factor D

CTD Direct Evidence: marker/mechanism

PMID:21378988 PMID:34961328

NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395

G

platelet and endothelial cell adhesion molecule 1

no_association

DNA:missense mutations:cds:p.N536S, p.G670R (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L125V (human)
DNA:polymorphism:5' utr:g.53G>A (human)

CTD
RGD

PMID:28530674 PMID:11795274 PMID:10780329 PMID:12732396

RGD:2311656, RGD:6771225, RGD:1581010

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

phosphatase and actin regulator 1

susceptibility
sexual_dimorphism

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation, hypomethylation:promoter, exon: (human)
DNA:SNP:exon: (rs4714955) (human)
DNA:SNPs:intron: (rs9381439, rs9349379) (human)
associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.12903957A>G (rs9349379) (human)
DNA:SNP:intron:g.12903725A>G (rs9349379) (human)

CTD
RGD

PMID:21378990 PMID:22751097 PMID:26098115 PMID:34961328 PMID:31499127 More...

RGD:401901251, RGD:401901243, RGD:401900688, RGD:401900687, RGD:401900135, RGD:401851919

NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831

G

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544

G

phospholipase A2 group VII

disease_progression
susceptibility

DNA:polymorphism: :p.A379V (human)

RGD

PMID:17070179 PMID:15115767

RGD:6482777, RGD:6482781

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipid phosphatase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205

G

patatin-like phospholipase domain containing 3

associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human)

RGD

NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077

G

paraoxonase 1

susceptibility

DNA:missense mutation:cds:p.Q192R (human)
ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to
CTD Direct Evidence: marker/mechanism|therapeutic
protein:increased activity:serum (human)

ClinVar
CTD
RGD

PMID:7916578 PMID:8098250 PMID:8675673 PMID:8770857 PMID:9215303 More...

RGD:1580196, RGD:8547681, RGD:1580203

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

paraoxonase 2

severity

DNA:missense mutation:cds:p.C311S (human)

RGD

NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248

G

peroxisome proliferator activated receptor alpha

susceptibility

DNA:snp:intron: (human)

RGD

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor gamma

protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human)

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 4, catalytic subunit

mRNA:decreased expression:blood (human)

RGD

NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659

G

PR/SET domain 16

CTD Direct Evidence: marker/mechanism

NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Coronary artery disease

PMID:25741868 PMID:28492532

NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142

G

protein C receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903

G

proline and serine rich coiled-coil 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

parathyroid hormone

protein:increased expression:serum (human)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine phosphatase, non-receptor type 1

DNA:SNP:exon 8:g.981C>T (human)

RGD

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp: cds: rs2476601

RGD

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

protein tyrosine phosphatase, receptor type, D

DNA:SNP:intron: (rs10115782) (human)

RGD

NCBI chr 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396

G

retinol binding protein 4

sexual_dimorphism
susceptibility
severity
disease_progression

protein:increased expression:blood plasma (human)
DNA:SNP:intron: (rs7094671) (human)
associated with hypothyroidism;protein:increased expression:blood serum (human)
protein:increased expression:epicardial fat (human)

RGD

PMID:25437889 PMID:25479076 PMID:31278889 PMID:18854400 PMID:21645024

RGD:329845573, RGD:329845882, RGD:329845849, RGD:329845843, RGD:329845584

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

ryanodine receptor 2

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

seryl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277

G

selectin E

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human)
ClinVar Annotator: match by term: Coronary artery disease

PMID:25741868 PMID:17578587

NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741

G

selectin P

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

serpin family A member 1

protein:increased expression:serum

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family E member 1

susceptibility

DNA:insertion:promoter: (human)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 2

RGD

NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

solute carrier family 2 member 4

mRNA:decreased expression:epicardial fat, subcutaneous adipose tissue (human)

RGD

NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565

G

solute carrier family 5 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883

G

SMAD family member 3

ClinVar Annotator: match by term: Coronary artery disease

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

sterol O-acyltransferase 2

susceptibility

DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human)

RGD

NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915

G

superoxide dismutase 1

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 3

RGD

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

sortilin 1

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:34961328

NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354

G

secreted phosphoprotein 1

In type 2 diabetic patients

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

sterol regulatory element binding transcription factor 1

susceptibility
disease_progression
severity

DNA:SNP, haplotype:: -36delG (human)
associated with type 2 diabetes mellitus; mRNA:increased expression:epicardial fat (human)
mRNA:decreased expression:blood serum (human)

RGD

PMID:12752570 PMID:28367087 PMID:31610782

RGD:401827912, RGD:401842368, RGD:401842364

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

sterol regulatory element binding transcription factor 2

disease_progression

associated with type 2 diabetes mellitus;mRNA:increased expression:epicardial fat (human)

RGD

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

transporter 1, ATP binding cassette subfamily B member

GAD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529

G

transcription factor 21

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: (rs12190287) (human)

CTD
RGD

PMID:21378990 PMID:22751097 PMID:26909569

NCBI chr 1:22,701,353...22,704,212
Ensembl chr 1:22,701,353...22,704,202

G

TEK receptor tyrosine kinase

protein:increased expression:plasma

RGD

NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

GAD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombomodulin

severity

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tolloid-like 1

severity

associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human)

RGD

NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20524934 PMID:15632890

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

protein:increased expression:serum

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 1A

severity

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

troponin I3, cardiac type

RGD

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

tumor protein p53

DNA:misssense mutation: :p.R72P (rs1042522) (human)

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TNF receptor associated factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507

G

tribbles pseudokinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731

G

titin

RGD

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

G

vesicle-associated membrane protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212

G

vesicle-associated membrane protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897

G

vitamin D receptor

severity

DNA:SNP (human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:14668888 PMID:15937083 PMID:15754021

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

protein:increased expression:monocyte

RGD

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

vitronectin

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

G

WD repeat domain 12

CTD Direct Evidence: marker/mechanism

NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469

G

WRN RecQ like helicase

RGD

NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450

G

X-ray repair cross complementing 1

onset

DNA:polymorphism:: (rs1799782) (human)

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

X-ray repair cross complementing 3

susceptibility

DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human)

RGD

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

G

zinc finger, C3HC-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933

G

zinc finger FYVE-type containing 21

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411

Coronary Artery Disease, Autosomal Dominant 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myocyte enhancer factor 2a

ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:14645853 PMID:15496429 PMID:15841183 PMID:25741868

NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948

Coronary Artery Disease, Autosomal Dominant 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2

PMID:25741868 PMID:28492532

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17332414 PMID:23703864 PMID:25741868 PMID:27713038 PMID:28492532 More...

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

Coronary Artery Disease, Development of, in HIV

term browser