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 (812) Mouse (772) Human (2412) Chinchilla (684) Bonobo (733) Dog (741) Squirrel (705) Pig (733) Green Monkey (724) Naked Mole-rat (678) All
Genes (733)

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

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

susceptibility

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

acetyl-CoA acetyltransferase 1

mRNA:increased expression:atherosclerotic lesions (human)

NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787

G

acetyl-CoA acetyltransferase 2

NCBI chr 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606

G

allograft inflammatory factor 1

NCBI chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125

G

aldo-keto reductase family 1 member B

associated with Diabetes Mellitus, Experimental

NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095

G

aldehyde dehydrogenase 3 family member A1

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

NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504

G

arachidonate 5-lipoxygenase

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

arachidonate 5-lipoxygenase activating protein

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

PMID:17379835 PMID:18258817

RGD:2313905 RGD:2313913

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

alkaline phosphatase, biomineralization associated

protein:decrease expression:serum

NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688

G

apolipoprotein A1

treatment

associated with Kidney Failure, Chronic

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein B

associated with Obesity

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

PMID:17118406 PMID:18287887

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

apolipoprotein H

protein:increased expression:serum

NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483

G

ATM serine/threonine kinase

susceptibility

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

beta-2-microglobulin

associated with Kidney Diseases

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

C-C motif chemokine ligand 2

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

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

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

PMID:14656931 PMID:16259780 PMID:19752857

RGD:2307165 RGD:4890030 RGD:4891452

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

C-C motif chemokine receptor 5

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

CD36 molecule (CD36 blood group)

severity

protein:increased expression:plasma

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

cadherin 13

protein:increased expression:aorta

NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996

G

chitinase 3 like 1

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

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

C-X3-C motif chemokine receptor 1

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

G

dual specificity phosphatase 1

protein:increased expression:aorta

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

early growth response 1

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

PMID:10712437 PMID:14670837 PMID:21099169

RGD:5131645 RGD:5131652 RGD:5131874

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

estrogen receptor 1

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

coagulation factor XIII A chain

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

G

coagulation factor VII

severity

protein:increased activity:plasma (human)

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fibulin 5

NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304

G

furin, paired basic amino acid cleaving enzyme

NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

glutathione peroxidase 1

associated with Diabetes Mellitus, Experimental

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione S-transferase alpha 4

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15064094 PMID:20177342

NCBI chr 6:52,532,942...52,550,404
Ensembl chr 6:54,171,318...54,188,976

G

hepatocyte growth factor

severity

protein:increased expression:serum:

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

heme oxygenase 1

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

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 chr 4:5,797,803...5,829,976
Ensembl chr 4:11,108,374...11,109,297

G

heat shock protein family D (Hsp60) member 1

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

inducible T cell costimulator

NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734

G

interferon gamma receptor 1

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

G

insulin like growth factor 1

protein:increased expression:blood

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 3

protein:increased expression:blood

NCBI chr 7:46,564,234...46,573,145

G

interleukin 10

susceptibility

PMID:12765335 PMID:16523426

RGD:1598469 RGD:1598477

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 15

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

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 18 binding protein

NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511

G

interleukin 1 beta

susceptibility

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

PMID:17132885 PMID:17189873 PMID:17213232

RGD:1626624 RGD:1626627 RGD:1626629

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 6 cytokine family signal transducer

susceptibility

DNA:SNPs

NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817

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

NCBI chr 5:61,073,507...61,247,565
Ensembl chr 5:62,692,673...62,865,769

G

integrin subunit alpha 2

susceptibility

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 7

Atherogenesis

NCBI chr12:33,195,602...33,226,796
Ensembl chr12:33,923,549...33,950,886

G

integrin subunit beta 3

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

kinase insert domain receptor

PMID:15665766 PMID:16873710

RGD:1581706 RGD:1581713

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

lecithin-cholesterol acyltransferase

susceptibility

PMID:11809774 PMID:12673583

RGD:1581779 RGD:1581783

NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127

G

low density lipoprotein receptor

NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791

G

leptin receptor

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipase E, hormone sensitive type

PMID:10064727 PMID:10729384

RGD:1581867 RGD:1581868

NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066

G

lipase G, endothelial type

NCBI chr18:42,942,132...42,972,112
Ensembl chr18:46,292,154...46,320,652

G

lamin A/C

protein:increased expression:aorta

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

lysyl oxidase

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

LDL receptor related protein 1

susceptibility

associated with Hypercholesterolemia

PMID:14739216 PMID:17303763

RGD:1581910 RGD:1625012

NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979

G

lymphotoxin alpha

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

leukotriene B4 receptor

NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527

G

mitogen-activated protein kinase kinase kinase 7

ameliorates

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

mitogen-activated protein kinase 9

NCBI chr 5:175,437,167...175,495,469
Ensembl chr 5:182,748,381...182,795,135

G

MET proto-oncogene, receptor tyrosine kinase

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

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

matrix Gla protein

NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523

G

macrophage migration inhibitory factor

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

matrix metallopeptidase 1

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 12

PMID:15073384 PMID:16221765

RGD:1582354 RGD:1582361

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 13

susceptibility

PMID:12392760 PMID:16230484

RGD:1582544 RGD:1582549

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

G

matrix metallopeptidase 14

PMID:10731924 PMID:12526080

RGD:1582580 RGD:1582588

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 3

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

PMID:15823277 PMID:16317521

RGD:1580550 RGD:1582628

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

macrophage scavenger receptor 1

PMID:9069289 PMID:14664792 PMID:15567863

RGD:1582314 RGD:1582669 RGD:2306130

NCBI chr 8:15,335,795...15,421,472
Ensembl chr 8:12,088,873...12,175,927

G

NFKB inhibitor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,155,331...16,158,588

G

NME/NM23 nucleoside diphosphate kinase 2

protein:decreased expression:artery

NCBI chr17:45,255,982...45,261,541

G

nitric oxide synthase 1

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

notch receptor 4

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

G

NPC1 like intracellular cholesterol transporter 1

NCBI chr 7:45,227,289...45,256,094
Ensembl chr 7:45,297,271...45,324,692

G

natriuretic peptide C

NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244

G

neuropeptide Y

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

NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657

G

purinergic receptor P2Y12

NCBI chr 3:148,364,151...148,412,231

G

pappalysin 1

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

PMID:16614002 PMID:17510462

RGD:1642325 RGD:1642326

NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435

G

phospholipase A2 group XV

NCBI chr16:48,612,240...48,635,721
Ensembl chr16:68,006,105...68,030,812

G

paraoxonase 1

associated with Metabolic Syndrome X

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

peroxisome proliferator activated receptor gamma

treatment

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

peroxiredoxin 6

NCBI chr 1:148,988,836...149,000,345

G

prostaglandin D2 synthase

susceptibility

NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680

G

prostaglandin E receptor 4

NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148

G

prostaglandin-endoperoxide synthase 2

resistance

PMID:16458279 PMID:17643885

RGD:1581287 RGD:1642592

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:aorta

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

SUMO specific peptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,624,200...40,689,837
Ensembl chr12:41,507,348...41,558,969

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

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

sterol O-acyltransferase 2

susceptibility

NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074

G

thromboxane A synthase 1

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

G

transforming growth factor beta 1

protein:increased expression:aorta

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta receptor 2

protein:increased expression:aorta

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

toll like receptor 4

susceptibility

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

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

TNF receptor superfamily member 14

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

NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

TNF receptor superfamily member 1A

susceptibility

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF superfamily member 10

associated with Diabetes Mellitus, Experimental

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

very low density lipoprotein receptor

NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980

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

Ensembl chr16:25,161,229...25,220,151

G

BCL2 associated X, apoptosis regulator

ameliorates

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

complement C3

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

calcium voltage-gated channel auxiliary subunit gamma 4

mRNA:decreased expression:blood:

NCBI chr17:60,900,645...60,969,659

G

caspase 3

treatment

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

caspase 7

treatment

NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626

G

cellular communication network factor 1

ameliorates

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

desmocollin 2

ameliorates

NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:blood

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

GATA binding protein 5

susceptibility

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

Ensembl chr20:60,148,359...60,158,886

G

glycoprotein VI platelet

sexual_dimorphism
ameliorates

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

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr 5:146,447,939...146,456,476

G

glycogen synthase kinase 3 beta

treatment
ameliorates

PMID:26591365 PMID:32068187

RGD:13792778 RGD:267358468

NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Acute myocardial infarction

PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More...

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

interferon gamma

ameliorates

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ameliorates

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

G

interleukin 10

ameliorates

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

ameliorates

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 1 beta

ameliorates

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor like 1

G

interleukin 33

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

interleukin 4

ameliorates

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

ameliorates

NCBI chr 7:23,415,922...23,420,767

G

integrin subunit alpha M

treatment

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

kinesin family member 6

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

NCBI chr 6:38,917,083...39,306,190
Ensembl chr 6:40,234,426...40,616,738

G

NADH:ubiquinone oxidoreductase subunit B5

ameliorates

associated with obesity

NCBI chr 3:176,636,937...176,659,813
Ensembl chr 3:184,807,246...184,827,011

G

platelet factor 4

treatment

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

phospholipase C gamma 1

ameliorates

NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145

G

pro-platelet basic protein

treatment

NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702

G

phosphatase and tensin homolog

ameliorates

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

PMID:26973267 PMID:29990866 PMID:32595526

RGD:11526378 RGD:155882565 RGD:401851053

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

ras homolog family member A

ameliorates

NCBI chr 3:49,282,009...49,339,887

G

Ras like without CAAX 2

ameliorates

NCBI chr18:36,008,302...36,381,259
Ensembl chr18:39,557,814...39,930,393

G

succinate dehydrogenase complex iron sulfur subunit B

ameliorates

associated with obesity

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

serpin family G member 1

mRNA:increased expression:heart

NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639

G

T-box transcription factor 1

treatment

NCBI chr22:2,521,080...2,541,267

G

tumor necrosis factor

ameliorates

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

zinc finger E-box binding homeobox 1

ameliorates

NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550

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)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

serpin family E member 1

disease_progression

protein:decreased expression, decreased activity:heart:

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

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

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

apolipoprotein E

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

calpain 1

protein:increased activity:aorta

NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021

G

endothelin 1

exacerbates

associated with type 1 diabetes mellitus;

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

interleukin 33

protein:increased expression:artery:

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

low density lipoprotein receptor

NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791

G

myocardin

exacerbates

protein:decreased expression:aorta

NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659

G

NADPH oxidase 1

ameliorates

associated with type 1 diabetes mellitus;

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

pro-platelet basic protein

protein:increased expression:thrombus,artery

NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702

G

sterol O-acyltransferase 1

ameliorates

associated with Hypercholesterolemia

NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909

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:

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

arteriosclerosis obliterans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombopoietin

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

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

PMID:22022523 PMID:29593532

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

ATP binding cassette subfamily G member 1

treatment

NCBI chr21:28,534,697...28,619,590
Ensembl chr21:41,839,115...41,933,050

G

ATP binding cassette subfamily G member 5

treatment

CTD Direct Evidence: marker/mechanism

PMID:11138003 PMID:29593532

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

treatment

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

acetyl-CoA carboxylase alpha

treatment

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

G

adducin 1

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

NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

adiponectin, C1Q and collagen domain containing

treatment

CTD Direct Evidence: therapeutic

PMID:12451000 PMID:18931039

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

advanced glycosylation end-product specific receptor

treatment

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

PMID:19939336 PMID:20372816 PMID:20835270 PMID:21418204 PMID:21906738 More...

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

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensinogen

treatment

CTD Direct Evidence: marker/mechanism
associated with Hypertension

PMID:21925196 PMID:22539767 PMID:22977667

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

AKT serine/threonine kinase 1

severity

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

arachidonate 15-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:16303615 PMID:18206890

NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

apolipoprotein A1

treatment

CTD Direct Evidence: marker/mechanism

PMID:18287885 PMID:23078847 PMID:33861588

RGD:7241575 RGD:7241852

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A4

CTD Direct Evidence: therapeutic

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

apolipoprotein E

treatment

CTD Direct Evidence: marker/mechanism

PMID:1411543 PMID:7593602 PMID:9169506 PMID:9409251 PMID:9649566 More...

RGD:150521536 RGD:734968 RGD:7771549

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

BCL2 apoptosis regulator

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

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

BCL3 transcription coactivator

CTD Direct Evidence: marker/mechanism

NCBI chr19:41,696,162...41,708,485
Ensembl chr19:50,304,171...50,313,005

G

caspase 3

treatment

associated with type 2 diabetes mellitus

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

calcium sensing receptor

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

PMID:18852253 PMID:22527939

RGD:7205454 RGD:7205672

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

G

caveolin 1

treatment

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

C-C motif chemokine ligand 2

severity
treatment

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

PMID:11486244 PMID:12677255 PMID:12928151 PMID:15823270 PMID:20720404 More...

RGD:401842363 RGD:7401235 RGD:8548896

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

ameliorates

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cellular communication network factor 1

ameliorates

ApoE knockout mouse

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

cyclin D1

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

NCBI chr11:64,737,006...64,750,353

G

C-C motif chemokine receptor 5

treatment

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

C-C motif chemokine receptor 6

NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779

G

CD36 molecule (CD36 blood group)

treatment

PMID:19264766 PMID:20037584 PMID:26003171

RGD:11041151 RGD:6893502 RGD:6893559

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 molecule

treatment

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

PMID:16317521 PMID:20505314 PMID:23984971

RGD:1582628 RGD:5490534 RGD:8547801

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment

protein:increased expression:plasma
associated with Hypercholesterolemia

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

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

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cholesteryl ester transfer protein

CTD Direct Evidence: therapeutic

NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103

G

clusterin

treatment

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

cannabinoid receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090

G

collagen type IV alpha 2 chain

susceptibility

DNA:SNP: :rs72657934(human)

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

carnitine palmitoyltransferase 1A

treatment

NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481

G

C-reactive protein

disease_progression

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

PMID:16931792 PMID:18535598

NCBI chr 1:135,062,102...135,064,402

G

colony stimulating factor 1

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

PMID:9637704 PMID:16166801

RGD:7257575 RGD:734837

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

catenin beta 1

ameliorates

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

cathepsin B

NCBI chr 8:7,333,498...7,359,264

G

cathepsin D

NCBI chr11:1,789,326...1,800,524

G

cathepsin L

NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303

G

cathepsin S

NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318

G

C-X3-C motif chemokine receptor 1

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

G

cytochrome P450 family 27 subfamily A member 1

CTD Direct Evidence: marker/mechanism

PMID:11166758 PMID:19801147

NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474

G

DAB2 interacting protein

protein:alternative forms:coronary artery (human)

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

delta like canonical Notch ligand 4

ameliorates
treatment

PMID:22699504 PMID:30909142

RGD:155641244 RGD:155663380

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

dual specificity phosphatase 5

ameliorates

ApoE knockout mice

NCBI chr10:107,091,147...107,105,971

G

endothelin 1

treatment

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

egl-9 family hypoxia inducible factor 1

treatment

NCBI chr 1:206,915,541...206,976,656

G

ELOVL fatty acid elongase 5

treatment

NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878

G

epoxide hydrolase 2

NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749

G

estrogen receptor 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:11160157 PMID:11894143

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

estrogen receptor 2

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

F11 receptor

mRNA:increased expression:carotid artery

NCBI chr 1:136,399,766...136,424,722
Ensembl chr 1:140,324,943...140,346,890

G

coagulation factor II, thrombin

treatment

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

Fas cell surface death receptor

treatment

associated with type 2 diabetes mellitus

PMID:29213335 PMID:29593532

RGD:13792600 RGD:401827839

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

CTD Direct Evidence: marker/mechanism

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

Fc gamma receptor IIb

NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637

G

fibroblast growth factor 21

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

NCBI chr19:45,755,466...45,758,472

G

fibroblast growth factor receptor 2

treatment

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

FTO alpha-ketoglutarate dependent dioxygenase

sexual_dimorphism

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glutathione peroxidase 3

treatment

NCBI chr 5:146,447,939...146,456,476

G

granulin precursor

protein:increased expression:smooth muscle cell, macrophage

NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609

G

glutathione S-transferase mu 1

CTD Direct Evidence: marker/mechanism

Ensembl chr 1:127,979,238...128,010,411

G

3-hydroxyanthranilate 3,4-dioxygenase

treatment

Ldlr knockout mouse

NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887

G

histone deacetylase 4

ameliorates

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

histone deacetylase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 7:18,740,580...19,653,615
Ensembl chr 7:18,138,761...18,970,717

G

hes related family bHLH transcription factor with YRPW motif 1

treatment

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

high mobility group box 1

treatment

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

heterogeneous nuclear ribonucleoprotein C

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

NCBI chr14:2,022,280...2,083,215

G

histamine receptor H1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:11,074,451...11,199,871
Ensembl chr 3:11,541,294...11,542,757

G

heat shock protein family A (Hsp70) member 1A

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

PMID:20490736 PMID:22328194

RGD:5147595 RGD:7257649

NCBI chr 6:31,476,710...31,491,411

G

heat shock protein family A (Hsp70) member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,488,882...31,491,412

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

treatment

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

treatment

PMID:16732281 PMID:23685195

RGD:14695532 RGD:8655997

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

ameliorates

associated with Renal Insufficiency, Chronic

PMID:21245127 PMID:35854140

RGD:242905195 RGD:7175328

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2

associated with Diabetes Mellitus, Type 1

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 27

ameliorates

G

interleukin 6

treatment
ameliorates

CTD Direct Evidence: marker/mechanism

PMID:19330073 PMID:29593532 PMID:35854140

RGD:242905195 RGD:401827839

NCBI chr 7:23,415,922...23,420,767

G

integrin subunit alpha M

ameliorates

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

PMID:24716741 PMID:30913515 PMID:32938725

RGD:329853755 RGD:329901661 RGD:329901833

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

Janus kinase 2

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

potassium calcium-activated channel subfamily N member 4

ameliorates

ApoE knockout mouse

NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900

G

kinase insert domain receptor

treatment

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KH RNA binding domain containing, signal transduction associated 1

ameliorates

ApoE knockout mice

NCBI chr 1:31,297,843...31,345,148
Ensembl chr 1:32,312,598...32,342,582

G

klotho

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

low density lipoprotein receptor

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

PMID:9614153 PMID:11947894 PMID:18450471 PMID:22153697 PMID:22293196 More...

RGD:12910105 RGD:5490255

NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791

G

cytochrome b-245 light chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

low affinity immunoglobulin gamma Fc region receptor II-a

onset

DNA:polymorphism: :p.H131R (human)

NCBI chr 1:136,892,311...136,906,450

G

chymotrypsin-like elastase family member 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

G

lipoprotein(a)

associated with Diabetes Mellitus, Type 2 (CTD:0000679); protein:increased expression:serum, lipoprotein fraction:in women only
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:in Southeast Asians but not Caucasians

PMID:1465128 PMID:9770530 PMID:17845920 PMID:20303190 PMID:21484527

RGD:5509903 RGD:5509904

NCBI chr 6:158,434,394...158,628,028

G

LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated

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

NCBI chr19:17,785,580...17,801,866
Ensembl chr19:18,757,390...18,773,812

G

leukotriene A4 hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr12:93,589,758...93,624,529
Ensembl chr12:96,978,203...97,012,427

G

matrix metallopeptidase 1

susceptibility

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

PMID:11375412 PMID:21742783

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 2

treatment
ameliorates

PMID:16317521 PMID:20370796 PMID:31757932

RGD:1582628 RGD:242905202 RGD:8657031

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

mitochondrial ribosomal protein L45

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

NCBI chr17:18,949,525...18,974,651

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

ameliorates

ApoE knockout mice

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

myosin regulatory light chain interacting protein

treatment

NCBI chr 6:15,985,844...16,005,043
Ensembl chr 6:16,350,852...16,370,253

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024

G

nerve growth factor

protein:decreased expression:coronary artery

NCBI chr 1:87,223,597...87,276,759

G

nerve growth factor receptor

protein:increased expression:adventitia, vasa vasorum

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

nicotinamide N-methyltransferase

disease_progression

protein:increased activity:liver (mouse)

NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581

G

nucleotide binding oligomerization domain containing 2

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

non-POU domain containing octamer binding

severity

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

PMID:29673854 PMID:33626912

RGD:155882449 RGD:155900763

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

susceptibility

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

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

RGD:7771564 RGD:7771607

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

notch receptor 1

treatment

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: therapeutic

NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623

G

natriuretic peptide B

susceptibility

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

PMID:19413180 PMID:22863432

RGD:7247628 RGD:7248594

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

neuropeptide Y

severity

NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657

G

neuropeptide Y receptor Y1

NCBI chr 4:155,583,870...155,604,336
Ensembl chr 4:167,372,310...167,381,597

G

neuropeptide Y receptor Y2

NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231

G

neuropeptide Y receptor Y5

NCBI chr 4:155,603,739...155,612,302

G

nuclear receptor subfamily 1 group H member 2

treatment

PMID:29593532 PMID:33011372

RGD:401827839 RGD:401842381

NCBI chr19:47,340,077...47,346,737
Ensembl chr19:56,243,124...56,250,024

G

nuclear receptor subfamily 1 group H member 3

treatment

mRNA:increased expression:carotid artery segment (human)

PMID:15528463 PMID:29593532 PMID:33011372

RGD:401827839 RGD:401827901 RGD:401842381

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

nuclear receptor subfamily 1 group H member 4

CTD Direct Evidence: therapeutic

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

PMID:18093987 PMID:19124646

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

poly(ADP-ribose) polymerase family member 15

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

NCBI chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842

G

platelet derived growth factor D

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

NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273

G

platelet derived growth factor receptor beta

treatment

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

platelet and endothelial cell adhesion molecule 1

severity
resistance

protein:increased expression:carotid artery (human)

PMID:17659202 PMID:21960570 PMID:22053073

RGD:6771176 RGD:6771223 RGD:6771359

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

platelet factor 4

ameliorates

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

placental growth factor

NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964

G

phosphatase and actin regulator 1

exacerbates

mRNA:increased expression:carotid artery (human)

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

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

severity

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

phospholipase A2 group IIA

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627

G

phospholipase A2 group VII

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

PMID:12590019 PMID:21970837

RGD:6482784 RGD:7248796

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

plasminogen activator, tissue type

CTD Direct Evidence: therapeutic

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

plasminogen activator, urokinase

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

PMID:15096455 PMID:17706748

RGD:7241201 RGD:7241203

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

phospholipid transfer protein

protein:increased expression:coronary artery (human)

NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Atherosclerosis, susceptibility to

PMID:15732116 PMID:15937083 PMID:18413368

NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257

G

paraoxonase 1

treatment
susceptibility

CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:altered expression::human transgene expression in ApoE-KO mice was protective
associated with Beta-Thalassemia;protein:decreased activity:serum (human)

PMID:16043712 PMID:16216721 PMID:16229851 PMID:16331452 PMID:19371607 More...

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

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

paraoxonase 3

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

NCBI chr 7:87,314,788...87,354,020
Ensembl chr 7:100,902,432...100,941,611

G

peroxisome proliferator activated receptor gamma

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

PMID:15779851 PMID:18269830

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

prostaglandin E synthase 3

protein:decreased expression:mammary arteries (human)

NCBI chr12:32,221,908...32,247,228
Ensembl chr12:32,476,835...32,503,181

G

prostaglandin I2 synthase

mRNA:decreased expression:artery (human)

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

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)

PMID:28122883 PMID:33889291

RGD:329845881 RGD:329849122

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

selectin L

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

selectin P

protein:increased expression:aorta

PMID:19834105 PMID:22340239

RGD:6478699 RGD:6480102

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

secretion regulating guanine nucleotide exchange factor

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

NCBI chr11:17,841,133...18,066,211

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

sirtuin 1

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

PMID:20068143 PMID:21810449

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

sterol O-acyltransferase 1

ameliorates

myeloid knockout

NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909

G

suppressor of cytokine signaling 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

G

superoxide dismutase 1

severity

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

PMID:20347443 PMID:20720404

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12677255 PMID:20720404

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

sterol regulatory element binding transcription factor 1

treatment

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

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

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

G

sterol regulatory element binding transcription factor 2

treatment

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

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)

PMID:19330073 PMID:33889291

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

staufen double-stranded RNA binding protein 1

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

NCBI chr20:45,452,639...45,526,512
Ensembl chr20:46,517,772...46,578,024

G

TIMP metallopeptidase inhibitor 1

ameliorates

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

treatment
ameliorates

CTD Direct Evidence: marker/mechanism

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

RGD:242905195 RGD:401827839 RGD:7401235

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

ameliorates

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tripartite motif containing 28

CTD Direct Evidence: marker/mechanism

NCBI chr19:55,557,130...55,563,802
Ensembl chr19:64,371,477...64,377,144

G

transient receptor potential cation channel subfamily V member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579

G

tetratricopeptide repeat domain 39B

treatment

NCBI chr 9:14,994,729...15,127,877
Ensembl chr 9:15,502,811...15,633,374

G

alpha tocopherol transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:59,591,592...59,619,658
Ensembl chr 8:61,266,954...61,293,699

G

ubiquitin protein ligase E3 component n-recognin 1

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

NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725

G

urocortin 2

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

NCBI chr 3:48,484,628...48,485,179

G

vascular cell adhesion molecule 1

ameliorates

CTD Direct Evidence: marker/mechanism

PMID:12677255 PMID:35854140

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

vitamin D receptor

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

vascular endothelial growth factor A

ameliorates

ClinVar Annotator: match by term: Atherosclerosis, susceptibility to

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

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

vascular endothelial growth factor C

associated with hypercholesterolemia;protein:increased expression:serum:

NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030

G

vimentin

associated with arthritis,rheumatoid

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

G

WIZ zinc finger

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

NCBI chr19:14,952,948...14,981,300
Ensembl chr19:15,940,642...15,965,859

G

Wnt family member 1

ameliorates

NCBI chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583

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:25741868 PMID:28492532 More...

NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

G

HtrA serine peptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

notch receptor 3

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:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More...

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: CASIL

PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More...

NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

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

PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More...

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

CADASIL2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

age-related maculopathy susceptibility 2

ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551

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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

notch receptor 3

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

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

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

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

heterogeneous nuclear ribonucleoprotein K

NCBI chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756

G

platelet derived growth factor D

NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273

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 chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

plasminogen activator, tissue type

CTD Direct Evidence: therapeutic

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

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)

NCBI chr 5:75,322,351...75,373,261
Ensembl chr 5:80,601,554...80,652,575

G

cellular communication network factor 1

protein:increased expression:carotid artery segment (human)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

fibroblast growth factor 21

protein:increased expression:serum:

NCBI chr19:45,755,466...45,758,472

G

FTO alpha-ketoglutarate dependent dioxygenase

DNA:SNP:intron:rs9937354 (human)

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glutamate-ammonia ligase

NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411

G

glutathione peroxidase 3

associated with type 2 diabetes mellitus

NCBI chr 5:146,447,939...146,456,476

G

histidine rich glycoprotein

disease_progression

protein:increased expression:carotid artery segment (human)

NCBI chr 3:183,701,069...183,712,365
Ensembl chr 3:192,168,299...192,180,539

G

interferon beta 1

ameliorates

NCBI chr 9:20,884,742...20,886,317

G

intelectin 1

severity

protein:decreased expression:blood serum (human)

NCBI chr 1:136,233,093...136,242,888
Ensembl chr 1:140,156,335...140,165,211

G

lysine methyltransferase 2D

severity

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:carotid artery segment (human)

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

nuclear receptor subfamily 1 group H member 3

exacerbates

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

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

proprotein convertase subtilisin/kexin type 5

protein:increased expression:myofibroblast:

NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502

G

phosphatase and actin regulator 1

severity

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

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

retinol binding protein 4

severity

protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

sirtuin 1

mRNA, protein:decreased expression:carotid artery segment

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

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

ClinVar Annotator: match by term: Carotid intimal medial thickness 1

PMID:25741868 PMID:27749844

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

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)

NCBI chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441

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

age-related maculopathy susceptibility 2

ClinVar Annotator: match by term: CARASIL syndrome

PMID:18316707 PMID:20437615 PMID:26467025 PMID:28492532

NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551

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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

purine rich element binding protein A

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

PMID:24500651 PMID:25342064

NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870
Ensembl chr 5:141,659,224...141,727,870

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

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

ATP binding cassette subfamily G member 5

CTD Direct Evidence: marker/mechanism

PMID:11099417 PMID:11138003

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324

G

acetyl-CoA acetyltransferase 2

susceptibility

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

NCBI chr 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606

G

angiotensin I converting enzyme

susceptibility

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

PMID:12975417 PMID:14989558

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

acid phosphatase 1

NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086

G

ADAM metallopeptidase with thrombospondin type 1 motif 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:61,291,451...61,295,148

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)

PMID:17878891 PMID:27218147

RGD:329956419 RGD:5686802

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adrenoceptor beta 3

no_association

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

PMID:9126344 PMID:11229427

RGD:1559325 RGD:5684412

NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949

G

androgen dependent TFPI regulating protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,550,584...11,648,755
Ensembl chr 6:11,829,782...11,895,656

G

advanced glycosylation end-product specific receptor

susceptibility

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

PMID:20668462 PMID:22337222

RGD:6767569 RGD:8695960

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensin II receptor type 1

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

alanine--glyoxylate aminotransferase 2

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

NCBI chr 5:75,322,351...75,373,261
Ensembl chr 5:80,601,554...80,652,575

G

alpha 2-HS glycoprotein

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:SNPs

NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915

G

AKT serine/threonine kinase 1

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

arachidonate 5-lipoxygenase activating protein

DNA:snps:multiple (human)

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

adenosine monophosphate deaminase 1

susceptibility

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

PMID:11028479 PMID:24508110

RGD:329349360 RGD:329412480

NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476

G

angiopoietin like 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148

G

ankyrin repeat and sterile alpha motif domain containing 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:34,450,695...34,653,881
Ensembl chr 6:35,548,124...35,776,185

G

amyloid P component, serum

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,937,472...134,938,512
Ensembl chr 1:138,734,046...138,735,093

G

aph-1 homolog B, gamma-secretase subunit

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

NCBI chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

PMID:2128269 PMID:27135400

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A2

protein:decreased expression:serum

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

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)

PMID:15177130 PMID:15306190 PMID:24097064

RGD:1578412 RGD:2313322

NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286

G

apolipoprotein B

no_association

DNA:SNP:CDS:rs1042031 (human)

PMID:1732399 PMID:9585673 PMID:28167353

RGD:1578417 RGD:1578418 RGD:329901772

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein C3

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-482C>T, in women without Diabetes Mellitus, Type 2 (MeSH:D003924)

PMID:14709372 PMID:15059615 PMID:24097064

RGD:1578443 RGD:1626412

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

apolipoprotein E

susceptibility

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

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

RGD:13703132 RGD:1578449 RGD:1580039 RGD:1626412

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

apolipoprotein M

susceptibility

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

NCBI chr 6:31,313,543...31,319,374
Ensembl chr 6:32,206,514...32,209,249

G

Rho GTPase activating protein 31

susceptibility

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

NCBI chr 3:116,412,238...116,536,900
Ensembl chr 3:123,324,166...123,450,236

G

ATPase plasma membrane Ca2+ transporting 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:87,107,900...87,229,514
Ensembl chr12:90,427,560...90,495,320

G

butyrylcholinesterase

susceptibility

DNA:polymorphism: :p.A539T (human)

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

BMP/retinoic acid inducible neural specific 3

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

NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

butyrophilin like 2

susceptibility

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

NCBI chr 6:32,067,223...32,126,032

G

chromosome 1 C1orf167 homolog

DNA:SNP: :rs56001051(human)

NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155

G

calcium responsive transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028

G

cystathionine beta-synthase

CBS variant c.844ins68

NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932

G

C-C motif chemokine ligand 2

ClinVar Annotator: match by term: Coronary artery disease, modifier of

PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More...

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 26

susceptibility

protein:decreased expression:plasma (human)

NCBI chr 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874

G

C-C motif chemokine receptor 1

NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755

G

C-C motif chemokine receptor 2

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-C motif chemokine receptor 5

mRNA:increased expression:heart (rat)

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

CD14 molecule

no_association

DNA:SNP:promoter

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD36 molecule (CD36 blood group)

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 ligand

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

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

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

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cadherin 5

NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:23104008 PMID:34961328

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

cadherin EGF LAG seven-pass G-type receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,627,551...111,653,775
Ensembl chr 1:110,791,682...110,815,421

G

cholesteryl ester transfer protein

ClinVar Annotator: match by term: Coronary artery disease

PMID:14559957 PMID:17190939 PMID:20068209 PMID:25741868 PMID:28492532

NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103

G

chitinase 3 like 1

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

chloride voltage-gated channel 6

susceptibility

DNA:SNP: :rs3737964(human)

NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505

G

clusterin

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

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

C-reactive protein

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

PMID:19615354 PMID:24868163

NCBI chr 1:135,062,102...135,064,402

G

cystatin C

protein:increased expression:serum (human)

NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425

G

cubilin

susceptibility

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

NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

cytochrome P450 family 27 subfamily A member 1

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

PMID:25741868 PMID:28492532

NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474

G

cytochrome P450 family 2 subfamily R member 1

DNA:SNP:CDS:rs10741657 (human)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

DAB2 interacting protein

onset

DNA:SNP:CDS:rs7025486 (human)

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

dimethylarginine dimethylaminohydrolase 1

DNA:missense mutation:cds:rs997251 (human)

NCBI chr 1:117,875,875...118,136,304

G

DDAH family member 2, ADMA-independent

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,388,401...31,391,637
Ensembl chr 6:32,277,102...32,280,338

G

endothelin converting enzyme 1

protein:increased expression:smooth muscle cell,macrophage

PMID:8994440 PMID:10973835

RGD:1580909 RGD:7244168

NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909

G

endothelin 1

treatment
severity

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

PMID:7968078 PMID:11927217 PMID:18923236

RGD:4144886 RGD:8661705 RGD:8662294

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

endoglin

severity

protein:increased expression:plasma (human)

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

epoxide hydrolase 2

NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:SNP: :rs13181(human)

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

PMID:9396482 PMID:16159931 PMID:20559769

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

PMID:16099331 PMID:20559769

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

coagulation factor II, thrombin

treatment

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor VII

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

PMID:8522401 PMID:10599031 PMID:11334615

RGD:2312397 RGD:2312400 RGD:2312408

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fatty acid binding protein 2

DNA:SNP:CDS:2445G>A, amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) in women

NCBI chr 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461

G

Fc gamma receptor IIIa

susceptibility

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

NCBI chr 1:137,027,943...137,036,738

G

FES proto-oncogene, tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965

G

fibrinogen beta chain

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibroblast growth factor 2

associated with Diabetes Mellitus

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

FTO alpha-ketoglutarate dependent dioxygenase

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

PMID:24622111 PMID:28167353

RGD:329812039 RGD:329901772

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

furin, paired basic amino acid cleaving enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023

G

glucokinase

susceptibility

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

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470

G

Gfo/Idh/MocA-like oxidoreductase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:13,203,295...13,332,651
Ensembl chr 6:13,582,487...13,704,047

G

gamma-glutamyl carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567

G

gap junction protein alpha 4

DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S in men only (p = 0.0047) in a Swiss population
DNA:SNP:CDS:1019C>T, amino acid P319S, in men both with and without Diabetes Mellitus, Type 2 (MeSH:D003924)

PMID:15059615 PMID:16677656

RGD:1626412 RGD:1626615

NCBI chr 1:34,059,901...34,063,181

G

G protein subunit beta 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692

G

glycoprotein VI platelet

treatment

protein:increased expression:platelet (human)

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

glutathione peroxidase 1

DNA:repeat:exon
cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood

PMID:12655278 PMID:16338763

RGD:1600677 RGD:1600708

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione peroxidase 3

mRNA:increased expression:epicardial fat

NCBI chr 5:146,447,939...146,456,476

G

glutathione-disulfide reductase

cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood

NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557

G

glutathione S-transferase mu 1

susceptibility

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

PMID:16620396 PMID:19102712

RGD:2306625 RGD:2306633

Ensembl chr 1:127,979,238...128,010,411

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338

G

HECT domain E3 ubiquitin protein ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:109,756,303...109,978,510
Ensembl chr12:113,151,017...113,311,809

G

homeostatic iron regulator

no_association

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

hepatocyte growth factor

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

HHIP like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,229,854...80,304,418

G

3-hydroxy-3-methylglutaryl-CoA reductase

NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785

G

heme oxygenase 1

no_association
susceptibility

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

PMID:12136229 PMID:12377749 PMID:14691581

RGD:1580454 RGD:1580470 RGD:1598401

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

HNF1 homeobox A

susceptibility

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

PMID:25202455 PMID:28035729 PMID:33004870

RGD:329901832 RGD:329901837 RGD:329901841

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

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 chr 4:5,797,803...5,829,976
Ensembl chr 4:11,108,374...11,109,297

G

hydroxysteroid 11-beta dehydrogenase 1

sexual_dimorphism

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

NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765

G

heat shock protein family D (Hsp60) member 1

severity

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

islet cell autoantigen 1 like

CTD Direct Evidence: marker/mechanism

NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254

G

interleukin 10

no_association
susceptibility

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

PMID:16460885 PMID:29525679

RGD:14975129 RGD:1598621

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 15

associated with Hypertension;protein:increased expression:serum

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 1 beta

mRNA:increased expression:peripheral blood (human)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor like 1

severity

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

G

interleukin 6

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

NCBI chr 7:23,415,922...23,420,767

G

interleukin 1 receptor associated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602

G

insulin receptor substrate 1

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

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

integrin subunit alpha 2

no_association

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

junctional cadherin 5 associated

CTD Direct Evidence: marker/mechanism

NCBI chr10:30,163,932...30,266,266
Ensembl chr10:30,528,772...30,553,865

G

kalirin RhoGEF kinase

severity
onset
susceptibility

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

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

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

NCBI chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441

G

potassium voltage-gated channel subfamily E regulatory subunit 2

CTD Direct Evidence: marker/mechanism

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 chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128

G

kinesin family member 6

no_association
sexual_dimorphism
treatment

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

PMID:18222354 PMID:19371834 PMID:21458191 PMID:25629058 PMID:26443250 More...

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

NCBI chr 6:38,917,083...39,306,190
Ensembl chr 6:40,234,426...40,616,738

G

klotho

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

PMID:12669274 PMID:16579981 PMID:16979405

RGD:1581721 RGD:1581723

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

low density lipoprotein receptor

no_association

CTD Direct Evidence: marker/mechanism

PMID:16459141 PMID:21378990 PMID:27135400

NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791

G

leptin receptor

susceptibility

DNA:missense mutation:CDS:p.Q223R (human)

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipase A, lysosomal acid type

CTD Direct Evidence: marker/mechanism

PMID:21378988 PMID:34961328 PMID:35590109

NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874

G

lipase C, hepatic type

susceptibility
no_association

250G/A
DNA:SNP,haplotypes: (rs17269397)A>G (human)
C514T
associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human)

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

RGD:1600663 RGD:1600664 RGD:2308839 RGD:329901841

NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

G

lipase G, endothelial type

NCBI chr18:42,942,132...42,972,112
Ensembl chr18:46,292,154...46,320,652

G

leiomodin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,493,627...177,543,853
Ensembl chr 1:181,798,304...181,845,295

G

cytochrome b-245 light chain

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

low affinity immunoglobulin gamma Fc region receptor II-a

DNA:polymorphism: :p.H131R (human)

NCBI chr 1:136,892,311...136,906,450

G

chymotrypsin-like elastase family member 2A

ClinVar Annotator: match by term: Coronary artery disease

PMID:25741868 PMID:31358993

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

G

lysyl oxidase

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

lipoprotein(a)

ClinVar Annotator: match by term: LIPOPROTEIN(a) POLYMORPHISM

NCBI chr 6:158,434,394...158,628,028

G

lipoprotein lipase

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Coronary artery disease

NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973

G

LDL receptor related protein 8

no_association
onset

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

PMID:17847002 PMID:18592168

RGD:2306124 RGD:2306125

NCBI chr 1:52,515,534...52,600,390
Ensembl chr 1:54,114,909...54,199,452

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

PMID:15266304 PMID:15973460

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

lumican

NCBI chr12:88,636,825...88,644,665
Ensembl chr12:91,952,277...91,960,388

G

mitogen-activated protein kinase kinase kinase 7

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

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

methionine adenosyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322

G

MIA SH3 domain ER export factor 3

ClinVar Annotator: match by term: Coronary artery disease

NCBI chr 1:198,291,200...198,339,502
Ensembl chr 1:203,304,237...203,354,919

G

MLX interacting protein like

susceptibility

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

PMID:19571538 PMID:21726544 PMID:25179879

RGD:401794579 RGD:401794581 RGD:401794582

Ensembl chr 7:80,745,765...80,776,153

G

matrix metallopeptidase 1

severity

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

PMID:15619398 PMID:17893005

RGD:1582527 RGD:7207049

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 12

susceptibility

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 3

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

PMID:8662692 PMID:16100452 PMID:17893005

RGD:7207049 RGD:8693322

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

treatment
susceptibility

PMID:15191941 PMID:26261622

RGD:11344965 RGD:1582644

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

muscle RAS oncogene homolog

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:35590109

NCBI chr 3:135,377,488...135,435,338
Ensembl chr 3:142,827,020...142,884,582

G

mitochondrial ribosomal protein S6

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:34961328

NCBI chr21:20,441,365...20,510,800
Ensembl chr21:33,862,033...33,879,670

G

methylenetetrahydrofolate reductase

susceptibility
no_association

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

PMID:12387655 PMID:15648053 PMID:24315498

RGD:1580579 RGD:401850782 RGD:6893453

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

myosin regulatory light chain interacting protein

ClinVar Annotator: match by term: Coronary atherosclerosis

NCBI chr 6:15,985,844...16,005,043
Ensembl chr 6:16,350,852...16,370,253

G

myosin light chain kinase

susceptibility

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

NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261

G

nicotinamide phosphoribosyltransferase

NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967

G

N-acetyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

neurobeachin like 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273

G

nerve growth factor

NCBI chr 1:87,223,597...87,276,759

G

nerve growth factor receptor

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

nicotinamide N-methyltransferase

severity

protein:increased expression:blood serum (human)

NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581

G

nucleotide binding oligomerization domain containing 2

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

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

nitric oxide synthase 2

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

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

susceptibility

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

PMID:8564837 PMID:10510054 PMID:14989558 PMID:16284093 PMID:17267746 More...

RGD:7421529 RGD:7771567 RGD:7771578

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

natriuretic peptide A

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

PMID:12514664 PMID:22170009

RGD:1579982 RGD:7247716

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

nuclear receptor subfamily 1 group H member 3

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

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

nuclear receptor subfamily 3 group C member 1

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

NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269

G

8-oxoguanine DNA glycosylase

susceptibility

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

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

oxidized low density lipoprotein receptor 1

severity

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

PMID:12810610 PMID:15562935

RGD:1580994 RGD:1580995

NCBI chr12:10,196,712...10,210,432
Ensembl chr12:10,445,202...10,461,071

G

pappalysin 1

severity

CTD Direct Evidence: marker/mechanism

PMID:11586954 PMID:16055491

NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435

G

presenilin associated rhomboid like

susceptibility

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

NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036

G

proprotein convertase subtilisin/kexin type 9

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:27135400

NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456

G

platelet derived growth factor D

CTD Direct Evidence: marker/mechanism

PMID:21378988 PMID:34961328

NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273

G

platelet and endothelial cell adhesion molecule 1

no_association

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

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

RGD:1581010 RGD:2311656 RGD:6771225

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

platelet factor 4 variant 1

protein:increased expression:plasma

NCBI chr 4:50,341,931...50,343,220
Ensembl chr 4:56,173,293...56,175,607

G

phosphatase and actin regulator 1

susceptibility
sexual_dimorphism

CTD Direct Evidence: marker/mechanism
DNA:SNP:exon: (rs4714955) (human)
DNA:hypermethylation, hypomethylation:promoter, exon: (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)

PMID:21378990 PMID:22751097 PMID:26098115 PMID:27066539 PMID:27517945 More...

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

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

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

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr12:18,258,487...18,644,464
Ensembl chr12:18,664,631...19,030,493

G

phospholipase A2 group VII

disease_progression
susceptibility

DNA:polymorphism: :p.A379V (human)

PMID:15115767 PMID:17070179

RGD:6482777 RGD:6482781

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

phospholipid phosphatase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,779,343...55,862,717
Ensembl chr 1:57,489,178...57,573,398

G

patatin like phospholipase domain containing 3

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

NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003

G

paraoxonase 1

susceptibility

DNA:missense mutation:cds:p.Q192R (human)
ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to

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

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

paraoxonase 2

severity

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

NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433

G

peroxisome proliferator activated receptor alpha

susceptibility

DNA:snp:intron: (human)

Ensembl chr22:45,218,364...45,302,970

G

peroxisome proliferator activated receptor gamma

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

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

protein phosphatase 4 catalytic subunit

mRNA:decreased expression:blood (human)

Ensembl chr16:30,450,467...30,464,446

G

PR/SET domain 16

CTD Direct Evidence: marker/mechanism

NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Coronary artery disease

PMID:25741868 PMID:28492532

NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078

G

protein C receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:31,500,838...31,543,928
Ensembl chr20:32,622,876...32,628,320

G

proline and serine rich coiled-coil 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,657,568...111,661,225
Ensembl chr 1:110,820,918...110,824,522

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

parathyroid hormone

protein:increased expression:serum (human)

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

G

protein tyrosine phosphatase non-receptor type 1

DNA:SNP:exon 8:g.981C>T (human)

NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421

G

protein tyrosine phosphatase non-receptor type 22

DNA: snp: cds: rs2476601

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

protein tyrosine phosphatase receptor type D

DNA:SNP:intron: (rs10115782) (human)

NCBI chr 9:8,113,171...10,420,732
Ensembl chr 9:8,288,569...8,831,227

G

retinol binding protein 4

severity
susceptibility
sexual_dimorphism
disease_progression

associated with hypothyroidism;protein:increased expression:blood serum (human)
DNA:SNP:intron: (rs7094671) (human)
protein:increased expression:blood plasma (human)
protein:increased expression:epicardial fat (human)

PMID:18854400 PMID:21645024 PMID:25437889 PMID:25479076 PMID:31278889

RGD:329845573 RGD:329845584 RGD:329845843 RGD:329845849 RGD:329845882

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

ryanodine receptor 2

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

seryl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704

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:17578587 PMID:25741868

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

selectin P

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family A member 1

protein:increased expression:serum

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family E member 1

susceptibility

DNA:insertion:promoter: (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

serpin family F member 2

NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,977,344...109,024,029

G

solute carrier family 2 member 4

mRNA:decreased expression:epicardial fat, subcutaneous adipose tissue (human)

NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344

G

solute carrier family 5 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:20,441,434...20,474,101
Ensembl chr21:33,831,917...33,834,073

G

SMAD family member 3

ClinVar Annotator: match by term: Coronary artery disease

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

sterol O-acyltransferase 2

susceptibility

DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human)

NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074

G

superoxide dismutase 1

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 3

NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781

G

sortilin 1

CTD Direct Evidence: marker/mechanism

PMID:21378990 PMID:34961328

NCBI chr 1:111,687,119...111,775,339

G

secreted phosphoprotein 1

In type 2 diabetic patients

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

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)

PMID:12752570 PMID:28367087 PMID:31610782

RGD:401827912 RGD:401842364 RGD:401842368

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

G

sterol regulatory element binding transcription factor 2

disease_progression

associated with type 2 diabetes mellitus;mRNA:increased expression:epicardial fat (human)

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189

G

transcription factor 21

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: (rs12190287) (human)

PMID:21378990 PMID:22751097 PMID:26909569

NCBI chr 6:131,656,582...131,662,983
Ensembl chr 6:135,754,896...135,761,294

G

TEK receptor tyrosine kinase

protein:increased expression:plasma

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

Ensembl chr 5:1,300,960...1,338,872

G

thrombomodulin

severity

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

tolloid like 1

severity

associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human)

NCBI chr 4:158,068,424...158,300,856
Ensembl chr 4:170,157,417...170,384,260

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

PMID:15632890 PMID:20524934

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

DNA:SNP:promoter:-863C>A, in men without Diabetes Mellitus, Type 2 (MeSH:D003924)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 11b

protein:increased expression:serum

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

G

TNF receptor superfamily member 1A

severity

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

troponin I3, cardiac type

NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219

G

tumor protein p53

DNA:misssense mutation: :p.R72P (rs1042522) (human)

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TNF receptor associated factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334

G

tribbles pseudokinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,115,194...122,123,319
Ensembl chr 8:124,867,359...124,872,924

G

titin

NCBI chr2B:65,783,512...66,064,618

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,761,041...19,765,665

G

vesicle associated membrane protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,634,555...85,646,120
Ensembl chr2A:87,187,569...87,196,532

G

vesicle associated membrane protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,627,678...85,632,205
Ensembl chr2A:87,180,681...87,185,195

G

vitamin D receptor

severity

DNA:SNP (human)

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:14668888 PMID:15754021 PMID:15937083

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

vimentin

protein:increased expression:monocyte

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

G

vitronectin

NCBI chr17:28,403,813...28,407,202
Ensembl chr17:28,906,508...28,909,583

G

WD repeat domain 12

CTD Direct Evidence: marker/mechanism

NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783

G

WRN RecQ like helicase

NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855

G

X-ray repair cross complementing 1

onset

DNA:polymorphism:: (rs1799782) (human)

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

X-ray repair cross complementing 3

susceptibility

DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human)

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

zinc finger C3HC-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,983,549...122,018,106
Ensembl chr 7:134,502,334...134,536,401

G

zinc finger FYVE-type containing 21

ClinVar Annotator: match by term: Premature coronary artery atherosclerosis

NCBI chr14:84,341,941...84,359,831
Ensembl chr14:104,161,904...104,168,787

G

zinc fingers and homeoboxes 3

ClinVar Annotator: match by term: Coronary atherosclerosis

PMID:25741868 PMID:28492532

NCBI chr20:37,518,569...37,659,417
Ensembl chr20:38,621,651...38,755,797

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

PMID:14645853 PMID:15496429 PMID:15841183

NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092

Coronary Artery Disease, Autosomal Dominant 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2

PMID:17332414 PMID:23703864 PMID:25741868 PMID:28492532

NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973

Coronary Artery Disease, Development of, in HIV

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV

PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More...

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

coronary artery vasospasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 9

ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to

NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064

G

nitric oxide synthase 3

ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to

PMID:9737779 PMID:9894802 PMID:10359729 PMID:10475066 PMID:10510054 More...

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

coronary restenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: therapeutic

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:blood (human)

NCBI chr16:23,436,746...23,438,184
Ensembl chr16:31,897,868...31,899,143

G

butyrylcholinesterase

susceptibility

DNA:polymorphism: :p.A539T (human)

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

cadherin 13

protein:increased expression:artery, smooth muscle cell

NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996

G

C-X-C motif chemokine ligand 10

protein:increased expression:plasma

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine receptor 3

NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756

G

heme oxygenase 1

susceptibility

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

integrin subunit beta 2

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

lysyl oxidase

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

mitogen-activated protein kinase 1

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mannose binding lectin 2

susceptibility

DNA:polymorphisms:5' utr, exon:multiple (human)

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

matrix metallopeptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 7

treatment

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

neuropeptide Y receptor Y5

mRNA, protein:increased expression:carotid artery

NCBI chr 4:155,603,739...155,612,302

G

ornithine decarboxylase antizyme 1

susceptibility

DNA:SNP:intron:c.2222A>G (rs2074458) (human)

NCBI chr19:1,279,139...1,283,079
Ensembl chr19:2,250,678...2,254,179

G

secreted phosphoprotein 1

PMID:12114325 PMID:16373617

RGD:1581358 RGD:1581366

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

uncoupling protein 3

susceptibility

DNA:polymorphism:promoter:-55C>T (human)

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

coronary stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apelin

protein:decreased expression:plasma

NCBI chr X:118,775,509...118,785,224

G

cytochrome P450 family 2 subfamily R member 1

DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

endothelin 1

treatment

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

histamine receptor H2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566

G

insulin like growth factor 1

mRNA:increased expression:myocyte:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

mRNA:increased expression:myocyte:

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

integrin subunit alpha V

NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028

G

LIM and cysteine rich domains 1

protein:increased expression:coronary artery

NCBI chr 3:8,448,143...8,521,214

G

myosin-7

CTD Direct Evidence: marker/mechanism

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

midkine

NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

platelet and endothelial cell adhesion molecule 1

DNA:missense mutations:cds:p.L125V, p.S563N (human)

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

phosphatase and actin regulator 1

susceptibility

DNA:SNP::g.13011943A>G (rs9349379) (human)

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

protein kinase C epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313

G

TNF receptor superfamily member 11b

protein:increased expression:serum

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

coronary thrombosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein VI platelet

DNA:missense mutation:CDS:c.13254T>C (human)

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

integrin subunit beta 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

plasminogen activator, tissue type

CTD Direct Evidence: therapeutic

PMID:1452937 PMID:8172379 PMID:15301905

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

Hypertension Resistant to Conventional Therapy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion:cds: (human)

Ensembl chr 1:127,979,238...128,010,411

G

nitric oxide synthase 3

ClinVar Annotator: match by term: Hypertension resistant to conventional therapy

PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More...

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

protein tyrosine phosphatase receptor type D

susceptibility

associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)

NCBI chr 9:8,113,171...10,420,732
Ensembl chr 9:8,288,569...8,831,227

intermediate coronary syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

mRNA:increased expression:ventricular myocardium (human)
mRNA:increased expression:myocardium

PMID:11451295 PMID:15131005

RGD:8142363 RGD:8548894

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensinogen

mRNA:increased expression:myocardium

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

mRNA:increased expression:myocardium

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:platelet

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

apolipoprotein A4

protein:decreased expression:blood plasma (human)

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

brain derived neurotrophic factor

NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239

G

C-reactive protein

disease_progression

NCBI chr 1:135,062,102...135,064,402

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

endothelin 1

associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

coagulation factor VII

protein:increased expression:plasma (human)

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

3-hydroxy-3-methylglutaryl-CoA reductase

NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785

G

integrin subunit alpha 2

susceptibility

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha M

ameliorates

protein:decreased expression:neutrophil (human)

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

inter-alpha-trypsin inhibitor heavy chain 4

NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038

G

matrix metallopeptidase 1

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

pappalysin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

phosphatase and tensin homolog

RNA:increased expression:serum

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

selectin P

protein:increased expression:serum

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family C member 1

treatment

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

superoxide dismutase 3

NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781

G

thioredoxin

NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311

intermittent claudication

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine--glyoxylate aminotransferase 2

associated with type 2 diabetes mellitus;DNA:SNP:cds:rs2830 (human)

NCBI chr 5:75,322,351...75,373,261
Ensembl chr 5:80,601,554...80,652,575

G

BCL2 associated agonist of cell death

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

BCL2 antagonist/killer 1

NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211

G

BCL2 associated X, apoptosis regulator

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 binding component 3

NCBI chr19:44,203,517...44,215,860

G

caspase 3

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

endothelial PAS domain protein 1

treatment

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

MDM2 proto-oncogene

treatment

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

sirtuin 2

associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord

NCBI chr19:35,984,453...36,005,582
Ensembl chr19:44,533,965...44,554,799

Medial Coronary Sclerosis of Infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy

PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

Multi-Infarct Dementia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein

protein:decreased expression:cerebrospinal fluid:

NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

treatment

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

glucose-6-phosphate dehydrogenase

treatment

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

interleukin 2

severity

protein:increased secretion:mononuclear cell:

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

myocardial infarction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Myocardial infarction

PMID:16563363 PMID:18239147 PMID:20474083 PMID:21846889 PMID:23739550 More...

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

angiotensin I converting enzyme

treatment
susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)

PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More...

RGD:1558664 RGD:7829785 RGD:9685449

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensin converting enzyme 2

treatment

mRNA:increased expression:myocardium

PMID:15671045 PMID:23959549

RGD:1558664 RGD:9685449

NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

activin A receptor type 2A

mRNA:decreased expression:myocardium (mouse)

NCBI chr2B:11,933,683...12,020,287
Ensembl chr2B:152,253,826...152,288,385

G

activin A receptor type 2B

mRNA:decreased expression:myocardium (mouse)

NCBI chr 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063

G

ADAM metallopeptidase with thrombospondin type 1 motif 1

NCBI chr21:13,270,668...13,279,217
Ensembl chr21:26,656,370...26,665,485

G

adducin 1

no_association

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

PMID:16420563 PMID:17082469

RGD:5147995 RGD:5148001

NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

adiponectin, C1Q and collagen domain containing

disease_progression

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adiponectin receptor 1

mRNA, protein:decreased expression:heart left ventricle

NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782

G

adiponectin receptor 2

mRNA, protein:decreased expression:heart left ventricle

NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251

G

adenosine A1 receptor

CTD Direct Evidence: therapeutic

NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760

G

adrenoceptor alpha 2B

NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472

G

adrenoceptor beta 1

NCBI chr10:110,642,491...110,646,595

G

adrenoceptor beta 2

susceptibility

mRNA:decreased expression:heart
DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I

PMID:12400771 PMID:15520258

RGD:1601126 RGD:8548519

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

advanced glycosylation end-product specific receptor

susceptibility

mRNA:increased expression:left ventricle myocardium (rat)
DNA:polymorphism:promoter:-429T>C (human)

PMID:16728681 PMID:19910580

RGD:1625333 RGD:2325647

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensinogen

susceptibility

associated with hypertension;DNA:polymorphism: :p.M235T
CTD Direct Evidence: marker/mechanism
associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human)

PMID:1668233 PMID:11393670 PMID:16413583 PMID:17299437 PMID:21167013

RGD:1566452 RGD:1601132 RGD:5129191

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

no_association
susceptibility

DNA:polymorphism:3' utr:1166A>C (human)

PMID:9652322 PMID:9857918 PMID:16061119

RGD:10047101 RGD:1566499 RGD:1601150

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

alpha 2-HS glycoprotein

protein:increased expression:plasma

NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915

G

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

NCBI chr 4:98,796,320...98,830,095
Ensembl chr 4:109,404,352...109,436,566

G

adenylate kinase 1

treatment

NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245

G

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:platelet
protein:decreased serine phosphorylation:heart

PMID:20352476 PMID:20467748

RGD:10041035 RGD:5509094

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

aldehyde dehydrogenase 2 family member

DNA:missense mutation: :p.E487K (human)

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

G

arachidonate 5-lipoxygenase activating protein

no_association

DNA:snps:multiple (human)

PMID:14770184 PMID:19046748

RGD:1578317 RGD:2313891

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

angiogenin

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

G

angiopoietin 1

mRNA, protein:decreased expression:myocardium

NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783

G

angiopoietin 2

protein:increased expression:left ventricular wall, heart septum (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

annexin A5

no_association
susceptibility

DNA:polymorphism: :-1C>T (human)
protein:altered localization:cardiac muscle cell, sarcolemma
protein:increased expression:plasma

PMID:8814351 PMID:12200370 PMID:16025836 PMID:16501019

RGD:1578384 RGD:2317541 RGD:2317542 RGD:2317543

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apurinic/apyrimidinic endodeoxyribonuclease 1

susceptibility

DNA:polymorphism:exon 5: G>A (human)

NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542

G

apolipoprotein A1

no_association

DNA:polymorphisms

PMID:10428310 PMID:20176799

RGD:1578442 RGD:2325759

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A4

no_association
susceptibility

DNA:mutation:intron:IVS2 (human)
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human)

PMID:7958503 PMID:10428310

RGD:1578442 RGD:5685678

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

apolipoprotein C3

no_association

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

apolipoprotein E

susceptibility

DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
CTD Direct Evidence: marker/mechanism

PMID:10090925 PMID:10587578 PMID:17217375

RGD:10449412 RGD:1601229

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

apolipoprotein H

PMID:12826288 PMID:15322656

RGD:10054111 RGD:2313985

NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483

G

autophagy related 7

mRNA:increased expression:plantaris

NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase Na+/K+ transporting subunit alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099

G

ATP synthase F1 subunit delta

treatment

protein:decreased expression:myocardium (rat)

PMID:23809007 PMID:29300489

RGD:13792656 RGD:13792681

G

ATP synthase peripheral stalk subunit OSCP

treatment

NCBI chr21:20,270,442...20,282,865

G

arginine vasopressin receptor 1A

NCBI chr12:25,793,633...25,803,026
Ensembl chr12:26,065,882...26,075,972

G

BCL2 antagonist/killer 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211

G

BCL2 associated X, apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:20079142 PMID:25450231

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:17467744 PMID:20079142

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

bradykinin receptor B1

mRNA:increased expression:heart

NCBI chr14:76,885,923...76,894,456

G

bradykinin receptor B2

mRNA:increased expression:heart

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

beclin 1

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

baculoviral IAP repeat containing 5

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

BCL2 interacting protein 3

mRNA:increased expression:plantaris

NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634

G

BRCA1 associated protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:109,216,171...109,263,160
Ensembl chr12:112,610,179...112,654,017

G

BMP/retinoic acid inducible neural specific 3

susceptibility

DNA:SNPs:3' end:

NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

complement C3

mRNA, protein:increased expression:myocardium

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C7

Protein:increased activity:serum, myocardium

NCBI chr 5:69,405,041...69,478,445
Ensembl chr 5:74,447,559...74,520,649

G

complement C8 alpha chain

NCBI chr 1:56,137,596...56,201,975
Ensembl chr 1:57,847,726...57,912,392

G

complement C8 beta chain

NCBI chr 1:56,213,618...56,250,488
Ensembl chr 1:57,923,720...57,960,674

G

calcyclin binding protein

mRNA:increased expression:heart

NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583

G

calcium/calmodulin dependent protein kinase II delta

treatment

mRNA, protein:splice variants, increased expression:heart left ventricle (rat)

NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387

G

caspase 1

severity
ameliorates

PMID:17303764 PMID:33389498

RGD:2315913 RGD:242905187

NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149

G

caspase 3

ameliorates
treatment

CTD Direct Evidence: marker/mechanism

PMID:25450231 PMID:27904666 PMID:28622474

RGD:13782309 RGD:329333030

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

calcium sensing receptor

protein:increased expression:myocardium (rat)

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

G

catalase

CTD Direct Evidence: therapeutic

PMID:14575298 PMID:21600015

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

caveolin 3

Protein:increased expression:cytosol
mRNA, protein; increased expression; myocardium (rat)

PMID:12566108 PMID:29438664

RGD:126925221 RGD:1599542

NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942

G

C-C motif chemokine ligand 2

treatment

protein:increased expression:serum
DNA:snp:promoter:g.-2518A>G (human)

PMID:16116069 PMID:18459941 PMID:18753699

RGD:1581161 RGD:2307033 RGD:8549616

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

mRNA:increased expression:heart (rat)

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cellular communication network factor 1

mRNA,protein:increased expression:myocardium (mouse)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

cellular communication network factor 2

treatment

mRNA:increased expression:left ventricle (rat)

PMID:18167060 PMID:29849775

RGD:2314623 RGD:35673318

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

cyclin A2

protein:increased expression:cardiomyocyte:

NCBI chr 4:114,016,917...114,024,816
Ensembl chr 4:125,153,810...125,161,302

G

C-C motif chemokine receptor 2

PMID:12719858 PMID:12853162

RGD:1581174 RGD:1581177

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-C motif chemokine receptor 3

NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630

G

chaperonin containing TCP1 subunit 7

ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515

G

CD14 molecule

no_association

associated with Coronary Artery Disease;DNA:SNP:promoter

PMID:10195920 PMID:14587643 PMID:17436151

RGD:1580252 RGD:1580255 RGD:2314155

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD36 molecule (CD36 blood group)

severity

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 ligand

protein:increased expression:serum

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD59 molecule (CD59 blood group)

protein:decreased expression:myocardium

NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157

G

cyclin dependent kinase inhibitor 1B

treatment

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

cofilin 1

treatment

NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806

G

CF transmembrane conductance regulator

associated with Myocardial Reperfusion Injury

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

chitinase 3 like 1

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

class II major histocompatibility complex transactivator

susceptibility
no_association

DNA:polymorphism:promoter:-168A>G

PMID:15821736 PMID:17183695

RGD:1358146 RGD:5491201

NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485

G

creatine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr14:84,145,931...84,149,093

G

creatine kinase, M-type

CTD Direct Evidence: marker/mechanism

PMID:3279722 PMID:12359538

NCBI chr19:42,255,158...42,271,467
Ensembl chr19:50,854,556...50,870,366

G

clusterin

treatment

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

collagen type I alpha 1 chain

treatment

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type III alpha 1 chain

treatment

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

collagen type IV alpha 1 chain

susceptibility

DNA:polymorphism: :p.Q1334H (human)

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type VI alpha 3 chain

DNA:SNP:CDS:E1386K (rs146092501) (human)

NCBI chr2B:124,554,478...124,644,482

G

cAMP responsive element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130

G

cAMP responsive element modulator

CTD Direct Evidence: marker/mechanism

NCBI chr10:35,247,426...35,335,545
Ensembl chr10:35,825,218...35,912,432

G

C-reactive protein

protein:increased expression:serum
associated with Angina, Unstable;

PMID:9761079 PMID:21046814 PMID:22446866

RGD:5131456 RGD:6482304 RGD:9491780

NCBI chr 1:135,062,102...135,064,402

G

citrate synthase

severity

protein:decreased expression:diaphragm, mitochondrion

PMID:1877670 PMID:34416105

RGD:243048469 RGD:243048471

NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854

G

colony stimulating factor 2

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

colony stimulating factor 3

treatment

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

casein kinase 2 alpha 1

NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126

G

casein kinase 2 beta

NCBI chr 6:31,327,250...31,331,250

G

cytotoxic T-lymphocyte associated protein 4

DNA:SNP:CDS:49A>G (human)

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

cathepsin B

protein:increased activity:serum, heart (rat)

NCBI chr 8:7,333,498...7,359,264

G

C-X-C motif chemokine ligand 12

mRNA:increased expression:heart left ventricle

PMID:11820456 PMID:19187644

RGD:2306567 RGD:632503

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

cytochrome P450 family 11 subfamily B member 1

NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654

G

cytochrome P450 family 1 subfamily B member 1

ameliorates

NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824

G

cytochrome P450 family 2 subfamily J member 2

susceptibility

DNA:polymorphism

NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810

G

cytochrome P450 family 2 subfamily R member 1

DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

DAB adaptor protein 2

protein:increased expression:cardiomyocyte

PMID:20666606 PMID:21762377

RGD:7243156 RGD:7243158

NCBI chr 5:70,951,198...71,004,836
Ensembl chr 5:76,022,143...76,041,443

G

DAB2 interacting protein

onset

CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:intron 1 (rs7025486) (human)

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

dystroglycan 1

treatment

NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852

G

decorin

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

G

DNA damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701

G

diacylglycerol kinase zeta

CTD Direct Evidence: therapeutic

NCBI chr11:46,291,592...46,339,127
Ensembl chr11:46,841,605...46,889,763

G

dishevelled segment polarity protein 1

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

dual specificity tyrosine phosphorylation regulated kinase 1A

treatment

associated with heart failure; protein:increased expression, increased activity:heart left ventricle (rat)

NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987

G

endothelin converting enzyme 1

NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909

G

endothelin 1

severity

mRNA:increased expression:heart left ventricle (rat)
protein:increased secretion:plasma (human)

PMID:10573185 PMID:17893002

RGD:1580921 RGD:4144880

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

endothelin 2

NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721

G

endothelin receptor type A

NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497

G

endothelin receptor type B

NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286

G

egl-9 family hypoxia inducible factor 1

NCBI chr 1:206,915,541...206,976,656

G

egl-9 family hypoxia inducible factor 3

NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241

G

endothelial PAS domain protein 1

PMID:15247145 PMID:18484163

RGD:1580977 RGD:5147886

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

EPH receptor B1

ameliorates

NCBI chr 3:131,841,459...132,309,082
Ensembl chr 3:139,313,387...139,776,802

G

epoxide hydrolase 2

NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749

G

erythropoietin

treatment

CTD Direct Evidence: marker/mechanism

PMID:19337937 PMID:21415704

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erythropoietin receptor

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

estrogen receptor 1

susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

PMID:11894143 PMID:11919305 PMID:14600184 PMID:15133719 PMID:25741868

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

coagulation factor X

ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to

PMID:10984565 PMID:12181036 PMID:25741868

NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660

G

coagulation factor XII

susceptibility

DNA:polymorphism:promoter:-46C>T(human)

NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485

G

coagulation factor XIII A chain

ClinVar Annotator: match by term: Myocardial infarction, protection against

PMID:8025280 PMID:9459313 PMID:9550516 PMID:10365735 PMID:10910914 More...

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

G

coagulation factor II, thrombin

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism::20210G>A(human)

PMID:9292507 PMID:9531249 PMID:10027711 PMID:12480694

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor III, tissue factor

treatment

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

coagulation factor V

no_association
susceptibility

DNA:mutation:cds:1691G>A (human)
CTD Direct Evidence: marker/mechanism

PMID:9531249 PMID:10590188 PMID:15131548

RGD:11564335 RGD:11564337

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

coagulation factor VII

susceptibility

ClinVar Annotator: match by term: F7-related condition | ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7981691 More...

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fatty acid binding protein 3

NCBI chr 1:30,640,595...30,653,450
Ensembl chr 1:31,665,270...31,673,689

G

fibrinogen beta chain

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibroblast growth factor 1

treatment

NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001

G

fibroblast growth factor receptor 1

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fibroblast growth factor receptor 2

ameliorates

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fission, mitochondrial 1

protein:increased expression:plantaris (rat)

NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683

G

fms related receptor tyrosine kinase 1

NCBI chr13:9,584,850...9,779,542

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr19:46,486,169...46,499,008

G

fibronectin 1

protein:decreased expression:heart

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

FTO alpha-ketoglutarate dependent dioxygenase

treatment

DNA:SNP: :rs17817449 (human)
associated with type 2 diabetes mellitus;DNA:SNP:intron:rs9939609 (human)
mRNA, protein:decreased expression:heart

PMID:20031593 PMID:26772723 PMID:29997116

RGD:11555187 RGD:329812009 RGD:329901766

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

frizzled class receptor 2

mRNA:increased expression:heart left ventricle

NCBI chr17:12,839,362...12,843,803

G

glucose-6-phosphate dehydrogenase

treatment

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

GATA binding protein 4

treatment

CTD Direct Evidence: therapeutic

PMID:20200331 PMID:23948075

NCBI chr 8:7,442,921...7,526,731

G

glycine amidinotransferase

NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209

G

GTP cyclohydrolase 1

treatment

PMID:26192027 PMID:32782412

RGD:329961570 RGD:329970290

NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393

G

glutamate-cysteine ligase catalytic subunit

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994

G

glutamate-cysteine ligase modifier subunit

susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

PMID:12081989 PMID:12975258

NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893

G

gamma-glutamyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:5,424,334...5,469,705

G

growth hormone releasing hormone

treatment

NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240

G

gap junction protein alpha 1

treatment

protein:decreased phosphorylation

PMID:22841862 PMID:22969867 PMID:29428663

RGD:13592597 RGD:7207261 RGD:7207262

NCBI chr 6:119,213,513...119,227,617

G

gap junction protein alpha 4

DNA:SNP:CDS:T allele of 1019C>T in Japanese men (p<0.001)
associated with coronary artery disease; DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S (p = 0.0026) in a Swiss population

PMID:12477941 PMID:15982495 PMID:16677656

RGD:1580400 RGD:1626615 RGD:1626626

NCBI chr 1:34,059,901...34,063,181

G

gap junction protein alpha 5

treatment

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

glycoprotein Ib platelet subunit alpha

NCBI chr17:4,980,083...4,983,219

G

glycoprotein VI platelet

susceptibility
treatment
sexual_dimorphism
no_association
onset

DNA:SNP, missense mutation:promoter, CDS:c.-148C>T, c.13254T>C (p.S219P) (human)
human protein in a mouse model
DNA:missense mutation:CDS:c.13254T>C (p.S219P) (human)
DNA:missense mutation:CDS:c.13254T>C (p.S219P) (rs1613662) (human)
DNA:missense mutation:exon 7:c.645213C>T (p.T249A) (human)

PMID:11571236 PMID:12417295 PMID:20723028 PMID:22814400

RGD:401793749 RGD:401793754 RGD:401794407 RGD:401824647

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

glutamic--pyruvic transaminase

treatment

Ensembl chr 8:144,259,991...144,263,737

G

glutathione peroxidase 1

susceptibility

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glycogen synthase kinase 3 beta

treatment

CTD Direct Evidence: marker/mechanism

PMID:16565311 PMID:16716347

NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771

G

gelsolin

ameliorates

protein:decreased expression:blood serum (human)

PMID:9142022 PMID:28622474

RGD:329333022 RGD:329333030

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

glutathione-disulfide reductase

treatment

NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557

G

guanylate cyclase 1 soluble subunit alpha 1

ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338

G

hydroxyacyl-CoA dehydrogenase

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

hepcidin antimicrobial peptide

mRNA:increased expression:heart

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

homeostatic iron regulator

no_association
susceptibility

PMID:10491370 PMID:12850485

RGD:1582672 RGD:1582697

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

hepatocyte growth factor

treatment

protein:increased expression:serum:

PMID:12419930 PMID:16570015

RGD:8548609 RGD:8548632

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

ameliorates
treatment

mRNA:increased expression:heart left ventricle
human gene in a rat model

PMID:15247145 PMID:15999059 PMID:18484163 PMID:28622474

RGD:1580977 RGD:329333030 RGD:5147886 RGD:9068466

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

high mobility group box 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:21113057 PMID:23188125

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

heme oxygenase 1

PMID:12392996 PMID:20925964

RGD:1598393 RGD:4145134

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

hydroxysteroid 11-beta dehydrogenase 1

ameliorates

PMID:26465199 PMID:28522730

RGD:11087531 RGD:329902054

NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765

G

hydroxysteroid 11-beta dehydrogenase 2

mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism

NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

heat shock protein family D (Hsp60) member 1

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

intercellular adhesion molecule 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:10070497 PMID:23139358

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

insulin like growth factor 1

severity

mRNA, protein:increased expression:myocardium

PMID:16635594 PMID:19295919

RGD:1598421 RGD:2306696

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

mRNA,protein:increased expression:myocyte:

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 10

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:15466015 PMID:15883752 PMID:16310260

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

mRNA, protein:increased expression:heart left ventricle (rat)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

ameliorates

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 18 binding protein

NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511

G

interleukin 1 beta

ameliorates

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)

PMID:11743230 PMID:15883752 PMID:16310260 PMID:23143013 PMID:23237935 More...

RGD:242905187 RGD:7175553 RGD:7204425

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic

PMID:18474815 PMID:19005744

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 4 receptor

mRNA:increased expression:heart

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:15883752 PMID:16310260

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

inhibin subunit beta A

mRNA:increased expression:heart (rat)
mRNA:increased expression:myocardium (mouse)

PMID:14993131 PMID:32427381

RGD:1580888 RGD:329849118

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

inhibin subunit beta B

mRNA:increased expression:myocardium (mouse)

NCBI chr2B:7,278,944...7,284,632

G

ISL LIM homeobox 1

ameliorates

PMID:22727192 PMID:29482621

RGD:243048463 RGD:243048464

NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674

G

integrin subunit alpha 2

no_association
susceptibility

PMID:10194421 PMID:15227729 PMID:16697311

RGD:1581029 RGD:1582294 RGD:1582296

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 3

protein:increased expression:myocardium (rat)

NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245

G

integrin subunit alpha M

treatment

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

integrin subunit beta 1

treatment

NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031

G

integrin subunit beta 3

no_association
susceptibility

DNA:polymorphism:exon:
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

RGD
OMIM
ClinVar

PMID:2014236 PMID:7570918 PMID:8598867 PMID:8667943 PMID:8838346 More...

RGD:5128481 RGD:5128498

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

inter-alpha-trypsin inhibitor heavy chain 4

NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038

G

Janus kinase 2

susceptibility

associated with Myocardial Reperfusion Injury

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

potassium inwardly rectifying channel subfamily J member 2

treatment

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium two pore domain channel subfamily K member 2

mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat)

NCBI chr 1:190,576,180...190,807,367
Ensembl chr 1:195,430,994...195,662,840

G

potassium calcium-activated channel subfamily N member 4

susceptibility

DNA:SNPs,haplotypes:introns:multiple

NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900

G

lysine demethylase 5B

ameliorates

NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994

G

lysine demethylase 6A

mRNA:increased expression:myocardium (rat)

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

kinase insert domain receptor

treatment

PMID:16698275 PMID:25936512

RGD:126925214 RGD:1581717

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

kinesin family member 6

treatment
no_association

CTD Direct Evidence: marker/mechanism
DNA:SNP: :p.W719R (rs20455) (human)
DNA:SNP: :rs20455 (human)

PMID:18222354 PMID:19371834 PMID:20403483 PMID:20927332 PMID:21943003 More...

RGD:11097528 RGD:243048446 RGD:243048447 RGD:243048449 RGD:243048450

NCBI chr 6:38,917,083...39,306,190
Ensembl chr 6:40,234,426...40,616,738

G

KLF transcription factor 13

CTD Direct Evidence: marker/mechanism

NCBI chr15:9,818,294...9,964,912

G

kallikrein 1

CTD Direct Evidence: therapeutic

PMID:12411458 PMID:17022964

NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216

G

lysosomal associated membrane protein 2

mRNA:increased expression:plantaris

NCBI chr X:109,700,185...109,743,579
Ensembl chr X:119,886,982...119,929,896

G

lecithin-cholesterol acyltransferase

NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127

G

lipocalin 2

ameliorates

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

lactate dehydrogenase A

CTD Direct Evidence: marker/mechanism

NCBI chr11:18,432,347...18,445,694
Ensembl chr11:18,115,250...18,128,400

G

galectin 2

susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

NCBI chr22:18,488,257...18,498,401
Ensembl chr22:36,320,775...36,330,281

G

galectin 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412

G

lipase G, endothelial type

susceptibility

DNA:polymorphism: :584C>T (human)

NCBI chr18:42,942,132...42,972,112
Ensembl chr18:46,292,154...46,320,652

G

left-right determination factor 1

ameliorates

NCBI chr 1:201,347,411...201,351,295
Ensembl chr 1:206,348,419...206,350,787

G

somatotropin

treatment

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

interferon alpha-2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

myosin-7

CTD Direct Evidence: marker/mechanism

PMID:11743230 PMID:15090263

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

adenosine receptor A3

CTD Direct Evidence: therapeutic

PMID:12160945 PMID:20132822

NCBI chr 1:114,144,642...114,225,407
Ensembl chr 1:126,122,352...126,202,396

G

cytochrome b-245 heavy chain

mRNA:increase expression:ventricle myocardium

NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183

G

cytochrome b-245 light chain

mRNA:increased expression:myocardium
mRNA:increase expression:ventricle myocardium:

PMID:11243862 PMID:18762777

RGD:1599690 RGD:2317860

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

lysyl oxidase

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

lipoprotein(a)

DNA:SNP:CDS:rs3798220, g.160961137T>C, p.Ile1891Met

NCBI chr 6:158,434,394...158,628,028

G

lipoprotein lipase

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human)

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

LDL receptor related protein 1

susceptibility

NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979

G

LDL receptor related protein 8

susceptibility
onset
no_association

ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
DNA:missense mutation:cds:p.R952Q (human)

OMIM
ClinVar
RGD

PMID:17847002 PMID:18592168

RGD:2306124 RGD:2306125

NCBI chr 1:52,515,534...52,600,390
Ensembl chr 1:54,114,909...54,199,452

G

LDL receptor related protein associated protein 1

susceptibility

NCBI chr 4:3,663,649...3,683,450
Ensembl chr 4:3,646,179...3,666,098

G

lymphotoxin alpha

susceptibility
severity
no_association

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
DNA:SNP:exon:804C>A (p.T26N) (human)

OMIM
ClinVar
RGD

PMID:12426569 PMID:12746914 PMID:14681301 PMID:15175864 PMID:15266304 More...

RGD:1581940 RGD:8548841

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411

G

mitogen-activated protein kinase kinase kinase 5

treatment

NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727

G

mitogen-activated protein kinase kinase kinase 7

treatment

mRNA, protein:increased expression:myocardium (rat)

PMID:16183734 PMID:27121011

RGD:11073666 RGD:2298758

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

mitogen-activated protein kinase 1

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mitogen-activated protein kinase 14

ameliorates

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

G

mitogen-activated protein kinase 8

ameliorates

NCBI chr10:45,806,748...45,936,362

G

malate dehydrogenase 2

NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526

G

midkine

NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254

G

myocyte enhancer factor 2C

treatment

NCBI chr 5:26,480,489...26,650,813
Ensembl chr 5:26,681,700...26,786,426

G

mesenchyme homeobox 2

protein:decreased expression:heart (rat)

NCBI chr 7:16,268,225...16,343,914
Ensembl chr 7:15,598,466...15,673,935

G

mesoderm posterior bHLH transcription factor 1

treatment

human gene and cell line in a rat model

NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210

G

mitochondrial fission factor

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr2B:114,569,893...114,602,158
Ensembl chr2B:233,381,466...233,413,778

G

mitofusin 2

treatment

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

G

matrix Gla protein

susceptibility

NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523

G

MIA SH3 domain ER export factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,291,200...198,339,502
Ensembl chr 1:203,304,237...203,354,919

G

macrophage migration inhibitory factor

protein:increased expression:plasma
mRNA, protein:increased expression:myocardium

PMID:11589847 PMID:12704210

RGD:1642003 RGD:1642008

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

MLX interacting protein like

susceptibility

DNA:SNP:cd: C771G, p.Q241H (rs3812316) (human)

Ensembl chr 7:80,745,765...80,776,153

G

matrix metallopeptidase 1

susceptibility

protein:increased expression, increased activity:heart left ventricle (rat)
associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human)
human gene in rat model

PMID:8531210 PMID:11179039 PMID:15009768 PMID:16210545 PMID:19797822

RGD:1582520 RGD:1582535 RGD:7207135 RGD:7207136 RGD:7207198

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 13

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

G

matrix metallopeptidase 14

PMID:10773235 PMID:16461815

RGD:1582569 RGD:1582587

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:10773235 PMID:11179039 PMID:16310260 PMID:24358288

RGD:1582587 RGD:7207136

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 3

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 7

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

matrix metallopeptidase 9

susceptibility

protein:increased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism
protein:increased expression, increased activity:heart left ventricle (rat)
DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) (human)
protein:increased expression:coronary artery, plasma (human)

PMID:8531210 PMID:14729404 PMID:15118287 PMID:16310260 PMID:16845718 More...

RGD:13204799 RGD:1582639 RGD:1582645 RGD:1582653 RGD:7207049 RGD:7207198

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

myostatin

mRNA:decreased expression:myocardium (mouse)

NCBI chr2B:77,364,927...77,452,426
Ensembl chr2B:195,283,903...195,290,922

G

methylenetetrahydrofolate reductase

susceptibility

DNA:SNP: :677C>T (human)
associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human)

PMID:10090925 PMID:19272686

RGD:10449412 RGD:6893548

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

treatment

protein:decreased serine phosphorylation:heart
associated with Diabetes Mellitus, Experimental

PMID:20352476 PMID:23773982

RGD:10041035 RGD:10041040

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

myosin heavy chain 6

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

neural cell adhesion molecule 1

mRNA, protein:increased expression:heart
protein:alternative form, increased expression:myocardium

PMID:19853610 PMID:23462508

RGD:2325979 RGD:40924663

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

NADH:ubiquinone oxidoreductase subunit B5

treatment

NCBI chr 3:176,636,937...176,659,813
Ensembl chr 3:184,807,246...184,827,011

G

NFE2 like bZIP transcription factor 2

treatment

PMID:23290949 PMID:24915518

RGD:10412734 RGD:10412738

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

NFKB inhibitor alpha

treatment

NCBI chr14:16,155,331...16,158,588

G

nerve growth factor

treatment

protein:increased expression:myocardium

NCBI chr 1:87,223,597...87,276,759

G

nemo like kinase

mRNA, protein:decreased expression:heart

NCBI chr17:28,586,894...28,740,252

G

NLR family pyrin domain containing 3

ameliorates

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

non-POU domain containing octamer binding

ameliorates

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

nitric oxide synthase 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:10090345 PMID:11489778 PMID:26192027

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

susceptibility
treatment

protein:decreased expression:aorta (rat)
DNA:repeats:intron
human gene in rat model
DNA:duplication:intron:IVS4?-?+27 (human)
CTD Direct Evidence: marker/mechanism

PMID:10510054 PMID:10531147 PMID:11903359 PMID:12362496 PMID:16337503 More...

RGD:13450930 RGD:13503346 RGD:1580283 RGD:1580284 RGD:5128481 RGD:7771561 RGD:7771563

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

nucleophosmin 1

protein:increased expression:cardiomyocyte:

NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism|therapeutic
DNA:snp:cds:c.2238T>C (human)

PMID:9527094 PMID:11743230 PMID:12514664 PMID:16087130

RGD:1579982 RGD:1580000

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

natriuretic peptide B

PMID:17256064 PMID:17639095 PMID:19858735

RGD:1642266 RGD:2324680 RGD:7247724

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

natriuretic peptide receptor 1

susceptibility

DNA:missense mutation:cds:p.M341I (human)

NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327

G

nuclear receptor subfamily 1 group H member 3

susceptibility

DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

nuclear receptor subfamily 3 group C member 2

CTD Direct Evidence: marker/mechanism

PMID:16413583 PMID:17587755

NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298

G

neuregulin 1

treatment

PMID:24200746 PMID:27993643

RGD:10449026 RGD:405145704

NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977

G

nuclear receptor interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673

G

oxidized low density lipoprotein receptor 1

susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

PMID:12646194 PMID:12810610 PMID:14684693 PMID:25741868

NCBI chr12:10,196,712...10,210,432
Ensembl chr12:10,445,202...10,461,071

G

OPA1 mitochondrial dynamin like GTPase

treatment

NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358

G

opioid receptor delta 1

PMID:12798419 PMID:15076225

RGD:2316587 RGD:9831425

NCBI chr 1:28,068,053...28,143,053
Ensembl chr 1:29,112,152...29,163,464

G

opioid receptor kappa 1

NCBI chr 8:49,650,844...49,677,494
Ensembl chr 8:47,029,313...47,056,577

G

purinergic receptor P2Y12

CTD Direct Evidence: marker/mechanism

NCBI chr 3:148,364,151...148,412,231

G

pappalysin 1

susceptibility

DNA:polymorphism:intron
CTD Direct Evidence: marker/mechanism

PMID:11586954 PMID:17700210

NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435

G

poly(ADP-ribose) polymerase 1

protein:altered processing:left ventricle (mouse)

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

proprotein convertase subtilisin/kexin type 2

DNA:SNP:intron: (rs6080699) (human)

NCBI chr20:17,184,878...17,443,355
Ensembl chr20:17,163,675...17,421,157

G

phosphodiesterase 3A

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,380,213...20,690,540
Ensembl chr12:20,763,999...21,064,391

G

phosphodiesterase 5A

NCBI chr 4:111,682,772...111,817,234
Ensembl chr 4:122,832,175...122,966,636

G

platelet derived growth factor D

mRNA,protein:altered expression:myocardium:

NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273

G

phosphatidylethanolamine binding protein 1

protein:decreased expression:right heart ventricle, ventricular septum

NCBI chr12:115,716,953...115,726,412
Ensembl chr12:119,093,952...119,105,054

G

platelet and endothelial cell adhesion molecule 1

onset
no_association

DNA:missense mutation:cds:p.R643G (human)
DNA:polymorphisms: :p.N563S, p.G670R (human)
DNA:missense mutations:cds:p.L125V, p.S563N (human)

PMID:11795274 PMID:15265022 PMID:15488875

RGD:1581009 RGD:2311656 RGD:6771224

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

placental growth factor

PMID:20649603 PMID:21329947 PMID:22114497

RGD:6483584 RGD:6483773 RGD:6483777

NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964

G

phosphatase and actin regulator 1

susceptibility
severity
no_association

CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs9369640) (human)
DNA:SNPs:multiple (human)
DNA:SNP:intron:(rs12526453) (human)
mRNA:increased expression:peripheral blood mononuclear cells (human)
DNA:SNPs:intron 3: (rs9349379, rs2026458, rs2876300) (human)
DNA:SNP:intron:g.13035530G>C (rs12526453) (human)
mRNA, protein:decreased expression:heart left ventricle (rat)

PMID:19198609 PMID:25738804 PMID:25838425 PMID:26086777 PMID:26098115 More...

RGD:11052493 RGD:11052994 RGD:11053274 RGD:11056926 RGD:401851907 RGD:401900171

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

pleckstrin homology like domain family A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,063,775...177,067,714
Ensembl chr 1:181,367,976...181,368,359

G

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

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

phospholipase A2 group VII

protein:decreased expression:serum

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

plasminogen activator, tissue type

treatment

CTD Direct Evidence: therapeutic
DNA:snp:enhancer:g.-7351C>T (human)

PMID:1430592 PMID:1492007 PMID:1898952 PMID:1899364 PMID:1900011 More...

RGD:11541077 RGD:1580881

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

plasminogen activator, urokinase

mRNA, protein:increased expression:myocardium
DNA:SNP:3' utr:c.*141C>T (rs4065) (human)
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:1908371 PMID:2174952 PMID:2382605 PMID:3068399 PMID:3984876 More...

RGD:6484126 RGD:6484133 RGD:6484145

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

plasminogen activator, urokinase receptor

NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561
Ensembl chr19:49,197,341...49,222,561

G

phospholipase C beta 1

protein:increased expression:heart

NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019

G

phospholipase C beta 3

protein:increased expression:heart

NCBI chr11:59,608,651...59,626,289
Ensembl chr11:62,953,587...62,971,393

G

phospholamban

treatment

CTD Direct Evidence: marker/mechanism
protein:decreased expression:heart left ventricle (rat)

PMID:16026515 PMID:16162791 PMID:23781262 PMID:26067684

RGD:11097969 RGD:7327176

NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668

G

paraoxonase 1

PMID:10610741 PMID:10978258

RGD:1580198 RGD:1580202

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

periostin

protein:increased expression:heart:

NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212

G

peroxisome proliferator activated receptor alpha

DNA:SNP:intron:rs4253623, minor allele associated with increased risk

Ensembl chr22:45,218,364...45,302,970

G

PPARG coactivator 1 alpha

protein:decreased expression:heart (rat)
CTD Direct Evidence: marker/mechanism

PMID:22087236 PMID:22503866

RGD:6484266 RGD:7242181

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

protein kinase C epsilon

CTD Direct Evidence: therapeutic
RNA:decreased expression:myocardium:

PMID:16782078 PMID:28887629

NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313

G

protein kinase D1

treatment

NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030

G

protein C, inactivator of coagulation factors Va and VIIIa

NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625

G

proteasome 20S subunit alpha 6

susceptibility

ClinVar Annotator: match by term: Myocardial infarction, susceptibility to

PMID:16845397 PMID:19282875 PMID:25741868

NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347

G

prostaglandin I2 synthase

susceptibility

DNA:SNP::1117C>A (human)
DNA:silent mutation:exon 8:1117C>A (human)
DNA:SNP:CDS: (rs5629) (human)

PMID:12040339 PMID:19040046 PMID:19046748 PMID:19327107

RGD:2313891 RGD:401901147 RGD:401901155 RGD:401901268

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

G

prostaglandin-endoperoxide synthase 2

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

pleiotrophin

protein:increased expression:myocardium (rat)

NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623

G

RAD50 double strand break repair protein

treatment

NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261

G

RAN binding protein 1

protein:decreased expression:heart ventricle, cytoplasm (rat)

NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

renin

susceptibility

CTD Direct Evidence: marker/mechanism
associated with Hypertension; protein:increased activity:plasma (human)

PMID:1668233 PMID:1759997

NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393

G

resistin

protein:increased expression:plasma

NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909

G

ribosomal protein S6 kinase B1

protein:increased threonine phosphorylation:heart left ventricle

NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653

G

ryanodine receptor 1

protein:hyperphosphorylation:extensor digitorum longus:

NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:left ventricle myocardium, plasma

PMID:9788975 PMID:19910580

NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953

G

syndecan 1

mRNA:increased expression:myocardium

NCBI chr2A:20,187,249...20,211,567
Ensembl chr2A:20,302,589...20,309,848

G

syndecan 4

protein:increased expression:plasma

NCBI chr20:41,656,406...41,679,549
Ensembl chr20:42,746,281...42,769,737

G

selectin L

CTD Direct Evidence: marker/mechanism

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

selectin P

susceptibility

protein:increased expression:serum
DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human)
associated with Hypertension;protein:increased expression:plasma

PMID:12165563 PMID:17391113 PMID:21162967 PMID:21567088

RGD:1580075 RGD:2312304 RGD:6218991 RGD:6219003

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family E member 1

susceptibility

DNA:deletion:promoter:g.-676_-674delG (human)

PMID:12477941 PMID:16053971

RGD:1626626 RGD:8547882

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

secreted frizzled related protein 2

PMID:19079247 PMID:19109969

RGD:155883169 RGD:4107088

NCBI chr 4:146,123,075...146,131,543
Ensembl chr 4:157,944,733...157,953,258

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,977,344...109,024,029

G

sonic hedgehog signaling molecule

treatment

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

sirtuin 1

protein:altered localization:nucleus

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

sirtuin 3

treatment

NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732

G

solute carrier family 27 member 1

protein:decreased expression:infarcted heart

NCBI chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171

G

solute carrier family 27 member 6

protein:decreased expression:heart

NCBI chr 5:124,378,721...124,447,729
Ensembl chr 5:130,140,967...130,212,940

G

secretory leukocyte peptidase inhibitor

treatment

NCBI chr20:41,583,429...41,585,773
Ensembl chr20:42,673,417...42,675,773

G

SMAD family member 2

treatment
ameliorates

PMID:11087260 PMID:33409963

RGD:12903276 RGD:401794430

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

G

SMAD family member 3

ameliorates

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

SMAD family member 4

treatment

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

suppressor of cytokine signaling 1

protein:increased expression:heart

NCBI chr16:10,196,432...10,198,205

G

superoxide dismutase 1

treatment

CTD Direct Evidence: therapeutic
human gene in a rat model

PMID:11864929 PMID:21600015 PMID:22006090

RGD:1581222 RGD:8655953

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

PMID:2313102 PMID:9250167 PMID:12160945 PMID:14575298

RGD:1580839 RGD:1580840 RGD:1581148

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

superoxide dismutase 3

NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781

G

secreted protein acidic and cysteine rich

mRNA:increased expression:heart

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

G

secreted phosphoprotein 1

PMID:12939547 PMID:14500723

RGD:1581325 RGD:1581386

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

serine and arginine rich splicing factor 1

treatment

protein:increased phosphorylation:heart left ventricle(rat)

NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425

G

T-box transcription factor 3

NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316

G

T-box transcription factor 5

treatment

NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739

G

TEK receptor tyrosine kinase

protein:increased expression:ventricle myocardium

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

G

tissue factor pathway inhibitor

treatment

mRNA,protein:increased expression:heart:

PMID:14656922 PMID:15630488 PMID:21229253

RGD:11060131 RGD:11060139 RGD:11062083

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

transforming growth factor beta 1

susceptibility

mRNA,protein:increased expression:heart:
associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human)
CTD Direct Evidence: marker/mechanism

PMID:16310260 PMID:16543493 PMID:27121011

RGD:11073666 RGD:1601560

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta 2

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

transforming growth factor beta receptor 1

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

transforming growth factor beta receptor 2

protein:increased expression:myocardium

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

tyrosine hydroxylase

no_association

DNA:polymorphism:intron:g.1170_1173dupTCAT (human)

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

G

thrombomodulin

CTD Direct Evidence: marker/mechanism

PMID:9843165 PMID:10627464

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

thrombospondin 1

mRNA, protein:increased expression:myocardium

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

G

toll like receptor 4

DNA:SNP:intron:rs1927911, minor allele associated with decreased risk

PMID:15864121 PMID:18549840

RGD:1580734 RGD:5562819

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

transmembrane 6 superfamily member 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,703,075...18,712,056
Ensembl chr19:19,706,235...19,715,096

G

tenascin C

protein:increased expression:heart, fibroblast

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:left ventricle myocardium, plasma

PMID:15883752 PMID:16310260 PMID:21362018

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 11b

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

G

TNF receptor superfamily member 12A

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,962,179...1,964,223
Ensembl chr16:3,134,577...3,136,581

G

TNF receptor superfamily member 14

protein:increased expression:heart, cardiomyocyte, endothelial cell (rat)

NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

TNF receptor superfamily member 1A

mRNA, protein:increased expression:left ventricle myocardium (rat)

PMID:15117889 PMID:20651834 PMID:21362018

RGD:1624194 RGD:5130892 RGD:5130975

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF receptor superfamily member 1B

mRNA, protein:decreased expression:left ventricle myocardium (rat)

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

TNF superfamily member 11

protein:increased expression:serum

NCBI chr13:23,750,835...23,784,740

G

TNF superfamily member 4

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

G

troponin I3, cardiac type

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219

G

troponin T2, cardiac type

NCBI chr 1:176,957,298...176,976,033

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

triggering receptor expressed on myeloid cells 1

disease_progression
ameliorates

NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091

G

transient receptor potential cation channel subfamily V member 1

NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579

G

titin

NCBI chr2B:65,783,512...66,064,618

G

thioredoxin

NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311

G

thioredoxin reductase 1

mRNA:decreased expression:heart left ventricle (rat)

NCBI chr12:101,862,703...101,925,104
Ensembl chr12:105,187,128...105,321,112

G

ubiquitin D

mRNA, protein; increased expression; myocardium (rat)

NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814

G

urotensin 2

associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle

NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688

G

urotensin 2 receptor

associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle

NCBI chr17:76,783,432...76,788,639
Ensembl chr17:82,592,312...82,593,702

G

versican

NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351

G

voltage dependent anion channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:129,375,267...129,408,230
Ensembl chr 5:135,529,173...135,560,005

G

voltage dependent anion channel 2

treatment

NCBI chr10:71,739,395...71,763,835

G

vascular endothelial growth factor A

treatment

protein:increased expression:serum,platelet:

PMID:10652191 PMID:25936512

RGD:126925214 RGD:7483604

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

vascular endothelial growth factor B

NCBI chr11:59,591,750...59,595,926

G

von Willebrand factor

protein:increased expression:heart:

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WD repeat domain 12

CTD Direct Evidence: marker/mechanism

PMID:19198609 PMID:25915632

NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783

G

WRN RecQ like helicase

NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855

G

X-ray repair cross complementing 3

susceptibility

DNA:polymorphism:: (human)

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

zinc finger E-box binding homeobox 2

protein:increased expression:heart (rat)

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

myocardial stunning

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

phospholamban

CTD Direct Evidence: marker/mechanism

NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

No-Reflow Phenomenon

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 5

CTD Direct Evidence: therapeutic

NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360

G

catenin beta 1

CTD Direct Evidence: therapeutic

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

junction plakoglobin

CTD Direct Evidence: therapeutic

NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479

Peripheral Arterial Occlusive Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family A member 3

ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1

PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868

NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515

peripheral artery disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:plasma

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

beta-2-microglobulin

severity

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610

G

cellular communication network factor 1

severity

associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

DAB2 interacting protein

DNA:SNP:CDS:intron 1 (rs7025486) (human)

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

GTP cyclohydrolase 1

treatment

associated with Experimental Diabetes Mellitus

NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393

G

bone morphogenetic protein 8A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:38,776,557...38,815,210

G

methylenetetrahydrofolate reductase

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

neuropeptide Y

NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657

G

neuropeptide Y receptor Y1

NCBI chr 4:155,583,870...155,604,336
Ensembl chr 4:167,372,310...167,381,597

G

neuropeptide Y receptor Y2

NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231

G

neuropeptide Y receptor Y5

NCBI chr 4:155,603,739...155,612,302

G

purinergic receptor P2Y12

NCBI chr 3:148,364,151...148,412,231

G

serpin family E member 1

associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

Prinzmetal angina

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intercellular adhesion molecule 1

protein:increased expression:plasma

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

potassium inwardly rectifying channel subfamily J member 8

NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128

Schimke immuno-osseous dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia

PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More...

NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258

ST Elevation Myocardial Infarction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

treatment

DNA:SNPs: :rs1045642,rs7779562(human)

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

ATP synthase membrane subunit c locus 2

severity

NCBI chr12:35,078,290...35,089,480

G

cellular communication network factor 1

sexual_dimorphism

protein:increased expression:blood serum (human)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

galectin 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412

vascular dementia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein

ClinVar Annotator: match by term: Vascular dementia

PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:25741868 More...

NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072

G

ATP synthase F1 subunit alpha

NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326

G

ATR interacting protein

ClinVar Annotator: match by term: Vascular dementia

PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More...

NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

G

arginine vasopressin

protein:decreased expression:brain

NCBI chr20:3,169,094...3,172,900

G

brain derived neurotrophic factor

treatment

NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239

G

complement C1r

ClinVar Annotator: match by term: Vascular dementia

PMID:25741868 PMID:33268848 PMID:35307828

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Vascular dementia

PMID:25741868 PMID:33268848

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Vascular dementia

PMID:28492532 PMID:33268848 PMID:35307828

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

cyclin dependent kinase 5

treatment

NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499

G

charged multivesicular body protein 2B

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Vascular dementia

PMID:25741868 PMID:28492532 PMID:33268848 PMID:35307828

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Vascular dementia

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

collagen beta(1-O)galactosyltransferase 1

ClinVar Annotator: match by term: Vascular dementia

NCBI chr19:17,042,743...17,070,333
Ensembl chr19:18,013,831...18,043,364

G

cAMP responsive element binding protein 1

treatment

NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130

G

diaphanous related formin 1

ClinVar Annotator: match by term: Vascular dementia

PMID:28492532 PMID:35307828

NCBI chr 5:136,876,396...136,980,097

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775

G

eukaryotic translation initiation factor 4E

protein:decreased expression:hippocampus

NCBI chr 4:91,268,463...91,329,800
Ensembl chr 4:101,941,142...101,994,809

G

erythropoietin

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

fibroblast growth factor receptor 1

treatment

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fms related receptor tyrosine kinase 1

treatment

NCBI chr13:9,584,850...9,779,542

G

glutamate-cysteine ligase modifier subunit

susceptibility

associated with stroke;DNA:polymorphism:promoter:-588C>T(human)

NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893

G

glutathione peroxidase 1

treatment

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutamate ionotropic receptor NMDA type subunit 1

associated with Alzheimer's disease

NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382

G

glutamate ionotropic receptor NMDA type subunit 2A

ClinVar Annotator: match by term: Vascular dementia

NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167

G

glutamate ionotropic receptor NMDA type subunit 2B

severity

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

G

glycogen synthase kinase 3 beta

treatment

NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771

G

heat shock protein family A (Hsp70) member 1A

DNA:polymorphism: :-110A>C(human)

NCBI chr 6:31,476,710...31,491,411

G

HtrA serine peptidase 1

ClinVar Annotator: match by term: Vascular dementia

PMID:24500651 PMID:25741868 PMID:33268848 PMID:35307828

NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

insulin like growth factor 1

severity

mRNA,protein:decreased expression:hippocampus:

PMID:16181175 PMID:22342912

RGD:10045864 RGD:1598446

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 1 beta

protein:increased expression:plasma

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

integral membrane protein 2B

ClinVar Annotator: match by term: Vascular dementia

NCBI chr13:29,383,318...29,412,018

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

lipoprotein(a)

protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk

NCBI chr 6:158,434,394...158,628,028

G

mitogen-activated protein kinase 1

treatment

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

microtubule associated protein tau

treatment

NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

protein:decreased expression:hippocampus

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

neurofilament light chain

protein:increased expression:CSF (human)

NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524

G

notch receptor 3

ClinVar Annotator: match by term: Vascular dementia

PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 More...

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

NADPH oxidase 1

treatment

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

natriuretic peptide A

ClinVar Annotator: match by term: Vascular dementia

PMID:28492532 PMID:33268848

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

pericentrin

ClinVar Annotator: match by term: Vascular dementia

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

G

phosphodiesterase 9A

treatment

NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Vascular dementia

PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828

NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739

G

paraoxonase 2

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

NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433

G

prion protein (Kanno blood group)

ClinVar Annotator: match by term: Vascular dementia

NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916

G

presenilin 2

ClinVar Annotator: match by term: Vascular dementia

PMID:26522186 PMID:33268848

NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295

G

RPGRIP1 like

susceptibility

DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)

NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

G

ribosomal protein S6

treatment

NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722

G

succinate dehydrogenase complex assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568

G

solute carrier family 20 member 2

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456

G

SMAD family member 4

ClinVar Annotator: match by term: Vascular dementia

PMID:28492532 PMID:35307828

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

synuclein alpha

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600

G

synuclein gamma

protein:increased expression:cerebrospinal fluid

NCBI chr10:83,383,566...83,391,064

G

sterol regulatory element binding transcription factor 2

DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human)

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

G

somatostatin

protein:decreased expression:brain

NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Vascular dementia

NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504

G

transmembrane protein 106B

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693

G

tumor necrosis factor

susceptibility

DNA:polymorphism:promoter:-850C>T(human)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

protein:increased expression:brain

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Vascular dementia

PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More...

NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

G

TSC complex subunit 2

ClinVar Annotator: match by term: Vascular dementia

PMID:28492532 PMID:35307828

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

tubulin beta 2A class IIa

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882

G

ubiquilin 2

ClinVar Annotator: match by term: Vascular dementia

NCBI chr X:48,829,844...48,835,040
Ensembl chr X:56,981,985...56,983,859

G

vacuolar protein sorting 13 homolog A

ClinVar Annotator: match by term: Vascular dementia

NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
cardiovascular system disease	4333
vascular disease	3043
Arterial Occlusive Diseases	759
arteriosclerosis	733
Arteriosclerosis, Severe Juvenile	0
Feigenbaum Bergeron Richardson Syndrome	0
Monckeberg arteriosclerosis	0
Schimke immuno-osseous dysplasia	1
arteriolosclerosis	1
arteriosclerosis obliterans	1
arteriosclerotic cardiovascular disease +	196
coronary artery disease +	560
intermittent claudication	9
intracranial arteriosclerosis +	74

paths to the root