RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
G
Abca1
ATP binding cassette subfamily A member 1
ISO
RGD GAD
PMID:11086027 PMID:15118671
RGD:1600951 , RGD:1331525
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcc6
ATP binding cassette subfamily C member 6
ISO
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
RGD
PMID:12176944
RGD:11038788
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11099417 PMID:11138003
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
CTD ClinVar
PMID:11099417 PMID:25741868
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Acat2
acetyl-CoA acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp
RGD
PMID:16195894
RGD:1601112
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14989558 PMID:12975417 PMID:15118671
RGD:1566498 , RGD:1331525
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acp1
acid phosphatase 1
ISO
RGD
PMID:19246900
RGD:2313179
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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Adamts7
ADAM metallopeptidase with thrombospondin type 1 motif, 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328
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Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility
ISO
protein:decreased expression:adipose tissue associated with type 2 diabetes mellitus; DNA:SNP: (rs2241766) +45T>G(human)
RGD
PMID:17878891 PMID:27218147
RGD:5686802 , RGD:329956419
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb3
adrenoceptor beta 3
no_association
ISO
DNA:missense mutation:cds:p.W64R (human) DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:9126344 PMID:11229427
RGD:1559325 , RGD:5684412
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Adtrp
androgen-dependent TFPI-regulating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378986
NCBI chr17:22,907,758...22,993,834
Ensembl chr17:22,930,740...22,993,826
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Ager
advanced glycosylation end product-specific receptor
susceptibility
ISO
DNA:polymorphism:cds:p.G82S (human) associated with Mucocutaneous Lymph Node Syndrome
RGD
PMID:20668462 PMID:22337222
RGD:6767569 , RGD:8695960
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:polymorphism:3' utr:1166A>C
RGD GAD
PMID:12975417 PMID:15118671
RGD:1566498 , RGD:1331525
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
DNA:missense mutation:cds:rs37369, rs16899974 (human)
RGD
PMID:30284143
RGD:329961317
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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Ahsg
alpha-2-HS-glycoprotein
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNPs
RGD
PMID:17062776 PMID:17062776
RGD:1625792 , RGD:1625792
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:18054314
RGD:5509083
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
DNA:snps:multiple (human)
RGD
PMID:19596330
RGD:2313883
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Ampd1
adenosine monophosphate deaminase 1
susceptibility
ISO
DNA:SNP:exon 2:34C>T (human)
RGD
PMID:11028479
RGD:329349360
NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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Angptl4
angiopoietin-like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27135400
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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Anks1a
ankyrin repeat and sterile alpha motif domain containing 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12714198
NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
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Aph1b
aph-1 homolog B, gamma secretase subunit
ISO
DNA:SNP:CDS:p.F217L (rs1047552) (human)
RGD
PMID:18987747
RGD:13703124
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27135400 PMID:2128269 PMID:15118671
RGD:1601188 , RGD:1331525
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa2
apolipoprotein A2
ISO
protein:decreased expression:serum
RGD
PMID:17923573
RGD:2313956
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apoa5
apolipoprotein A5
no_association
ISO
DNA:polymorphism:promoter:-1131T>C (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-1131T>C, c.56C>G (human)
CTD RGD
PMID:24097064 PMID:15177130 PMID:15306190
RGD:2313322 , RGD:1578412
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apob
apolipoprotein B
no_association
ISO
DNA:SNP:CDS:rs1042031 (human)
RGD GAD
PMID:9585673 PMID:28167353 PMID:15118671 PMID:1732399
RGD:1578418 , RGD:329901772 , RGD:1331525 , RGD:1578417
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoc3
apolipoprotein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24097064 PMID:14709372 PMID:15118671 PMID:15059615
RGD:1578443 , RGD:1331525 , RGD:1626412
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
susceptibility
ISO IMP
DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human) associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human) DNA:missense mutation:cds:p.C112R (human)
RGD GAD
PMID:14563588 PMID:28808185 PMID:15118671 PMID:15059615 PMID:12860263
RGD:1580039 , RGD:13703132 , RGD:1331525 , RGD:1626412 , RGD:1578449
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apom
apolipoprotein M
susceptibility
ISO
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
RGD
PMID:17674965
RGD:2314241
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
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Ar
androgen receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Arhgap31
Rho GTPase activating protein 31
susceptibility
ISO
associated with nicotine dependence;DNA:SNP: (rs10934490) (human)
RGD
PMID:19706030
RGD:329970276
NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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Atp2b1
ATPase plasma membrane Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22751097
NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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Bche
butyrylcholinesterase
susceptibility
ISO
DNA:polymorphism: :p.A539T (human)
RGD
PMID:17852836
RGD:2306777
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Brinp3
BMP/retinoic acid inducible neural specific 3
ISO
DNA:SNP: :rs12732361(human), associated with male.
RGD
PMID:27461004
RGD:14398490
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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Btnl2
butyrophilin-like 2
susceptibility
ISO
associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human)
RGD
PMID:19882345
RGD:9685030
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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C5h1orf167
similar to human chromosome 1 open reading frame 167
ISO
DNA:SNP: :rs56001051(human)
RGD
PMID:31175347
RGD:14696712
NCBI chr 5:158,495,514...158,505,671
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Carf
calcium responsive transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Cbs
cystathionine beta synthase
ISO
CBS variant c.844ins68
RGD
PMID:12855221
RGD:1600626
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
protein:increased expression:myocardium (rat) ClinVar Annotator: match by term: Coronary artery disease, modifier of CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human)
ClinVar CTD RGD
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:16934270 PMID:18940815 PMID:25741868 PMID:16297799 PMID:9537339 More...
RGD:8549513 , RGD:8549577
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl26
C-C motif chemokine ligand 26
susceptibility
ISO
protein:decreased expression:plasma (human)
RGD
PMID:16620281
RGD:11081161
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12742282
RGD:5508477
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12426226
RGD:1581178
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:heart (rat)
RGD
PMID:17449418
RGD:4890438
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
no_association
ISO
DNA:SNP:promoter
RGD
PMID:18157711
RGD:2314154
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd36
CD36 molecule
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
PMID:25741868
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40lg
CD40 ligand
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human) protein:increased expression:coronary artery, serum associated with Kidney Failure, Chronic
CTD RGD
PMID:16368305 PMID:17635572 PMID:22645426 PMID:23819214 PMID:16494885
RGD:2314209 , RGD:8547776 , RGD:7248750 , RGD:7248436
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdh5
cadherin 5
ISO
RGD
PMID:14695457
RGD:1598391
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104008 PMID:34961328
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: Coronary artery disease
ClinVar
PMID:25741868 PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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Celsr2
cadherin, EGF LAG seven-pass G-type receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:17627189
RGD:4892665
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Clcn6
chloride voltage-gated channel 6
susceptibility
ISO
DNA:SNP: :rs3737964(human)
RGD
PMID:26740945
RGD:14696742
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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Clu
clusterin
ISO
associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma
RGD
PMID:20711835
RGD:9068393
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cpe
carboxypeptidase E
severity
ISO
DNA:SNPs:CDS:intron 4, exon 4 (A2925G, G2855A) (human)
RGD
PMID:18080843
RGD:405650688
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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Crp
C-reactive protein
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24868163 PMID:19615354
RGD:2313344
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:17983622
RGD:2314352
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Cubn
cubilin
susceptibility
ISO
DNA:SNP,haplotypes:intron: (rs2291521)G>A (human)
RGD
PMID:33004870
RGD:329901841
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cyba
cytochrome b-245 alpha chain
ISO
RGD GAD
PMID:14709372 PMID:15118671
RGD:1578443 , RGD:1331525
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS:rs10741657 (human)
RGD
PMID:25003556
RGD:401901077
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Dab2ip
DAB2 interacting protein
onset
ISO
DNA:SNP:CDS:rs7025486 (human)
RGD
PMID:30595311
RGD:401938617
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Ddah1
dimethylarginine dimethylaminohydrolase 1
ISO
DNA:missense mutation:cds:rs997251 (human)
RGD
PMID:30284143
RGD:329961317
NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339
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Ddah2
DDAH family member 2, ADMA-independent
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17267746
NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511
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Ece1
endothelin converting enzyme 1
ISO
protein:increased expression:smooth muscle cell,macrophage
RGD
PMID:10973835 PMID:8994440
RGD:1580909 , RGD:7244168
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
treatment severity
ISO IMP
protein:increased expression:atherosclerotic lesions (human) associated with Hypertension;DNA:missense mutation:cds:p.L198N (human)
RGD
PMID:7968078 PMID:11927217 PMID:18923236
RGD:4144886 , RGD:8662294 , RGD:8661705
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eng
endoglin
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:21667051
RGD:7248776
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:14732757
RGD:1580982
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25245553
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:SNP: :rs13181(human)
RGD
PMID:27566080
RGD:12880440
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9396482 PMID:20559769 PMID:16159931
RGD:1580335
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20559769 PMID:16099331
RGD:1581014
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:14961168
RGD:10449426
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) DNA:polymorphisms:cds:R353Q (human)
RGD
PMID:10599031 PMID:8522401 PMID:11334615
RGD:2312400 , RGD:2312408 , RGD:2312397
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp2
fatty acid binding protein 2
ISO
associated with Diabetes Mellitus, Type 2 (MeSH:D003924)
RGD
PMID:15059615
RGD:1626412
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:20973705
RGD:5147917
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:15910853
RGD:5508464
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Fes
FES proto-oncogene, tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
G
Fgb
fibrinogen beta chain
ISO
RGD
PMID:8565160
RGD:1580382
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
G
Fgf2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus
RGD
PMID:14585103
RGD:2315879
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNP: :rs9939609 (human) DNA:SNP:intron:rs9939609 (human)
RGD
PMID:24622111 PMID:28167353
RGD:329812039 , RGD:329901772
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
Furin
furin (paired basic amino acid cleaving enzyme)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
G
Gck
glucokinase
susceptibility
ISO
DNA:SNP:promoter:-30G>A (human)
RGD
PMID:15173029
RGD:2301876
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
G
Gfod1
Gfo/Idh/MocA-like oxidoreductase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr17:21,400,142...21,504,972
Ensembl chr17:21,399,479...21,499,938
G
Ggcx
gamma-glutamyl carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
G
Gja4
gap junction protein, alpha 4
ISO
RGD
PMID:15059615
RGD:1626412
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
G
Gnb3
G protein subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16141801
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Gp6
glycoprotein VI
treatment
ISO
protein:increased expression:platelet (human)
RGD
PMID:18585516
RGD:401794134
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
Gpx1
glutathione peroxidase 1
ISO
cardiovascular complications in type 2 diabetics DNA:repeat:exon
RGD
PMID:16338763 PMID:12655278
RGD:1600708 , RGD:1600677
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gpx3
glutathione peroxidase 3
ISO
mRNA:increased expression:epicardial fat
RGD
PMID:21679057
RGD:401827169
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Gsr
glutathione-disulfide reductase
ISO
cardiovascular complications in type 2 diabetics
RGD
PMID:16338763
RGD:1600708
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent DNA:deletion
RGD
PMID:19102712 PMID:16620396
RGD:2306625 , RGD:2306633
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent DNA:deletion
RGD
PMID:19102712 PMID:16620396
RGD:2306625 , RGD:2306633
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22751097
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
G
H19
H19 imprinted maternally expressed transcript
susceptibility
ISO
DNA:SNPs,haplotype:intron: (rs2735971,rs2839698,rs3024270) (human)
RGD
PMID:32454910
RGD:242905209
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hectd4
HECT domain E3 ubiquitin protein ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22751097
NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
G
Hfe
homeostatic iron regulator
no_association
ISO
RGD
PMID:12746412
RGD:1582673
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hgf
hepatocyte growth factor
ISO
RGD
PMID:11669408
RGD:8548610
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hhipl1
HHIP-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 6:127,219,616...127,243,839
Ensembl chr 6:127,220,014...127,242,564
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:12742282
RGD:5508477
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hmox1
heme oxygenase 1
no_association susceptibility
ISO
DNA:repeat:promoter CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12136229 PMID:14691581 PMID:12377749 PMID:12136229
RGD:1580470 , RGD:1580454 , RGD:1598401
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hnf1a
HNF1 homeobox A
susceptibility
ISO
DNA:SNP:intron 1: (rs7310409) G>A (human) DNA:SNP,haplotypes:intron: (rs55783344) C>T(human) DNA:SNPs,haplotypes:multiple
RGD
PMID:25202455 PMID:33004870 PMID:28035729
RGD:329901832 , RGD:329901841 , RGD:329901837
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
G
Hp
haptoglobin
ISO
protein:increased expression:serum
RGD
PMID:884791
RGD:1626363
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hs3st1
heparan sulfate-glucosamine 3-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Coronary artery disease
ClinVar
PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 PMID:17558387 PMID:17568005 PMID:19122651 PMID:19303047 PMID:19858363 PMID:21152010 PMID:22090374 PMID:28126521 More...
NCBI chr14:71,185,826...71,223,263
Ensembl chr14:71,185,682...71,223,248
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
sexual_dimorphism
ISO
associated with obesity;mRNA,protein:increased expression:multiple (human)
RGD
PMID:23009206
RGD:329901914
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
G
Hspd1
heat shock protein family D (Hsp60) member 1
severity
ISO
RGD
PMID:11222468
RGD:1624218
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Ica1l
islet cell autoantigen 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
G
Il10
interleukin 10
no_association susceptibility
ISO
DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) DNA:SNP:promoter:-1082A>G (rs1800896) (human)
RGD
PMID:16460885 PMID:29525679 PMID:29525679
RGD:1598621 , RGD:14975129 , RGD:14975129
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il15
interleukin 15
ISO
associated with Hypertension;protein:increased expression:serum
RGD
PMID:16109314
RGD:1626610
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:peripheral blood (human)
RGD
PMID:22780915
RGD:7175093
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
DNA:polymorphisms: :-27307T>A, -27614C>A (human)
RGD
PMID:20602249
RGD:5144241
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD
PMID:19368923
RGD:2307251
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20524934
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
G
Irs1
insulin receptor substrate 1
ISO
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10591678 PMID:10591678
RGD:1624974
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Itga2
integrin subunit alpha 2
no_association
ISO
RGD
PMID:15227729
RGD:1582294
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
G
Jcad
junctional cadherin 5 associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378988
NCBI chr17:53,089,382...53,130,996
Ensembl chr17:53,089,382...53,130,967
G
Kalrn
kalirin, RhoGEF kinase
susceptibility onset severity
ISO
DNA:SNP:intron: (rs9289231) T>G (human) associated with nicotine dependence; DNA:SNPs:multiple associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs9289231) T>G (human) DNA:SNP:intron: (rs9289231) (human)
RGD
PMID:30483314 PMID:19706030 PMID:27218147 PMID:25316661
RGD:329955537 , RGD:329970276 , RGD:329956419 , RGD:11076452
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
G
Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
G
Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISS
OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466
MouseDO
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
G
Kif6
kinesin family member 6
sexual_dimorphism no_association treatment
ISO
DNA:SNP: :rs20455 (human) associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human)
RGD
PMID:18222354 PMID:25629058 PMID:21458191 PMID:26443250 PMID:26997531 PMID:19371834 More...
RGD:243048446 , RGD:243048454 , RGD:243048451 , RGD:11527801 , RGD:243048449 , RGD:243048447
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
G
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter: -G395>A (human)
CTD RGD
PMID:12669274 PMID:16979405 PMID:16579981
RGD:1581721 , RGD:1581723
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Ldlr
low density lipoprotein receptor
no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21378990 PMID:27135400 PMID:16459141
RGD:1581823
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lepr
leptin receptor
susceptibility
ISO
DNA:SNP:cds:p.Q223R(human)
RGD
PMID:27257426
RGD:21079462
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378988 PMID:34961328 PMID:35590109
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Lipc
lipase C, hepatic type
susceptibility no_association
ISO
associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) DNA:SNP,haplotypes: (rs17269397)A>G (human)
RGD GAD
PMID:11916946 PMID:33004870 PMID:15118671 PMID:12689525 PMID:15099346
RGD:2308839 , RGD:329901841 , RGD:1331525 , RGD:1600664 , RGD:1600663
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lipg
lipase G, endothelial type
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
G
Lmod1
leiomodin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28530674
NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
G
Lox
lysyl oxidase
IDA
RGD
PMID:12393934
RGD:1581886
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Lpl
lipoprotein lipase
ISO
RGD
PMID:8641022
RGD:1580537
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: Coronary artery disease
ClinVar
PMID:28492532
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
G
Lrp8
LDL receptor related protein 8
no_association onset
ISO
DNA:missense mutation:cds:p.R952Q (human)
RGD
PMID:18592168 PMID:17847002
RGD:2306125 , RGD:2306124
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
G
Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15266304 PMID:15973460
RGD:1580414
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Lum
lumican
ISO
RGD
PMID:11890723
RGD:1582121
NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
G
Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
associated with hypothyroidism;mRNA:decreased expression:venous blood (human)
RGD
PMID:32495070
RGD:155791451
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
G
Mat2a
methionine adenosyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
G
Mef2a
myocyte enhancer factor 2a
ISO
RGD
PMID:15811259
RGD:1580548
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
G
Mia3
MIA SH3 domain ER export factor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery disease
CTD ClinVar
PMID:21378990 PMID:25741868 PMID:34961328
NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
G
Mir1
microRNA 1
disease_progression
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr18:1,887,537...1,887,623
G
Mir126a
microRNA 126a
disease_progression severity
ISO
miRNA:increased expression:blood plasma (human) associated with Stable Angina,
RGD
PMID:25728840 PMID:27497911
RGD:11056497 , RGD:401850779
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir133a1
microRNA 133a-1
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr18:1,885,082...1,885,168
G
Mir145
microRNA 145
disease_progression
ISO
miRNA:decreased expression:artery wall (human)
RGD
PMID:25938589
RGD:11054026
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
G
Mir146a
microRNA 146a
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: (rs2910164) (human) miRNA:increased expression:peripheral blood mononuclear cell, plasma
CTD RGD
PMID:20524934 PMID:26909569 PMID:31866771
RGD:329337364 , RGD:21081515
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Mir146b
microRNA 146b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20524934
NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
G
Mir155
microRNA 155
ISO
miRNA:decreased expression:peripheral blood mononuclear cell, plasma
RGD
PMID:31866771
RGD:21081515
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir195
microRNA 195
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
G
Mir208a
microRNA 208a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr15:28,425,570...28,425,652
G
Mir21
microRNA 21
ISO
miRNA:increased expression:peripheral blood mononuclear cell, plasma miRNA:increased expression:blood plasma (human)
RGD
PMID:31866771 PMID:25728840
RGD:21081515 , RGD:11056497
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mir214
microRNA 214
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
G
Mir223
microRNA 223
treatment
ISO
RGD
PMID:25350775
RGD:11076984
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mir30a
microRNA 30a
disease_progression
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
G
Mir30e
microRNA 30e
ISO
miRNA:increased expression:plasma, extracellular exosome (human)
RGD
PMID:30816508
RGD:401827150
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
G
Mir320a
microRNA 320a
disease_progression
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:25728840
RGD:11056497
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
G
Mir423
microRNA 423
disease_progression
ISO
DNA:SNP: :rs6505162 (human) miRNA:decreased expression:serum
RGD
PMID:30289085 PMID:32404537
RGD:158014893 , RGD:158014898
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
G
Mlxipl
MLX interacting protein-like
susceptibility
ISO
DNA:SNPs,haplotypes: (rs3812316) (human) DNA:SNP:cds: G771C, Q241H (rs381231) DNA:SNP:cds: C771G, H241Q
RGD
PMID:21726544 PMID:19571538 PMID:25179879
RGD:401794579 , RGD:401794582 , RGD:401794581
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
G
Mmp1
matrix metallopeptidase 1
severity
ISO
DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human)
RGD
PMID:15619398 PMID:17893005
RGD:1582527 , RGD:7207049
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp12
matrix metallopeptidase 12
susceptibility
ISO
RGD
PMID:10807873
RGD:1582366
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
G
Mmp3
matrix metallopeptidase 3
ISO
DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human) CTD Direct Evidence: marker/mechanism associated with Mucocutaneous Lymph Node Syndrome
CTD RGD
PMID:8662692 PMID:17893005 PMID:16100452
RGD:7207049 , RGD:8693322
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp9
matrix metallopeptidase 9
susceptibility treatment
ISO IEP
RGD
PMID:15191941 PMID:26261622
RGD:1582644 , RGD:11344965
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mras
muscle RAS oncogene homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990 PMID:35590109
NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
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Mrps6
mitochondrial ribosomal protein S6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990 PMID:34961328
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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Mthfr
methylenetetrahydrofolate reductase
no_association susceptibility
ISO
DNA:transition:cds:g.677C>T (human) DNA:SNPs: (rs1801133, rs4846049) (Human)
RGD
PMID:15648053 PMID:24315498 PMID:12387655
RGD:1580579 , RGD:401850782 , RGD:6893453
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mylip
myosin regulatory light chain interacting protein
ISO
ClinVar Annotator: match by term: Coronary atherosclerosis
ClinVar
NCBI chr17:19,286,649...19,308,295
Ensembl chr17:19,286,650...19,308,295
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Mylk
myosin light chain kinase
susceptibility
ISO
associated with nicotine dependence; DNA:SNP: (rs16834817)
RGD
PMID:19706030
RGD:329970276
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nampt
nicotinamide phosphoribosyltransferase
ISO
RGD
PMID:17283255
RGD:1642340
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Nat2
N-acetyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21572414
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nbeal1
neurobeachin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nnmt
nicotinamide N-methyltransferase
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28174167
RGD:401793727
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
DNA:polymorphisms: :p.G908R, 3020_3021insC (human)
RGD
PMID:21565239
RGD:5508725
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte
RGD
PMID:14764920
RGD:1580941
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:duplication:intron:IVS4?-?+27 (human) CTD Direct Evidence: marker/mechanism DNA:snp:promoter:g.-786T>C (human) DNA:snp:cds:c.894G>T (human)
CTD RGD
PMID:10510054 PMID:14989558 PMID:17267746 PMID:19696404 PMID:8564837 PMID:19761682 PMID:16284093 More...
RGD:7421529 , RGD:7771578 , RGD:7771567
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppa
natriuretic peptide A
ISO
DNA:snp:cds:c.2238T>C (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human)
RGD
PMID:12514664 PMID:22170009
RGD:1579982 , RGD:7247716
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18022110
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
associated with type 2 diabetes mellitus;mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:28871240
RGD:401850555
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
DNA:missense mutation:cds:p.N363S (human)
RGD
PMID:12623935
RGD:1580790
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP,haplotype: :p.S326C (rs1052133) (human)
RGD
PMID:23368530
RGD:401827273
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Olr1
oxidized low density lipoprotein receptor 1
severity
ISO
DNA:snp:3' utr:T>C (human) DNA:missense mutation:cds:p.K167N (human)
RGD
PMID:12810610 PMID:15562935
RGD:1580995 , RGD:1580994
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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Pappa
pappalysin
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11586954 PMID:16055491
RGD:1642327
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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Parl
presenilin associated, rhomboid-like
susceptibility
ISO
DNA:missense mutation:cds:p.L262V (human)
RGD
PMID:18758826
RGD:12902623
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990 PMID:27135400
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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Pdgfd
platelet derived growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378988 PMID:34961328
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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Pecam1
platelet and endothelial cell adhesion molecule 1
no_association
ISO
DNA:missense mutations:cds:p.N536S, p.G670R (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.L125V (human) DNA:polymorphism:5' utr:g.53G>A (human)
CTD RGD
PMID:28530674 PMID:11795274 PMID:10780329 PMID:12732396
RGD:2311656 , RGD:6771225 , RGD:1581010
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Phactr1
phosphatase and actin regulator 1
susceptibility sexual_dimorphism
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation, hypomethylation:promoter, exon: (human) DNA:SNP:exon: (rs4714955) (human) DNA:SNPs:intron: (rs9381439, rs9349379) (human) associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453) (human) DNA:SNP:intron:g.12903957A>G (rs9349379) (human) DNA:SNP:intron:g.12903725A>G (rs9349379) (human)
CTD RGD
PMID:21378990 PMID:22751097 PMID:26098115 PMID:34961328 PMID:31499127 PMID:27066539 PMID:27893421 PMID:29784573 PMID:27517945 PMID:30777881 More...
RGD:401901251 , RGD:401901243 , RGD:401900688 , RGD:401900687 , RGD:401900135 , RGD:401851919
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Pik3c2g
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
PMID:25741868
NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
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Pla2g7
phospholipase A2 group VII
disease_progression susceptibility
ISO
DNA:polymorphism: :p.A379V (human)
RGD
PMID:17070179 PMID:15115767
RGD:6482777 , RGD:6482781
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plpp3
phospholipid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
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Pnpla3
patatin-like phospholipase domain containing 3
ISO
associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human)
RGD
PMID:31377187
RGD:14981594
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human) ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to CTD Direct Evidence: marker/mechanism|therapeutic protein:increased activity:serum (human)
ClinVar CTD RGD
PMID:7916578 PMID:8098250 PMID:8675673 PMID:8770857 PMID:9215303 PMID:9385372 PMID:9443884 PMID:11238489 PMID:11810302 PMID:11888590 PMID:12082503 PMID:15241482 PMID:21170047 PMID:21629682 PMID:25741868 PMID:10729395 PMID:15785307 PMID:11917194 More...
RGD:1580196 , RGD:8547681 , RGD:1580203
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pon2
paraoxonase 2
severity
ISO
DNA:missense mutation:cds:p.C311S (human)
RGD
PMID:12454802
RGD:1580217
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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Ppara
peroxisome proliferator activated receptor alpha
susceptibility
ISO
DNA:snp:intron: (human)
RGD
PMID:16043164
RGD:1580228
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human)
RGD
PMID:21709632
RGD:8552814
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
mRNA:decreased expression:blood (human)
RGD
PMID:30015926
RGD:401901084
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Prdm16
PR/SET domain 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35590109
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Prkag2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Coronary artery disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
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Procr
protein C receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28530674
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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Psrc1
proline and serine rich coiled-coil 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14642682
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human)
RGD
PMID:23460043
RGD:7242420
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
DNA:SNP:exon 8:g.981C>T (human)
RGD
PMID:21676396
RGD:401965429
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: rs2476601
RGD
PMID:21846984
RGD:6484553
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Ptprd
protein tyrosine phosphatase, receptor type, D
ISO
DNA:SNP:intron: (rs10115782) (human)
RGD
PMID:22216278
RGD:401976461
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Rbp4
retinol binding protein 4
sexual_dimorphism susceptibility severity disease_progression
ISO
protein:increased expression:blood plasma (human) DNA:SNP:intron: (rs7094671) (human) associated with hypothyroidism;protein:increased expression:blood serum (human) protein:increased expression:epicardial fat (human)
RGD
PMID:25437889 PMID:25479076 PMID:31278889 PMID:18854400 PMID:21645024
RGD:329845573 , RGD:329845882 , RGD:329845849 , RGD:329845843 , RGD:329845584
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
PMID:25741868
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Sars1
seryl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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Sele
selectin E
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) ClinVar Annotator: match by term: Coronary artery disease
ClinVar RGD
PMID:25741868 PMID:17578587
RGD:2313596
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Selp
selectin P
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpina1
serpin family A member 1
ISO
protein:increased expression:serum
RGD
PMID:7832094
RGD:1643149
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:insertion:promoter: (human)
RGD
PMID:9484978
RGD:1580190
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf2
serpin family F member 2
ISO
RGD
PMID:9184412
RGD:1625532
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Slc2a4
solute carrier family 2 member 4
ISO
mRNA:decreased expression:epicardial fat, subcutaneous adipose tissue (human)
RGD
PMID:21645024
RGD:329845584
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc5a3
solute carrier family 5 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Coronary artery disease
ClinVar
PMID:25741868
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human)
RGD
PMID:16195894
RGD:1601112
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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Sod1
superoxide dismutase 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16338763
RGD:1600708
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod3
superoxide dismutase 3
ISO
RGD
PMID:10811593
RGD:1580853
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sort1
sortilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990 PMID:34961328
NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
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Spp1
secreted phosphoprotein 1
ISO
In type 2 diabetic patients
RGD
PMID:21034455
RGD:6903271
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility disease_progression severity
ISO
DNA:SNP, haplotype:: -36delG (human) associated with type 2 diabetes mellitus; mRNA:increased expression:epicardial fat (human) mRNA:decreased expression:blood serum (human)
RGD
PMID:12752570 PMID:28367087 PMID:31610782
RGD:401827912 , RGD:401842368 , RGD:401842364
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2
sterol regulatory element binding transcription factor 2
disease_progression
ISO
associated with type 2 diabetes mellitus;mRNA:increased expression:epicardial fat (human)
RGD
PMID:28367087
RGD:401842368
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tbx2
T-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35590109
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Tcf21
transcription factor 21
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: (rs12190287) (human)
CTD RGD
PMID:21378990 PMID:22751097 PMID:26909569
RGD:329337364
NCBI chr 1:22,701,353...22,704,212
Ensembl chr 1:22,701,353...22,704,202
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Tek
TEK receptor tyrosine kinase
ISO
protein:increased expression:plasma
RGD
PMID:12814387
RGD:1601489
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16890917
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfb1
transforming growth factor, beta 1
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbd
thrombomodulin
severity
ISO
RGD
PMID:17012137
RGD:1601638
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tll1
tolloid-like 1
severity
ISO
associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human)
RGD
PMID:21911782
RGD:155883159
NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20524934 PMID:15632890
RGD:1580736
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15059615
RGD:1626412
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
protein:increased expression:serum
RGD
PMID:15926884
RGD:1620893
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
RGD
PMID:19845893
RGD:5131425
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnni3
troponin I3, cardiac type
ISO
RGD
PMID:12221049
RGD:1580780
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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Tp53
tumor protein p53
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human)
RGD
PMID:29482350
RGD:14995930
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Traf6
TNF receptor associated factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20524934
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Trib1
tribbles pseudokinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097064
NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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Ttn
titin
ISO
RGD
PMID:12221049
RGD:1580780
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Twist1
twist family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Vamp5
vesicle-associated membrane protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212
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Vamp8
vesicle-associated membrane protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34961328
NCBI chr 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897
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Vdr
vitamin D receptor
severity
ISO
DNA:SNP (human)
RGD
PMID:9761785
RGD:4889864
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:14668888 PMID:15937083 PMID:15754021
RGD:1580569
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
ISO
protein:increased expression:monocyte
RGD
PMID:21938407
RGD:6480617
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vtn
vitronectin
ISO
RGD
PMID:15678274
RGD:1580816
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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Wdr12
WD repeat domain 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Wrn
WRN RecQ like helicase
ISO
RGD
PMID:11186893
RGD:1580824
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Xrcc1
X-ray repair cross complementing 1
onset
ISO
DNA:polymorphism:: (rs1799782) (human)
RGD
PMID:24315498
RGD:401850782
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human)
RGD
PMID:23368530
RGD:401827273
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Zc3hc1
zinc finger, C3HC-type containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21378990
NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933
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Zfyve21
zinc finger FYVE-type containing 21
ISO
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
ClinVar
PMID:25741868
NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411
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Zhx3
zinc fingers and homeoboxes 3
ISO
ClinVar Annotator: match by term: Coronary atherosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:149,417,787...149,548,671
Ensembl chr 3:149,417,818...149,527,079
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Arhgap17
Rho GTPase activating protein 17
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 1:177,807,579...177,897,027
Ensembl chr 1:177,807,583...177,896,854
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Bax
BCL2 associated X, apoptosis regulator
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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C3
complement C3
ISO
RGD
PMID:26476955
RGD:11552746
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cacng4
calcium voltage-gated channel auxiliary subunit gamma 4
ISO
mRNA:decreased expression:blood:
RGD
PMID:27746059
RGD:13524557
NCBI chr10:92,683,778...92,745,842
Ensembl chr10:92,683,761...92,746,126
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Casp3
caspase 3
treatment
IEP
RGD
PMID:26550220
RGD:13782284
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp7
caspase 7
treatment
IEP
RGD
PMID:26550220
RGD:13782284
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Ccn1
cellular communication network factor 1
ameliorates
ISO
RGD
PMID:30371213
RGD:329845516
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Dram1
DNA-damage regulated autophagy modulator 1
ameliorates
IEP ISO
mRNA,protein:decreased expression:heart
RGD
PMID:30144448 PMID:30144448
RGD:407571674 , RGD:407571674
NCBI chr 7:22,742,794...22,776,888
Ensembl chr 7:22,742,849...22,776,765
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Dsc2
desmocollin 2
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IEP
RGD
PMID:23054911
RGD:405650598
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:blood
RGD
PMID:35693610
RGD:329901852
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gata5
GATA binding protein 5
susceptibility
ISO
DNA:SNPs:promoter:rs80197101, rs77067995 (human)
RGD
PMID:33684162
RGD:155260335
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gp6
glycoprotein VI
ameliorates sexual_dimorphism
ISO
DNA:missense mutation:CDS:p.S219P (rs1613662) (human) DNA:missense mutation:intron 1, intron 5: (rs1671207, rs11084382) (human)
RGD
PMID:20227257 PMID:20227257
RGD:401794138 , RGD:401794138
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:28374671
RGD:401827832
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gsk3b
glycogen synthase kinase 3 beta
treatment ameliorates
IEP
RGD
PMID:26591365 PMID:32068187
RGD:13792778 , RGD:267358468
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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H19
H19 imprinted maternally expressed transcript
ameliorates
IMP
RGD
PMID:31755219
RGD:213230161
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Acute myocardial infarction
ClinVar
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il10
interleukin 10
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
IEP
RGD
PMID:24837094
RGD:40813741
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
IEP
RGD
PMID:24837094
RGD:40813741
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itgam
integrin subunit alpha M
treatment
ISO
RGD
PMID:21238619
RGD:329901664
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Kif6
kinesin family member 6
ISO
DNA:SNP: :p.W719R (rs20455) (human)
RGD
PMID:20044086
RGD:243048455
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
IEP
RGD
PMID:30144448
RGD:407571674
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Mir126a
microRNA 126a
disease_progression
ISO
RGD
PMID:36523365 PMID:32595526
RGD:401851047 , RGD:401851053
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir146a
microRNA 146a
ISO
miRNA:increased expression:peripheral blood mononuclear cell, plasma
RGD
PMID:31866771
RGD:21081515
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
ISO
miRNA:decreased expression:peripheral blood mononuclear cell, plasma
RGD
PMID:31866771
RGD:21081515
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
treatment
IMP
RGD
PMID:29536180
RGD:329403057
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir21
microRNA 21
ISO
miRNA:increased expression:peripheral blood mononuclear cell, plasma RNA:decreased expression:serum
RGD
PMID:31866771 PMID:32595526
RGD:21081515 , RGD:401851053
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223
microRNA 223
treatment
IMP
RGD
PMID:29689569
RGD:25823140
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir320a
microRNA 320a
ISO
RGD
PMID:29990866
RGD:155882565
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Ndufb5
NADH:ubiquinone oxidoreductase subunit B5
ameliorates
IEP
associated with obesity
RGD
PMID:35257523
RGD:401794445
NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
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Pf4
platelet factor 4
treatment
IEP
RGD
PMID:29407168
RGD:329901925
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Plcg1
phospholipase C, gamma 1
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Ppbp
pro-platelet basic protein
treatment
IEP
RGD
PMID:29407168
RGD:329901925
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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Pten
phosphatase and tensin homolog
ameliorates
IEP ISO
mRNA:decreased expression:heart left ventricle (rat) RNA:increased expression:serum
RGD
PMID:26973267 PMID:32595526 PMID:29990866
RGD:11526378 , RGD:401851053 , RGD:155882565
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rhoa
ras homolog family member A
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Rit2
Ras-like without CAAX 2
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr18:22,565,403...22,921,648
Ensembl chr18:22,565,404...22,921,648
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ameliorates
IEP
associated with obesity
RGD
PMID:35257523
RGD:401794445
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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Serping1
serpin family G member 1
ISO IEP
mRNA:increased expression:heart
RGD
PMID:26476955 PMID:26476955
RGD:11552746 , RGD:11552746
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Sqstm1
sequestosome 1
treatment
IEP
RGD
PMID:30144448
RGD:407571674
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Tbx1
T-box transcription factor 1
treatment
IEP
RGD
PMID:27422448
RGD:155882497
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tnf
tumor necrosis factor
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Zeb1
zinc finger E-box binding homeobox 1
ameliorates
IEP
RGD
PMID:32068187
RGD:267358468
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Edn1
endothelin 1
ISO
protein:increased expression:aortic root, coronary sinus, plasma (human)
RGD
PMID:12581682
RGD:8661757
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Serpine1
serpin family E member 1
disease_progression
ISO
protein:decreased expression, decreased activity:heart:
RGD
PMID:12615902 PMID:12615902
RGD:13208541 , RGD:13208541
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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F3
coagulation factor III, tissue factor
IEP
RGD
PMID:9916935
RGD:11341701
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
RGD
PMID:21489814
RGD:155260371
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Pdgfd
platelet derived growth factor D
ISO
RGD
PMID:19213942
RGD:9854642
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19337937
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21062213
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Mef2a
myocyte enhancer factor 2a
ISO
ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14645853 PMID:15496429 PMID:15841183 PMID:25741868
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Lrp6
LDL receptor related protein 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2
OMIM CTD ClinVar
PMID:17332414 PMID:23703864 PMID:25741868 PMID:28492532
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Arhgap9
Rho GTPase activating protein 9
ISO
ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19911011
NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to
CTD ClinVar
PMID:9737779 PMID:9894802 PMID:10359729 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 More...
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11810302
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9236417
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12138120
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA:decreased expression:blood (human)
RGD
PMID:35144391
RGD:329961301
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
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Bche
butyrylcholinesterase
susceptibility
ISO
DNA:polymorphism: :p.A539T (human)
RGD
PMID:17275003
RGD:2306778
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Cdh13
cadherin 13
IEP
protein:increased expression:artery, smooth muscle cell
RGD
PMID:12376824
RGD:2293553
NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma
RGD
PMID:14578618
RGD:1598500
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:14578618
RGD:1598500
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:14529396
RGD:1581036
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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Hmox1
heme oxygenase 1
susceptibility
ISO
RGD
PMID:16020495 PMID:14529548
RGD:1598402 , RGD:1580472
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Itgb2
integrin subunit beta 2
ISO
RGD
PMID:11703955
RGD:1581185
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Lox
lysyl oxidase
IDA
RGD
PMID:15218472
RGD:1581881
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Mapk1
mitogen activated protein kinase 1
IDA
RGD
PMID:15583728
RGD:1582284
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:15790942
RGD:1582150
NCBI chr 1:228,016,439...228,024,736
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8662692
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp7
matrix metallopeptidase 7
treatment
IEP
RGD
PMID:21139058
RGD:9685362
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16489563
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:7955204
RGD:10059621
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Npy5r
neuropeptide Y receptor Y5
IEP
mRNA, protein:increased expression:carotid artery
RGD
PMID:12689918
RGD:1625501
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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Oaz1
ornithine decarboxylase antizyme 1
susceptibility
ISO
DNA:SNP:intron:c.2222A>G (rs2074458) (human)
RGD
PMID:17761941
RGD:401851037
NCBI chr 7:8,883,855...8,886,315
Ensembl chr 7:8,883,851...8,886,310
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:12114325 PMID:16373617
RGD:1581358 , RGD:1581366
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16319143 PMID:16319143
RGD:1580322
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
RGD
PMID:14740296
RGD:1580742
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ucp3
uncoupling protein 3
susceptibility
ISO
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17786284
RGD:2313513
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Apln
apelin
ISO
protein:decreased expression:plasma
RGD
PMID:19015606
RGD:2313942
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793)
RGD
PMID:34262949
RGD:401901074
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Edn1
endothelin 1
treatment
ISO
RGD
PMID:10854676
RGD:8661796
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Hrh2
histamine receptor H 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631
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Igf1
insulin-like growth factor 1
IEP
mRNA:increased expression:myocyte:
RGD
PMID:8102103
RGD:10046053
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
IEP
mRNA:increased expression:myocyte:
RGD
PMID:8102103
RGD:10046053
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Itgav
integrin subunit alpha V
IDA
RGD
PMID:11922905
RGD:1582454
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Lmcd1
LIM and cysteine-rich domains 1
ISO
protein:increased expression:coronary artery
RGD
PMID:32160773
RGD:243065232
NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046
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Mdk
midkine
IDA
RGD
PMID:10683378
RGD:1299187
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Myh7
myosin heavy chain 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
DNA:missense mutations:cds:p.L125V, p.S563N (human)
RGD
PMID:10571959
RGD:1598382
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Phactr1
phosphatase and actin regulator 1
susceptibility
ISO
DNA:SNP::g.13011943A>G (rs9349379) (human)
RGD
PMID:22745674
RGD:401900726
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16782078
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
protein:increased expression:serum
RGD
PMID:15569000
RGD:1624167
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Gp6
glycoprotein VI
ISO
DNA:missense mutation:CDS:c.13254T>C (human)
RGD
PMID:15306180
RGD:401793750
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8598867
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1452937 PMID:8172379 PMID:15301905
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:cds: (human)
RGD
PMID:19279659
RGD:7495846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Nos3
nitric oxide synthase 3
ISO
ClinVar Annotator: match by term: Hypertension resistant to conventional therapy
ClinVar
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 More...
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ptprd
protein tyrosine phosphatase, receptor type, D
susceptibility
ISO
associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)
RGD
PMID:30237584
RGD:401976431
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Ace
angiotensin I converting enzyme
ISO
mRNA:increased expression:ventricular myocardium (human) mRNA:increased expression:myocardium
RGD
PMID:15131005 PMID:11451295
RGD:8142363 , RGD:8548894
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt
angiotensinogen
ISO
mRNA:increased expression:myocardium
RGD
PMID:11451295
RGD:8548894
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
ISO
mRNA:increased expression:myocardium
RGD
PMID:11451295
RGD:8548894
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Akt1
AKT serine/threonine kinase 1
ISO
protein:increased serine phosphorylation:platelet
RGD
PMID:20467748
RGD:5509094
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Apoa4
apolipoprotein A4
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:20367977
RGD:5685646
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:16186425
RGD:4891111
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:9761079
RGD:9491780
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Edn1
endothelin 1
ISO
associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human)
RGD
PMID:14556009
RGD:8661755
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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F7
coagulation factor VII
ISO
protein:increased expression:plasma (human)
RGD
PMID:10653827
RGD:2312399
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:18333374
RGD:5508458
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:15104219
RGD:1582303
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itgam
integrin subunit alpha M
ameliorates
ISO
protein:decreased expression:neutrophil (human)
RGD
PMID:18043994
RGD:329901840
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
RGD
PMID:10486281
RGD:1582334
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Mir126a
microRNA 126a
disease_progression
ISO
RGD
PMID:32595526
RGD:401851053
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir21
microRNA 21
ISO
RNA:decreased expression:serum
RGD
PMID:32595526
RGD:401851053
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mmp1
matrix metallopeptidase 1
ISO
RGD
PMID:14675588
RGD:1582536
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Pappa
pappalysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11586954
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2382605
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Pten
phosphatase and tensin homolog
ISO
RNA:increased expression:serum
RGD
PMID:32595526
RGD:401851053
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Selp
selectin P
ISO
protein:increased expression:serum
RGD
PMID:21162967
RGD:6219003
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:8122184
RGD:11035255
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Sod3
superoxide dismutase 3
ISO
RGD
PMID:14592844
RGD:1580841
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Txn1
thioredoxin 1
ISO
RGD
PMID:15749180
RGD:1580784
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy
ClinVar
PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: Myocardial infarction
ClinVar
PMID:16563363 PMID:18239147 PMID:20474083 PMID:21846889 PMID:23739550 PMID:23861362 PMID:24033266 PMID:24439875 PMID:25333069 PMID:25741868 PMID:26636822 PMID:26656175 PMID:26764160 PMID:28492532 More...
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Ace
angiotensin I converting enzyme
treatment susceptibility
ISO IEP IMP
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) associated with Myocardial Reperfusion Injury
ClinVar CTD RGD
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:25741868 PMID:28492532 PMID:15118671 PMID:23959549 PMID:15671045 PMID:7555560 PMID:21975128 More...
RGD:1331525 , RGD:9685449 , RGD:1558664 , RGD:7829785 , RGD:6893480
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
treatment
IEP IDA
mRNA:increased expression:myocardium
RGD
PMID:15671045 PMID:23959549
RGD:1558664 , RGD:9685449
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24358288
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Acvr2a
activin A receptor type 2A
ISO
mRNA:decreased expression:myocardium (mouse)
RGD
PMID:32427381
RGD:329849118
NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968
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Acvr2b
activin A receptor type 2B
ISO
mRNA:decreased expression:myocardium (mouse)
RGD
PMID:32427381
RGD:329849118
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
IEP
RGD
PMID:15625312
RGD:9681751
NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
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Add1
adducin 1
no_association
ISO
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:17082469 PMID:16420563
RGD:5147995 , RGD:5148001
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
IEP
RGD
PMID:21326342
RGD:5686351
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor1
adiponectin receptor 1
ISO
mRNA, protein:decreased expression:heart left ventricle
RGD
PMID:16415076
RGD:1625764
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
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Adipor2
adiponectin receptor 2
ISO
mRNA, protein:decreased expression:heart left ventricle
RGD
PMID:16415076
RGD:1625764
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12160945
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adora3
adenosine A3 receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12160945 PMID:20132822
NCBI chr 2:193,352,759...193,392,946
Ensembl chr 2:193,388,713...193,392,357
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Adra2b
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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Adrb1
adrenoceptor beta 1
ISO IMP
GAD RGD
PMID:15118671 PMID:17143192
RGD:1331525 , RGD:7241557
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
susceptibility
ISO IEP
DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I mRNA:decreased expression:heart
RGD
PMID:15520258 PMID:12400771
RGD:1601126 , RGD:8548519
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager
advanced glycosylation end product-specific receptor
susceptibility
IEP ISO
mRNA:increased expression:left ventricle myocardium (rat) DNA:polymorphism:promoter:-429T>C (human)
RGD
PMID:19910580 PMID:16728681
RGD:2325647 , RGD:1625333
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
susceptibility
IDA ISO
CTD Direct Evidence: marker/mechanism associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human) associated with hypertension;DNA:polymorphism: :p.M235T
CTD RGD
PMID:1668233 PMID:16413583 PMID:21167013 PMID:15118671 PMID:11393670 PMID:17299437 More...
RGD:5129191 , RGD:1331525 , RGD:1566452 , RGD:1601132
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
susceptibility no_association
ISO IEP
DNA:polymorphism:3' utr:1166A>C DNA:polymorphism:3' utr:1166A>C (human)
RGD GAD
PMID:16061119 PMID:9652322 PMID:15118671 PMID:9857918
RGD:1601150 , RGD:10047101 , RGD:1331525 , RGD:1566499
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahsg
alpha-2-HS-glycoprotein
ISO
protein:increased expression:plasma
RGD
PMID:19029462
RGD:2313810
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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Aimp1
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
IEP
RGD
PMID:14732363
RGD:1580021
NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
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Ak1
adenylate kinase 1
treatment
IEP
RGD
PMID:22229508
RGD:11100025
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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Akt1
AKT serine/threonine kinase 1
ISO IDA
protein:increased serine phosphorylation:platelet protein:decreased serine phosphorylation:heart
RGD
PMID:20467748 PMID:20352476
RGD:5509094 , RGD:10041035
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Aldh2
aldehyde dehydrogenase 2 family member
ISO
DNA:missense mutation: :p.E487K (human)
RGD
PMID:12452318
RGD:2311152
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
no_association
ISO
DNA:snps:multiple (human)
RGD GAD
PMID:14770184 PMID:15118671 PMID:19046748
RGD:1578317 , RGD:1331525 , RGD:2313891
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
G
Ang
angiogenin
ISO
RGD
PMID:18462761
RGD:2325719
NCBI chr15:24,312,711...24,323,361
G
Angpt1
angiopoietin 1
IEP
mRNA, protein:decreased expression:myocardium
RGD
PMID:15364619
RGD:1626168
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
G
Angpt2
angiopoietin 2
IEP
protein:increased expression:left ventricular wall, heart septum (rat)
RGD
PMID:16714360
RGD:1601493
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
G
Anxa5
annexin A5
susceptibility no_association
ISO IEP
DNA:polymorphism: :-1C>T (human) protein:altered localization:cardiac muscle cell, sarcolemma protein:increased expression:plasma
RGD
PMID:12200370 PMID:16501019 PMID:8814351 PMID:16025836
RGD:2317542 , RGD:2317541 , RGD:2317543 , RGD:1578384
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
G
Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
DNA:polymorphism:exon 5: G>A (human)
RGD
PMID:18712175
RGD:401827276
NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
G
Apoa1
apolipoprotein A1
no_association
ISO
DNA:polymorphisms
RGD GAD
PMID:20176799 PMID:15118671 PMID:10428310
RGD:2325759 , RGD:1331525 , RGD:1578442
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoa4
apolipoprotein A4
no_association susceptibility
ISO
DNA:mutation:intron:IVS2 (human) associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human)
RGD GAD
PMID:10428310 PMID:7958503 PMID:15118671
RGD:1578442 , RGD:5685678 , RGD:1331525
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
G
Apob
apolipoprotein B
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoc3
apolipoprotein C3
no_association
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
ClinVar RGD
PMID:25741868 PMID:10428310 PMID:15118671
RGD:1578442 , RGD:1331525
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human)
CTD RGD
PMID:10587578 PMID:17217375 PMID:10090925 PMID:15118671
RGD:1601229 , RGD:10449412 , RGD:1331525
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoh
apolipoprotein H
ISO IDA
RGD
PMID:15322656 PMID:12826288
RGD:2313985 , RGD:10054111
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
G
Atg7
autophagy related 7
IEP
mRNA:increased expression:plantaris
RGD
PMID:24427319
RGD:11557988
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24358288 PMID:24358288
RGD:10053570
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29702141
NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
G
Atp5f1d
ATP synthase F1 subunit delta
treatment
IEP
protein:decreased expression:myocardium (rat)
RGD
PMID:29300489 PMID:23809007
RGD:13792656 , RGD:13792681
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
G
Atp5po
ATP synthase peripheral stalk subunit OSCP
treatment
ISO
RGD
PMID:24692845
RGD:13801194
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
G
Avpr1a
arginine vasopressin receptor 1A
IMP
RGD
PMID:16423716
RGD:2300376
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
G
Bak1
BCL2-antagonist/killer 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29122578
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20079142 PMID:25450231
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19027736
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bcl2l1
Bcl2-like 1
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20079142 PMID:17467744
RGD:1643494
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
Bdkrb1
bradykinin receptor B1
IEP
mRNA:increased expression:heart
RGD
PMID:12489796
RGD:704379
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
G
Bdkrb2
bradykinin receptor B2
IEP
mRNA:increased expression:heart
RGD
PMID:12489796
RGD:704379
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
G
Becn1
beclin 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20079142 PMID:20079142
RGD:11561913
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
G
Birc5
baculoviral IAP repeat-containing 5
IEP
RGD
PMID:15081314
RGD:2293137
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
G
Bnip3
BCL2 interacting protein 3
IEP
mRNA:increased expression:plantaris
RGD
PMID:24427319
RGD:11557988
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
G
Brap
BRCA1 associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198608
NCBI chr12:34,874,533...34,901,030
Ensembl chr12:34,874,533...34,901,030
G
Brinp3
BMP/retinoic acid inducible neural specific 3
susceptibility
ISO
DNA:SNPs:3' end:
RGD
PMID:18430236
RGD:14398488
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
G
C3
complement C3
IEP
mRNA, protein:increased expression:myocardium
RGD
PMID:16996480
RGD:1600605
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C7
complement C7
IEP
Protein:increased activity:serum, myocardium
RGD
PMID:15724448
RGD:1599522
NCBI chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535
G
C8a
complement C8 alpha chain
IEP
RGD
PMID:7515561
RGD:1600501
NCBI chr 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754
G
C8b
complement C8 beta chain
IEP
RGD
PMID:7515561
RGD:1600501
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
G
Cacybp
calcyclin binding protein
IEP
mRNA:increased expression:heart
RGD
PMID:16440310
RGD:2326117
NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
G
Camk2d
calcium/calmodulin-dependent protein kinase II delta
treatment
IEP
mRNA, protein:splice variants, increased expression:heart left ventricle (rat)
RGD
PMID:26067684
RGD:11097969
NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
G
Casp1
caspase 1
severity ameliorates
ISO IEP
RGD
PMID:17303764 PMID:33389498
RGD:2315913 , RGD:242905187
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
G
Casp3
caspase 3
ameliorates treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25450231 PMID:28622474 PMID:27904666
RGD:329333030 , RGD:13782309
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Casr
calcium-sensing receptor
IEP
protein:increased expression:myocardium (rat)
RGD
PMID:22527939
RGD:7205672
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Cat
catalase
IEP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:21600015 PMID:14575298
RGD:1581148
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Cav3
caveolin 3
IEP
Protein:increased expression:cytosol mRNA, protein; increased expression; myocardium (rat)
RGD
PMID:12566108 PMID:29438664
RGD:1599542 , RGD:126925221
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
G
Ccl2
C-C motif chemokine ligand 2
treatment
IEP IDA ISO
protein:increased expression:serum DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:18459941 PMID:18753699 PMID:16116069
RGD:2307033 , RGD:8549616 , RGD:1581161
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:heart (rat)
RGD
PMID:18954648
RGD:4890013
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccn1
cellular communication network factor 1
ISO
mRNA,protein:increased expression:myocardium (mouse)
RGD
PMID:15117851
RGD:329845570
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
G
Ccn2
cellular communication network factor 2
treatment
IEP
mRNA:increased expression:left ventricle (rat)
RGD
PMID:18167060 PMID:29849775
RGD:2314623 , RGD:35673318
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Ccna2
cyclin A2
IEP
protein:increased expression:cardiomyocyte:
RGD
PMID:23634243
RGD:10054471
NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858 PMID:12853162
RGD:1581177 , RGD:1581174
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr3
C-C motif chemokine receptor 3
IDA
RGD
PMID:18954648
RGD:4890013
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Cct7
chaperonin containing TCP1 subunit 7
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1
ClinVar
PMID:24213632
NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
G
Cd14
CD14 molecule
no_association
ISO
associated with Coronary Artery Disease;DNA:SNP:promoter
RGD
PMID:10195920 PMID:14587643 PMID:17436151
RGD:1580252 , RGD:1580255 , RGD:2314155
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd36
CD36 molecule
severity
IMP
RGD
PMID:22128087
RGD:6893560
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:17635572
RGD:2314209
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd59b
CD59b molecule
IEP
protein:decreased expression:myocardium
RGD
PMID:7515561
RGD:1600501
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
treatment
IMP ISO
RGD
PMID:22492676 PMID:22492676
RGD:10045366 , RGD:10045366
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cfl1
cofilin 1
treatment
IDA
RGD
PMID:24292258
RGD:11570534
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
G
Cftr
CF transmembrane conductance regulator
ISO
associated with Myocardial Reperfusion Injury
RGD
PMID:23221371
RGD:11566046
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:18480670
RGD:4892633
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Ciita
class II, major histocompatibility complex, transactivator
susceptibility no_association
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:15821736 PMID:17183695
RGD:1358146 , RGD:5491201
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
G
Ckb
creatine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359538
NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
G
Ckm
creatine kinase, M-type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3279722 PMID:12359538
NCBI chr 1:79,061,390...79,071,721
Ensembl chr 1:79,061,456...79,071,720
G
Clu
clusterin
treatment
ISO
RGD
PMID:20854280
RGD:9068409
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:25636075
RGD:11041598
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col3a1
collagen type III alpha 1 chain
treatment
IEP
RGD
PMID:25636075
RGD:11041598
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Col4a1
collagen type IV alpha 1 chain
susceptibility
ISO
DNA:polymorphism: :p.Q1334H (human)
RGD
PMID:18077766
RGD:2311341
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Col6a3
collagen type VI alpha 3 chain
ISO
DNA:SNP:CDS:E1386K (rs146092501) (human)
RGD
PMID:30226566
RGD:401851058
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
G
Creb1
cAMP responsive element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19027736
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
G
Crem
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19027736
NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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Crp
C-reactive protein
IEP ISO
protein:increased expression:serum associated with Angina, Unstable;
RGD
PMID:21046814 PMID:9761079 PMID:22446866
RGD:5131456 , RGD:9491780 , RGD:6482304
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cs
citrate synthase
severity
IDA ISO
protein:decreased expression:diaphragm, mitochondrion
RGD
PMID:1877670 PMID:34416105
RGD:243048469 , RGD:243048471
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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Csf2
colony stimulating factor 2
IMP
RGD
PMID:21326109
RGD:5131507
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:15639484
RGD:11039417
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Csnk2a1
casein kinase 2 alpha 1
IEP
RGD
PMID:15090263
RGD:11565830
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
G
Csnk2b
casein kinase 2 beta
IEP
RGD
PMID:15090263
RGD:11565830
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNP:CDS:49A>G (human)
RGD
PMID:17652883
RGD:2301976
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Ctsb
cathepsin B
IEP
protein:increased activity:serum, heart (rat)
RGD
PMID:19958779
RGD:2315501
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
G
Cxcl12
C-X-C motif chemokine ligand 12
IEP IMP
mRNA:increased expression:heart left ventricle
RGD
PMID:11820456 PMID:19187644
RGD:632503 , RGD:2306567
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
G
Cyba
cytochrome b-245 alpha chain
IEP
mRNA:increased expression:myocardium mRNA:increase expression:ventricle myocardium:
RGD
PMID:18762777 PMID:11243862
RGD:2317860 , RGD:1599690
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cybb
cytochrome b-245 beta chain
IEP
mRNA:increase expression:ventricle myocardium
RGD
PMID:11243862
RGD:1599690
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IMP
RGD
PMID:18689429
RGD:2307303
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ameliorates
IMP
RGD
PMID:33389498
RGD:242905187
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
G
Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
susceptibility
ISO
DNA:polymorphism
RGD
PMID:17126841
RGD:1625380
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)
RGD
PMID:29804528
RGD:401901167
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
G
Dab2
DAB adaptor protein 2
IEP IMP
protein:increased expression:cardiomyocyte
RGD
PMID:21762377 PMID:20666606
RGD:7243156 , RGD:7243158
NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476
G
Dab2ip
DAB2 interacting protein
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:CDS:intron 1 (rs7025486) (human)
CTD RGD
PMID:20622881 PMID:20622881
RGD:401901599
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
G
Dag1
dystroglycan 1
treatment
IDA
RGD
PMID:12034665
RGD:11541047
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Dcn
decorin
IEP
RGD
PMID:16311904
RGD:1598497
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450231
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
G
Dgkz
diacylglycerol kinase zeta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17071729
NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
G
Dvl1
dishevelled segment polarity protein 1
IEP
RGD
PMID:15256074
RGD:1580899
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
G
Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
IEP
associated with heart failure; protein:increased expression, increased activity:heart left ventricle (rat)
RGD
PMID:26067684
RGD:11097969
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
G
Ece1
endothelin converting enzyme 1
ISO
RGD
PMID:9607404
RGD:1580912
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
G
Edn1
endothelin 1
severity
ISO IEP
protein:increased secretion:plasma (human) mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:17893002 PMID:10573185
RGD:4144880 , RGD:1580921
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Edn2
endothelin 2
IEP
RGD
PMID:10573185
RGD:1580921
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
G
Ednra
endothelin receptor type A
IDA
RGD
PMID:12524016
RGD:1580948
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IDA
RGD
PMID:12524016
RGD:1580948
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Egln1
egl-9 family hypoxia-inducible factor 1
IEP
RGD
PMID:16765982
RGD:11252084
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
G
Egln3
egl-9 family hypoxia-inducible factor 3
IEP
RGD
PMID:16765982
RGD:11252084
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
G
Epas1
endothelial PAS domain protein 1
IEP
RGD
PMID:15247145 PMID:18484163
RGD:1580977 , RGD:5147886
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Ephb1
Eph receptor B1
ameliorates
IEP
RGD
PMID:28622474
RGD:329333030
NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
G
Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:19716829
RGD:5688358
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
G
Epo
erythropoietin
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19337937 PMID:21415704
RGD:10400907
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Epor
erythropoietin receptor
IEP
RGD
PMID:21415704
RGD:10400907
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
G
Erbb2
erb-b2 receptor tyrosine kinase 2
treatment
IEP
RGD
PMID:26892146
RGD:11522702
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
G
Erbb4
erb-b2 receptor tyrosine kinase 4
treatment
IEP
RGD
PMID:26892146
RGD:11522702
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
G
Esr1
estrogen receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11894143 PMID:11919305 PMID:14600184 PMID:15133719 PMID:25741868 PMID:15118671 More...
RGD:1331525
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
F10
coagulation factor X
ISO
ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to
ClinVar
PMID:10984565 PMID:12181036 PMID:25741868
NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
G
F12
coagulation factor XII
susceptibility
ISO
DNA:polymorphism:promoter:-46C>T(human)
RGD
PMID:16411408
RGD:11041803
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
G
F13a1
coagulation factor XIII A1 chain
ISO
ClinVar Annotator: match by term: Myocardial infarction, protection against CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8025280 PMID:9459313 PMID:9550516 PMID:10365735 PMID:10910914 PMID:12072871 PMID:12456499 PMID:17393027 PMID:25741868 PMID:12480694 More...
RGD:1581022
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
G
F2
coagulation factor II, thrombin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism::20210G>A(human)
CTD RGD
PMID:9292507 PMID:9531249 PMID:10027711 PMID:12480694
RGD:1581022
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F3
coagulation factor III, tissue factor
treatment
IEP
RGD
PMID:21229253
RGD:11062083
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:1691G>A (human)
CTD RGD
PMID:9531249 PMID:10590188 PMID:15131548
RGD:11564337 , RGD:11564335
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
F7
coagulation factor VII
susceptibility
ISO
protein:increased activity:plasma (human) 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 CTD Direct Evidence: marker/mechanism DNA:missense mutation, repeat:cds, intron:p.R353Q, (human)
OMIM ClinVar CTD RGD
PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7981691 PMID:8242057 PMID:8844208 PMID:8883260 PMID:10554827 PMID:10862079 PMID:10984565 PMID:11129332 PMID:11931672 PMID:12181036 PMID:12903033 PMID:12935978 PMID:15142120 PMID:15456489 PMID:15735798 PMID:18282149 PMID:18669152 PMID:18976247 PMID:20040857 PMID:20735728 PMID:20958793 PMID:21902896 PMID:22180436 PMID:25582404 PMID:25741868 PMID:25828579 PMID:25952977 PMID:26105150 PMID:28492532 PMID:31064749 PMID:34355501 PMID:7495060 PMID:9420338 PMID:16116695 More...
RGD:2312409 , RGD:11049521 , RGD:1580374
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp3
fatty acid binding protein 3
ISO
RGD
PMID:8326460
RGD:1582401
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
G
Fgb
fibrinogen beta chain
ISO
GAD RGD
PMID:15118671 PMID:9437197
RGD:1331525 , RGD:1580381
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
G
Fgf1
fibroblast growth factor 1
treatment
ISO
RGD
PMID:24200746
RGD:10449026
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:17439742
RGD:10402087
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Fgfr2
fibroblast growth factor receptor 2
ameliorates
ISO
RGD
PMID:19358330
RGD:155663664
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Fis1
fission, mitochondrial 1
IEP
protein:increased expression:plantaris (rat)
RGD
PMID:24427319
RGD:11557988
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Flt1
Fms related receptor tyrosine kinase 1
IEP
RGD
PMID:16714360
RGD:1601493
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:24184252
RGD:11049498
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fn1
fibronectin 1
IEP
protein:decreased expression:heart
RGD
PMID:19695229
RGD:2325720
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:paraventricular nucleus hypothalamus, paraventricular nucleus thalamus
RGD
PMID:27601012
RGD:405649741
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
treatment
ISO
mRNA, protein:decreased expression:heart DNA:SNP: :rs17817449 (human) associated with type 2 diabetes mellitus;DNA:SNP:intron:rs9939609 (human)
RGD
PMID:29997116 PMID:26772723 PMID:20031593 PMID:29997116
RGD:329812009 , RGD:11555187 , RGD:329901766 , RGD:329812009
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
Fzd2
frizzled class receptor 2
IEP
mRNA:increased expression:heart left ventricle
RGD
PMID:9142123
RGD:4107058
NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:20462747
RGD:10449173
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gata4
GATA binding protein 4
treatment
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:20200331 PMID:23948075
RGD:7327215
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
G
Gatm
glycine amidinotransferase
ISO
RGD
PMID:31972362
RGD:329961305
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
G
Gch1
GTP cyclohydrolase 1
treatment
IDA IEP
RGD
PMID:32782412 PMID:26192027
RGD:329961570 , RGD:329970290
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Gclc
glutamate-cysteine ligase, catalytic subunit
ISO
DNA:snp:promoter:c.-129C>T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
OMIM CTD ClinVar RGD
PMID:12598062 PMID:12598062
RGD:1302515
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
G
Gclm
glutamate cysteine ligase, modifier subunit
susceptibility
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:12081989 PMID:12975258
NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
G
Ggt1
gamma-glutamyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19419996
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gh1
growth hormone 1
treatment
ISO
RGD
PMID:12500159
RGD:11352745
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghrh
growth hormone releasing hormone
treatment
IDA
RGD
PMID:24373935
RGD:10401242
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
G
Gja1
gap junction protein, alpha 1
treatment
IEP IMP
protein:decreased phosphorylation
RGD
PMID:22969867 PMID:29428663 PMID:22841862
RGD:7207261 , RGD:13592597 , RGD:7207262
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
G
Gja4
gap junction protein, alpha 4
ISO
RGD
PMID:15982495
RGD:1580400
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Gja5
gap junction protein, alpha 5
treatment
IEP
RGD
PMID:29428663
RGD:13592597
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
RGD
PMID:15269835
RGD:1580432
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Gp6
glycoprotein VI
sexual_dimorphism treatment no_association susceptibility onset
ISO
DNA:missense mutation:CDS:c.13254T>C (p.S219P) (human) human protein in a mouse model DNA:missense mutation:CDS:c.13254T>C (p.S219P) (rs1613662) (human) DNA:missense mutation:exon 7:c.645213C>T (p.T249A) (human) DNA:SNP, missense mutation:promoter, CDS:c.-148C>T, c.13254T>C (p.S219P) (human)
RGD
PMID:11571236 PMID:22814400 PMID:20723028 PMID:12417295 PMID:11571236 PMID:11571236 More...
RGD:401793749 , RGD:401824647 , RGD:401794407 , RGD:401793754 , RGD:401793749 , RGD:401793749
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
Gpt
glutamic--pyruvic transaminase
treatment
IEP
RGD
PMID:32026788
RGD:401793703
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
RGD
PMID:14573732
RGD:1600662
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16716347 PMID:16565311
RGD:10045368
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Gsn
gelsolin
ameliorates
ISO IEP
protein:decreased expression:blood serum (human)
RGD
PMID:9142022 PMID:28622474
RGD:329333022 , RGD:329333030
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:25119867
RGD:10401898
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1
ClinVar
PMID:24213632
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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H19
H19 imprinted maternally expressed transcript
ameliorates
IMP
RGD
PMID:33389498
RGD:242905187
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hadh
hydroxyacyl-CoA dehydrogenase
IEP
RGD
PMID:11481570
RGD:2302229
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Hamp
hepcidin antimicrobial peptide
IEP
mRNA:increased expression:heart
RGD
PMID:19615879
RGD:11041636
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
no_association susceptibility
ISO
RGD
PMID:12850485 PMID:10491370
RGD:1582672 , RGD:1582697
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hgf
hepatocyte growth factor
treatment
ISO
protein:increased expression:serum:
RGD
PMID:12419930 PMID:16570015
RGD:8548609 , RGD:8548632
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ameliorates treatment
IEP ISO
mRNA:increased expression:heart left ventricle human gene in a rat model
RGD
PMID:18484163 PMID:28622474 PMID:15247145 PMID:15999059
RGD:5147886 , RGD:329333030 , RGD:1580977 , RGD:9068466
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21113057 PMID:23188125
RGD:10402174
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmox1
heme oxygenase 1
IEP IDA
RGD
PMID:12392996 PMID:20925964
RGD:1598393 , RGD:4145134
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17068284 PMID:17207726 PMID:3990081 PMID:2613263
RGD:1626360 , RGD:1626354
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ameliorates
ISO
RGD
PMID:28522730 PMID:26465199
RGD:329902054 , RGD:11087531
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP ISO
mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17587755 PMID:17587755
RGD:2308939
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450231
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
G
Hspd1
heat shock protein family D (Hsp60) member 1
IEP
RGD
PMID:17202668
RGD:1624230
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Icam1
intercellular adhesion molecule 1
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10070497 PMID:23139358
RGD:8547733
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Igf1
insulin-like growth factor 1
severity
IEP ISO
mRNA, protein:increased expression:myocardium
RGD
PMID:19295919 PMID:16635594
RGD:2306696 , RGD:1598421
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
IEP
mRNA,protein:increased expression:myocyte:
RGD
PMID:8682060
RGD:10046050
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Il10
interleukin 10
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15883752 PMID:16310260 PMID:15466015
RGD:1598480
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17a
interleukin 17A
IEP
mRNA, protein:increased expression:heart left ventricle (rat)
RGD
PMID:23096364
RGD:9095344
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ameliorates
IEP
RGD
PMID:33389498
RGD:242905187
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il18bp
interleukin 18 binding protein
ISO
RGD
PMID:19805173
RGD:4889400
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
G
Il1b
interleukin 1 beta
ameliorates
IDA IEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat)
CTD RGD
PMID:11743230 PMID:15883752 PMID:16310260 PMID:23143013 PMID:33389498 PMID:23237935 More...
RGD:7175553 , RGD:242905187 , RGD:7204425
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18474815 PMID:19005744
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
IEP
mRNA:increased expression:heart
RGD
PMID:10807530
RGD:4889985
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15883752 PMID:16310260
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
IEP
RGD
PMID:12123772
RGD:1625444
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Inhba
inhibin subunit beta A
IEP ISO
mRNA:increased expression:heart (rat) mRNA:increased expression:myocardium (mouse)
RGD
PMID:14993131 PMID:32427381
RGD:1580888 , RGD:329849118
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Inhbb
inhibin subunit beta B
ISO
mRNA:increased expression:myocardium (mouse)
RGD
PMID:32427381
RGD:329849118
NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
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Isl1
ISL LIM homeobox 1
ameliorates
ISO
RGD
PMID:29482621 PMID:22727192
RGD:243048463 , RGD:243048464
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Itga2
integrin subunit alpha 2
susceptibility no_association
ISO
RGD
PMID:16697311 PMID:10194421 PMID:15227729
RGD:1582296 , RGD:1581029 , RGD:1582294
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itga3
integrin subunit alpha 3
IEP
protein:increased expression:myocardium (rat)
RGD
PMID:19041328
RGD:2325287
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Itgam
integrin subunit alpha M
treatment
ISO
RGD
PMID:29933226
RGD:329853753
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgb1
integrin subunit beta 1
treatment
IMP
RGD
PMID:28367125
RGD:13602094
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Itgb3
integrin subunit beta 3
no_association susceptibility
ISO
DNA:polymorphism:exon: ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism associated with arteriosclerosis; DNA:polymorphism:exon
OMIM ClinVar CTD RGD
PMID:2014236 PMID:7570918 PMID:8598867 PMID:8667943 PMID:8838346 PMID:9700201 PMID:10583927 PMID:10727448 PMID:11723016 PMID:17264806 PMID:25728920 PMID:25741868 PMID:28492532 PMID:9716140 PMID:10531147 PMID:20846430 More...
RGD:5128498 , RGD:5128481 , RGD:5128476
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
RGD
PMID:10486281
RGD:1582334
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Jak2
Janus kinase 2
susceptibility
IMP
associated with Myocardial Reperfusion Injury
RGD
PMID:22749532
RGD:10403083
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kcnj2
potassium inwardly-rectifying channel, subfamily J, member 2
treatment
IDA
RGD
PMID:23647964
RGD:7247426
NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445
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Kcnk2
potassium two pore domain channel subfamily K member 2
IEP
mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat)
RGD
PMID:21683547
RGD:9831182
NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
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Kcnn4
potassium calcium-activated channel subfamily N member 4
susceptibility
ISO
DNA:SNPs,haplotypes:introns:multiple
RGD
PMID:19644414
RGD:329969896
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Kdm5b
lysine demethylase 5B
ameliorates
ISO
RGD
PMID:36481938
RGD:329901769
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Kdm6a
lysine demethylase 6A
IEP
mRNA:increased expression:myocardium (rat)
RGD
PMID:30887465
RGD:151665136
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kdr
kinase insert domain receptor
treatment
ISO IDA
RGD
PMID:16698275 PMID:25936512
RGD:1581717 , RGD:126925214
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kif6
kinesin family member 6
no_association treatment
ISO
DNA:SNP: :rs20455 (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :p.W719R (rs20455) (human)
CTD RGD
PMID:21943003 PMID:18222354 PMID:20927332 PMID:26997531 PMID:19371834 PMID:20403483 More...
RGD:243048446 , RGD:243048450 , RGD:243048449 , RGD:243048447 , RGD:11097528
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
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Klf13
KLF transcription factor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29122578
NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
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Klk1
kallikrein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12411458
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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Klk1c12
kallikrein 1-related peptidase C12
ISO
RGD
PMID:17022964
RGD:1641799
NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
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Lamp2
lysosomal-associated membrane protein 2
IEP
mRNA:increased expression:plantaris
RGD
PMID:24427319
RGD:11557988
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lcat
lecithin cholesterol acyltransferase
IDA
RGD
PMID:16640830
RGD:1581773
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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Lcn2
lipocalin 2
ameliorates
ISO
RGD
PMID:27800610
RGD:126790572
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Ldha
lactate dehydrogenase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3279722
NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
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Ldlr
low density lipoprotein receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lefty1
left right determination factor 1
ameliorates
ISO
RGD
PMID:33409963
RGD:401794430
NCBI chr13:92,649,226...92,659,722
Ensembl chr13:92,656,323...92,659,720
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Lgals2
galectin 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
OMIM CTD ClinVar RGD
PMID:15129282 PMID:15129282
RGD:1581852
NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29769800
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lipg
lipase G, endothelial type
susceptibility
ISO
DNA:polymorphism: :584C>T
RGD
PMID:17526978
RGD:1641818
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
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Lox
lysyl oxidase
ISO
RGD
PMID:14553832
RGD:1581883
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Lpl
lipoprotein lipase
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human)
RGD
PMID:18823627
RGD:2313302
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Lrp1
LDL receptor related protein 1
susceptibility
ISO
RGD
PMID:12402342
RGD:1581913
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Lrp8
LDL receptor related protein 8
no_association susceptibility onset
ISO
DNA:missense mutation:cds:p.R952Q (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1
CTD OMIM ClinVar RGD
PMID:17847002 PMID:18592168 PMID:17847002
RGD:2306125 , RGD:2306124
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
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Lrpap1
LDL receptor related protein associated protein 1
susceptibility
ISO
RGD
PMID:12394648
RGD:1581922
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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Lta
lymphotoxin alpha
no_association susceptibility severity
ISO
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNP:exon:804C>A (p.T26N) (human)
ClinVar OMIM CTD RGD
PMID:12426569 PMID:12746914 PMID:14681301 PMID:15129282 PMID:15266304 PMID:25741868 PMID:15175864 PMID:23398946 PMID:12426569 More...
RGD:1581940 , RGD:8548841 , RGD:1580417
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
IEP
RGD
PMID:20079142
RGD:11561913
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Map3k5
mitogen-activated protein kinase kinase kinase 5
treatment
IMP
RGD
PMID:22635076
RGD:10412335
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IEP
mRNA, protein:increased expression:myocardium (rat)
RGD
PMID:16183734 PMID:27121011
RGD:2298758 , RGD:11073666
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mapk1
mitogen activated protein kinase 1
IDA
RGD
PMID:15653762
RGD:1582282
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk14
mitogen activated protein kinase 14
ameliorates
ISO
RGD
PMID:33409963
RGD:401794430
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mapk8
mitogen-activated protein kinase 8
ameliorates
IEP
RGD
PMID:28622474
RGD:329333030
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mdh2
malate dehydrogenase 2
IDA
RGD
PMID:9753871
RGD:1582468
NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
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Mdk
midkine
IEP
RGD
PMID:9568069
RGD:1582488
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Mef2a
myocyte enhancer factor 2a
ISO
RGD
PMID:15811259
RGD:1580548
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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Mef2c
myocyte enhancer factor 2C
treatment
IMP
RGD
PMID:23948075
RGD:7327215
NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
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Meox2
mesenchyme homeobox 2
IEP
protein:decreased expression:heart (rat)
RGD
PMID:24155330
RGD:155882536
NCBI chr 6:53,856,760...53,917,467
Ensembl chr 6:53,856,758...53,917,467
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Mesp1
mesoderm posterior bHLH transcription factor 1
treatment
ISO
human gene and cell line in a rat model
RGD
PMID:32550911
RGD:242905196
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
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Mff
mitochondrial fission factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23867156 PMID:23867156
RGD:12879458
NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:20886221
RGD:12738232
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mgp
matrix Gla protein
susceptibility
ISO
RGD
PMID:11073842
RGD:1582503
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Mia3
MIA SH3 domain ER export factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198609
NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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Miat
myocardial infarction associated transcript
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:17066261
NCBI chr12:44,414,620...44,429,852
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Mif
macrophage migration inhibitory factor
ISO IEP
protein:increased expression:plasma mRNA, protein:increased expression:myocardium
RGD
PMID:11589847 PMID:12704210
RGD:1642008 , RGD:1642003
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29122578
NCBI chr11:16,245,620...16,245,707
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Mir143
microRNA 143
ISO IEP
RNA:increased expression:myocardium: RNA:increased expression:plasma, left ventricle:
RGD
PMID:28887629 PMID:29728596
RGD:155882580 , RGD:155882581
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
treatment ameliorates
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29956747 PMID:30146700 PMID:32890431
RGD:155260296 , RGD:155260294
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:31207208
RGD:21066347
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir208a
microRNA 208a
treatment
ISO IEP
miRNA:increased expression:heart
RGD
PMID:26688617 PMID:26861724
RGD:11536862 , RGD:242905213
NCBI chr15:28,425,570...28,425,652
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Mir223
microRNA 223
IEP
RNA:increased expression:heart
RGD
PMID:29608885
RGD:21408565
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir25
microRNA 25
ISO
RNA:increased expression:myocardium:
RGD
PMID:28887629
RGD:155882580
NCBI chr12:17,042,932...17,043,015
Ensembl chr12:17,042,932...17,043,015
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Mir30a
microRNA 30a
treatment
IDA
RGD
PMID:29849775
RGD:35673318
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mir30c1
microRNA 30c-1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34217758
NCBI chr 5:134,349,237...134,349,325
Ensembl chr 5:134,349,237...134,349,325
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Mir30e
microRNA 30e
IEP
miRNA:decreased expression:heart (rat)
RGD
PMID:25950484
RGD:11541106
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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Mir320a
microRNA 320a
treatment
ISO
RGD
PMID:19380620
RGD:155882541
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24253456
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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Mir761
microRNA 761
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23867156
NCBI chr 5:123,776,534...123,776,609
Ensembl chr 5:123,776,534...123,776,609
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Mlxipl
MLX interacting protein-like
susceptibility
ISO
DNA:SNP:cd: C771G, p.Q241H (rs3812316) (human)
RGD
PMID:24448738
RGD:401799621
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mmp1
matrix metallopeptidase 1
susceptibility
ISO IEP IDA
protein:increased expression, increased activity:heart left ventricle (rat) human gene in rat model associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human)
RGD
PMID:15009768 PMID:8531210 PMID:11179039 PMID:19797822 PMID:16210545
RGD:1582535 , RGD:7207198 , RGD:7207136 , RGD:7207135 , RGD:1582520
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp13
matrix metallopeptidase 13
IDA
RGD
PMID:15782494
RGD:1582556
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp14
matrix metallopeptidase 14
IEP ISO
RGD
PMID:10773235 PMID:16461815
RGD:1582587 , RGD:1582569
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
IEP ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16310260 PMID:24358288 PMID:10773235 PMID:11179039
RGD:1582587 , RGD:7207136
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:15467919
RGD:1580551
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:16769909
RGD:1582373
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
susceptibility
ISO IEP IDA
protein:increased expression:coronary artery, plasma (human) 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)
CTD RGD
PMID:16310260 PMID:24358288 PMID:15118287 PMID:25520329 PMID:8531210 PMID:17893005 PMID:14729404 PMID:16845718 More...
RGD:1582645 , RGD:13204799 , RGD:7207198 , RGD:7207049 , RGD:1582639 , RGD:1582653
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mstn
myostatin
ISO
mRNA:decreased expression:myocardium (mouse)
RGD
PMID:32427381
RGD:329849118
NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
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Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:missense mutation: :m.5178C>A (p.L237M) (human)
RGD
PMID:15262184
RGD:1581054
NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) DNA:SNP: :677C>T (human)
RGD
PMID:19272686 PMID:10090925
RGD:6893548 , RGD:10449412
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtor
mechanistic target of rapamycin kinase
treatment
IDA
protein:decreased serine phosphorylation:heart associated with Diabetes Mellitus, Experimental
RGD
PMID:20352476 PMID:23773982
RGD:10041035 , RGD:10041040
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myh6
myosin heavy chain 6
IEP
RGD
PMID:15090263
RGD:11565830
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11743230 PMID:15090263
RGD:11565830
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Ncam1
neural cell adhesion molecule 1
ISO IEP
mRNA, protein:increased expression:heart protein:alternative form, increased expression:myocardium
RGD
PMID:19853610 PMID:23462508
RGD:2325979 , RGD:40924663
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Ndufb5
NADH:ubiquinone oxidoreductase subunit B5
treatment
ISO
RGD
PMID:24692845
RGD:13801194
NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA ISO
RGD
PMID:23290949 PMID:24915518
RGD:10412734 , RGD:10412738
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkbia
NFKB inhibitor alpha
treatment
IEP
RGD
PMID:19616538
RGD:10413879
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Ngf
nerve growth factor
treatment
ISO
protein:increased expression:myocardium
RGD
PMID:20360245 PMID:20360245
RGD:405100231 , RGD:405100231
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nlk
nemo like kinase
IEP
mRNA, protein:decreased expression:heart
RGD
PMID:26861724
RGD:242905213
NCBI chr10:63,467,388...63,590,960
Ensembl chr10:63,438,222...63,589,730
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Nlrp3
NLR family, pyrin domain containing 3
ameliorates
IEP
RGD
PMID:33389498
RGD:242905187
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nono
non-POU domain containing, octamer-binding
ameliorates
ISO
RGD
PMID:35247074
RGD:155882458
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Nos2
nitric oxide synthase 2
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10090345 PMID:11489778 PMID:26192027
RGD:329970290
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
susceptibility treatment
ISO IEP IDA
DNA:repeats:intron protein:decreased expression:aorta (rat) CTD Direct Evidence: marker/mechanism human gene in rat model DNA:duplication:intron:IVS4?-?+27 (human)
CTD RGD
PMID:10510054 PMID:16337503 PMID:10531147 PMID:29311930 PMID:28980197 PMID:22012955 PMID:17637430 PMID:11903359 PMID:12362496 More...
RGD:5128481 , RGD:13503346 , RGD:13450930 , RGD:7771563 , RGD:7771561 , RGD:1580284 , RGD:1580283
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Npm1
nucleophosmin 1
ISO
protein:increased expression:cardiomyocyte:
RGD
PMID:21444791
RGD:11535018
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nppa
natriuretic peptide A
ISO IEP
DNA:snp:cds:c.2238T>C (human) CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:9527094 PMID:11743230 PMID:12514664 PMID:16087130
RGD:1579982 , RGD:1580000
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
IMP ISO IEP
RGD
PMID:19858735 PMID:17639095 PMID:17256064
RGD:2324680 , RGD:7247724 , RGD:1642266
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Npr1
natriuretic peptide receptor 1
susceptibility
ISO
DNA:missense mutation:cds:p.M341I (human)
RGD
PMID:14646971
RGD:1580174
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
susceptibility
ISO
DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)
RGD
PMID:21903943
RGD:401842365
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16413583 PMID:17587755
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Nrg1
neuregulin 1
treatment
ISO IEP
RGD
PMID:24200746 PMID:26892146 PMID:27993643
RGD:10449026 , RGD:11522702 , RGD:405145704
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrip1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Olr1
oxidized low density lipoprotein receptor 1
susceptibility
ISO
DNA:missense mutation:cds:p.K167N (human) ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:12646194 PMID:12810610 PMID:14684693 PMID:25741868 PMID:12646194
RGD:1580996
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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Opa1
OPA1, mitochondrial dynamin like GTPase
treatment
IEP
RGD
PMID:20886221
RGD:12738232
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Oprd1
opioid receptor, delta 1
IDA IMP
RGD
PMID:12798419 PMID:15076225
RGD:2316587 , RGD:9831425
NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960
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Oprk1
opioid receptor, kappa 1
IMP
RGD
PMID:15076225
RGD:9831425
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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P2ry12
purinergic receptor P2Y12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19334620
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Pappa
pappalysin
susceptibility
ISO
DNA:polymorphism:intron CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11586954 PMID:17700210
RGD:1642324
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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Parp1
poly (ADP-ribose) polymerase 1
ISO
protein:altered processing:left ventricle (mouse)
RGD
PMID:21282286
RGD:5684012
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
DNA:SNP:intron: (rs6080699) (human)
RGD
PMID:20036365
RGD:6483554
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
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Pde3a
phosphodiesterase 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19027736
NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:17339532
RGD:2314468
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Pdgfd
platelet derived growth factor D
IEP
mRNA,protein:altered expression:myocardium:
RGD
PMID:21767547
RGD:9854703
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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Pebp1
phosphatidylethanolamine binding protein 1
IEP
protein:decreased expression:right heart ventricle, ventricular septum
RGD
PMID:17089028
RGD:2302667
NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
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Pecam1
platelet and endothelial cell adhesion molecule 1
onset no_association
ISO
DNA:polymorphisms: :p.N563S, p.G670R (human) DNA:missense mutation:cds:p.R643G (human) DNA:missense mutations:cds:p.L125V, p.S563N (human)
RGD
PMID:11795274 PMID:15488875 PMID:15265022
RGD:2311656 , RGD:6771224 , RGD:1581009
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pgf
placental growth factor
ISO IMP
RGD
PMID:20649603 PMID:21329947 PMID:22114497
RGD:6483584 , RGD:6483777 , RGD:6483773
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Phactr1
phosphatase and actin regulator 1
susceptibility severity no_association
ISO IEP
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)
CTD RGD
PMID:19198609 PMID:26098115 PMID:25738804 PMID:25838425 PMID:26086777 PMID:33460763 PMID:33460763 PMID:19198609 PMID:26098115 More...
RGD:11052994 , RGD:11052493 , RGD:11056926 , RGD:401900171 , RGD:401900171 , RGD:401851907 , RGD:11053274
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Phlda3
pleckstrin homology-like domain, family A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34351043
NCBI chr13:47,193,250...47,196,335
Ensembl chr13:47,193,086...47,196,335
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:20056919
RGD:6482688
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Pla2g7
phospholipase A2 group VII
ISO
protein:decreased expression:serum
RGD
PMID:19644070
RGD:6482786
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plat
plasminogen activator, tissue type
treatment
ISO
DNA:snp:enhancer:g.-7351C>T (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:1430592 PMID:1492007 PMID:1898952 PMID:1899364 PMID:1900011 PMID:2104561 PMID:2105625 PMID:2494454 PMID:2505604 PMID:2521976 PMID:3089627 PMID:3121335 PMID:7488445 PMID:7723950 PMID:7775709 PMID:7902905 PMID:8328192 PMID:8554022 PMID:8598594 PMID:9183334 PMID:10171637 PMID:10505926 PMID:10645301 PMID:10914357 PMID:11382373 PMID:11489769 PMID:12074692 PMID:12227717 PMID:12848087 PMID:15215796 PMID:15301905 PMID:18195371 PMID:19341228 PMID:20122609 PMID:11848437 PMID:7994806 More...
RGD:1580881 , RGD:11541077
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO IEP
DNA:SNP:3' utr:c.*141C>T (rs4065) (human) CTD Direct Evidence: marker/mechanism|therapeutic mRNA, protein:increased expression:myocardium
CTD RGD
PMID:1908371 PMID:2174952 PMID:2382605 PMID:3068399 PMID:3984876 PMID:8416330 PMID:20518747 PMID:17653104 PMID:20952728 More...
RGD:6484126 , RGD:6484145 , RGD:6484133
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plaur
plasminogen activator, urokinase receptor
ISO IEP
mRNA, protein:increased expression:myocardium
RGD
PMID:12393744 PMID:20952728
RGD:1580897 , RGD:6484133
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Plcb1
phospholipase C beta 1
IEP
protein:increased expression:heart
RGD
PMID:9521338
RGD:2314514
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Plcb3
phospholipase C beta 3
IEP
protein:increased expression:heart
RGD
PMID:9521338
RGD:2314514
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
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Pln
phospholamban
treatment
IDA IEP ISO
protein:decreased expression:heart left ventricle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16026515 PMID:16162791 PMID:23781262 PMID:26067684
RGD:7327176 , RGD:11097969
NCBI chr20:32,629,537...32,639,559
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Pon1
paraoxonase 1
ISO
RGD
PMID:10978258 PMID:10610741
RGD:1580202 , RGD:1580198
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Postn
periostin
IEP
protein:increased expression:heart:
RGD
PMID:24212842
RGD:10041024
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppara
peroxisome proliferator activated receptor alpha
ISO
DNA:SNP:intron:rs4253623, minor allele associated with increased risk (human)
RGD
PMID:18549840
RGD:5562819
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppargc1a
PPARG coactivator 1 alpha
IEP ISO
protein:decreased expression:heart (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22503866 PMID:22503866 PMID:22087236
RGD:7242181 , RGD:6484266
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: therapeutic RNA:decreased expression:myocardium:
CTD RGD
PMID:16782078 PMID:28887629
RGD:155882580
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Prkd1
protein kinase D1
treatment
IEP
RGD
PMID:26064267
RGD:289474908
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:10936861
RGD:11100014
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Psma6
proteasome 20S subunit alpha 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myocardial infarction, susceptibility to
CTD ClinVar OMIM
PMID:16845397 PMID:19282875 PMID:25741868
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
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Ptgis
prostaglandin I2 synthase
susceptibility
ISO
DNA:SNP::1117C>A (human) DNA:silent mutation:exon 8:1117C>A (human) DNA:SNP:CDS: (rs5629) (human)
RGD
PMID:19040046 PMID:12040339 PMID:19327107 PMID:19046748
RGD:401901147 , RGD:401901268 , RGD:401901155 , RGD:2313891
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:15138244
RGD:1581289
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptn
pleiotrophin
IEP
protein:increased expression:myocardium (rat)
RGD
PMID:17925408
RGD:10044023
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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Rad50
RAD50 double strand break repair protein
treatment
IDA
RGD
PMID:15623426
RGD:9831390
NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
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Ranbp1
RAN binding protein 1
IEP
protein:decreased expression:heart ventricle, cytoplasm (rat)
RGD
PMID:25341891
RGD:9835001
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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Rbp4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:25142320
RGD:329845867
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Reg1a
regenerating family member 1 alpha
IEP
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:15778284
RGD:9850130
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Ren
renin
susceptibility
ISO
associated with Hypertension; protein:increased activity:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1668233 PMID:1759997
RGD:6892687
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Retn
resistin
ISO
protein:increased expression:plasma
RGD
PMID:18997620
RGD:7207152
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased threonine phosphorylation:heart left ventricle
RGD
PMID:16540832
RGD:1642998
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Ryr1
ryanodine receptor 1
IDA
protein:hyperphosphorylation:extensor digitorum longus:
RGD
PMID:12824280
RGD:329813076
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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S100b
S100 calcium binding protein B
IEP ISO
mRNA, protein:increased expression:left ventricle myocardium, plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9788975 PMID:19910580
RGD:2325647
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Sdc1
syndecan 1
IEP
mRNA:increased expression:myocardium
RGD
PMID:9237025
RGD:2311712
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Sdc4
syndecan 4
ISO
protein:increased expression:plasma
RGD
PMID:11372670
RGD:2312328
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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Sell
selectin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10070497
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Selp
selectin P
susceptibility
ISO IEP
associated with Hypertension;protein:increased expression:plasma protein:increased expression:serum DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human)
RGD
PMID:17391113 PMID:21162967 PMID:21567088 PMID:12165563
RGD:2312304 , RGD:6219003 , RGD:6218991 , RGD:1580075
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpine1
serpin family E member 1
susceptibility
ISO IMP
DNA:deletion:promoter:g.-676_-674delG (human)
RGD
PMID:12477941 PMID:16053971
RGD:1626626 , RGD:8547882
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sfrp2
secreted frizzled-related protein 2
IEP ISO
RGD
PMID:19109969 PMID:19079247
RGD:4107088 , RGD:155883169
NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Shh
sonic hedgehog signaling molecule
treatment
IMP
RGD
PMID:20052412
RGD:12879408
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Sirt1
sirtuin 1
IEP
protein:altered localization:nucleus
RGD
PMID:20089851
RGD:2316169
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt3
sirtuin 3
treatment
IEP
RGD
PMID:24471974
RGD:9586050
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Slc27a1
solute carrier family 27 member 1
IEP
protein:decreased expression:infarcted heart
RGD
PMID:17034771
RGD:1642800
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
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Slc27a6
solute carrier family 27 member 6
IEP
protein:decreased expression:heart
RGD
PMID:17034771
RGD:1642800
NCBI chr18:52,040,241...52,099,622
Ensembl chr18:52,041,074...52,099,414
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Slpi
secretory leukocyte peptidase inhibitor
treatment
IEP
RGD
PMID:23361363
RGD:9999400
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Smad2
SMAD family member 2
treatment ameliorates
IEP ISO
RGD
PMID:11087260 PMID:33409963
RGD:12903276 , RGD:401794430
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Smad3
SMAD family member 3
ameliorates
ISO
RGD
PMID:33409963
RGD:401794430
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad4
SMAD family member 4
treatment
IEP
RGD
PMID:11087260
RGD:12903276
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Socs1
suppressor of cytokine signaling 1
IEP
protein:increased expression:heart
RGD
PMID:16377761
RGD:2298918
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sod1
superoxide dismutase 1
treatment
ISO
CTD Direct Evidence: therapeutic human gene in a rat model
CTD RGD
PMID:21600015 PMID:11864929 PMID:22006090
RGD:1581222 , RGD:8655953
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
IDA ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:12160945 PMID:14575298 PMID:9250167
RGD:1581148 , RGD:1580839
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
RGD
PMID:14592844
RGD:1580841
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sparc
secreted protein acidic and cysteine rich
IEP
mRNA:increased expression:heart
RGD
PMID:12826287
RGD:2300056
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:12939547 PMID:14500723
RGD:1581386 , RGD:1581325
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Srsf1
serine and arginine rich splicing factor 1
treatment
IDA
protein:increased phosphorylation:heart left ventricle(rat)
RGD
PMID:26067684
RGD:11097969
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Tbx3
T-box transcription factor 3
IEP
RGD
PMID:19341743
RGD:5132891
NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
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Tbx5
T-box transcription factor 5
treatment
IMP
RGD
PMID:23948075
RGD:7327215
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tek
TEK receptor tyrosine kinase
IEP
protein:increased expression:ventricle myocardium
RGD
PMID:16714360
RGD:1601493
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tfpi
tissue factor pathway inhibitor
treatment
ISO IEP
mRNA,protein:increased expression:heart:
RGD
PMID:15630488 PMID:21229253 PMID:14656922
RGD:11060131 , RGD:11062083 , RGD:11060139
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tgfb1
transforming growth factor, beta 1
susceptibility
ISO IEP
associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human) CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart:
CTD RGD
PMID:16310260 PMID:16543493 PMID:27121011 PMID:15118671
RGD:1601560 , RGD:11073666 , RGD:1331525
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfb2
transforming growth factor, beta 2
IEP
RGD
PMID:14575314
RGD:2302107
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfbr1
transforming growth factor, beta receptor 1
IEP
RGD
PMID:10198196
RGD:1601617
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
protein:increased expression:myocardium
RGD
PMID:10198196
RGD:1601617
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Th
tyrosine hydroxylase
no_association
ISO
DNA:polymorphism:intron:g.1170_1173dupTCAT (human)
RGD
PMID:16139102
RGD:1580048
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9843165 PMID:10627464
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thbs1
thrombospondin 1
IEP
mRNA, protein:increased expression:myocardium
RGD
PMID:16179730
RGD:2317960
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24358288
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tlr4
toll-like receptor 4
ISO
DNA:SNP:intron:rs1927911, minor allele associated with decreased risk (human)
RGD
PMID:15864121 PMID:18549840
RGD:1580734 , RGD:5562819
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tm6sf2
transmembrane 6 superfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24633158
NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
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Tnc
tenascin C
IEP
protein:increased expression:heart, fibroblast
RGD
PMID:11454990
RGD:4889618
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
IEP ISO
mRNA, protein:increased expression:left ventricle myocardium, plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15883752 PMID:16310260 PMID:21362018
RGD:5130892
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
RGD
PMID:15926884
RGD:1620893
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf12a
TNF receptor superfamily member 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20082609
NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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Tnfrsf14
TNF receptor superfamily member 14
IEP
protein:increased expression:heart, cardiomyocyte, endothelial cell (rat)
RGD
PMID:18353719
RGD:2317281
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf1a
TNF receptor superfamily member 1A
IEP IMP IDA
mRNA, protein:increased expression:left ventricle myocardium (rat)
RGD
PMID:21362018 PMID:20651834 PMID:15117889
RGD:5130892 , RGD:5130975 , RGD:1624194
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
IEP
mRNA, protein:decreased expression:left ventricle myocardium (rat)
RGD
PMID:21362018
RGD:5130892
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf11
TNF superfamily member 11
ISO
protein:increased expression:serum
RGD
PMID:18298349
RGD:2302363
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Tnfsf4
TNF superfamily member 4
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:15750594
RGD:1580396
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Tnni3
troponin I3, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359538
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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Tnnt2
troponin T2, cardiac type
ISO
RGD
PMID:15226628
RGD:1580441
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24358288
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates disease_progression
ISO IMP
RGD
PMID:25840803 PMID:25840803 PMID:25840803
RGD:127284842 , RGD:127284842 , RGD:127284842
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
IMP
RGD
PMID:27671317
RGD:13792689
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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Trpv1em1Sage
transient receptor potential cation channel, subfamily V, member 1; ZFN induced mutant 1, Sage
IMP
RGD
PMID:27671317
RGD:13792689
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Ttn
titin
IEP
RGD
PMID:12221049
RGD:1580780
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Txn1
thioredoxin 1
ISO
RGD
PMID:14677813
RGD:1580785
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Txnrd1
thioredoxin reductase 1
IEP
mRNA:decreased expression:heart left ventricle (rat)
RGD
PMID:18515646
RGD:5134341
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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Ubd
ubiquitin D
IEP IMP
mRNA, protein; increased expression; myocardium (rat) associated with induced myocardial infarction
RGD
PMID:29438664 PMID:29438664
RGD:126925221 , RGD:126925221
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ubdem1
ubiquitin D; CRISPR/Cas9 induced mutant1
IMP
associated with induced myocardial infarction
RGD
PMID:29438664
RGD:126925221
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Uts2
urotensin 2
IEP
associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle
RGD
PMID:15549273
RGD:2306846
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Uts2r
urotensin 2 receptor
IEP
associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle
RGD
PMID:15549273
RGD:2306846
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
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Vcan
versican
IEP
RGD
PMID:16311904
RGD:1598497
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Vdac1
voltage-dependent anion channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25488258
NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
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Vdac2
voltage-dependent anion channel 2
treatment
IDA
RGD
PMID:20601275
RGD:10003049
NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
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Vegfa
vascular endothelial growth factor A
treatment
ISO IDA
protein:increased expression:serum,platelet:
RGD
PMID:10652191 PMID:25936512
RGD:7483604 , RGD:126925214
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfb
vascular endothelial growth factor B
ISO
RGD
PMID:17975666
RGD:2314324
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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Vwf
von Willebrand factor
IEP
protein:increased expression:heart:
RGD
PMID:19435557
RGD:11080745
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wdr12
WD repeat domain 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198609 PMID:25915632
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Wrn
WRN RecQ like helicase
ISO
RGD
PMID:9021029
RGD:1580821
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:polymorphism:: (human)
RGD
PMID:18712175
RGD:401827276
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Ybx1
Y box binding protein 1
IEP
RGD
PMID:16002047
RGD:1580630
NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862
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Zeb2
zinc finger E-box binding homeobox 2
IEP
protein:increased expression:heart (rat)
RGD
PMID:24155330
RGD:155882536
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16317512
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11927517
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pln
phospholamban
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16317512
NCBI chr20:32,629,537...32,639,559
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11927517
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16824628
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16824628
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Jup
junction plakoglobin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16824628
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:plasma
RGD
PMID:9415270
RGD:8547713
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
RGD
PMID:11984590
RGD:1581700
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:SNPs: :rs1045642,rs7779562(human)
RGD
PMID:25217066
RGD:14700903
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Atp5mc2
ATP synthase membrane subunit c locus 2
severity
ISO
RGD
PMID:27441480
RGD:14696800
NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733
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Ccn1
cellular communication network factor 1
sexual_dimorphism
ISO
protein:increased expression:blood serum (human)
RGD
PMID:34597881
RGD:329845519
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29769800
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Mir208a
microRNA 208a
severity
IEP
miRNA:increased expression:blood
RGD
PMID:32458401
RGD:213230165
NCBI chr15:28,425,570...28,425,652
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