RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Acute Coronary Syndrome
Accession: DOID:9001686
browse the term
Definition: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
Synonyms: exact_synonym: acute coronary syndromes
related_synonym: factor XII polymorphism
primary_id: MESH:D054058
xref: EFO:0005672
GViewer not supported for the selected species.
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Actg1
actin gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105
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Ager
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:21663912
RGD:5508825
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Alb
albumin
treatment
ISO
RGD
PMID:20716836
RGD:11036086
NCBI chrNW_004955447:9,327...21,212
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Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955413:11,670,889...11,688,357
Ensembl chrNW_004955413:11,670,687...11,688,611
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Capzb
capping actin protein of muscle Z-line subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955452:34,454...168,514
Ensembl chrNW_004955452:30,589...169,693
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Ccn1
cellular communication network factor 1
susceptibility
ISO
DNA:SNP,haplotypes:5'utr: (rs6576776) (human)
RGD
PMID:33906697
RGD:329845569
NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166
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Cd40
CD40 molecule
ISO
DNA:SNP:5' utr:rs1883832 (human)
RGD
PMID:21091218
RGD:5490523
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
treatment
ISO
associated with Anxiety Disorders;protein:increased expression:serum
RGD
PMID:20170788 PMID:31624788
RGD:21081509 RGD:5490548
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Ckb
creatine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chrNW_004955538:2,379,868...2,380,771
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Ckm
creatine kinase, M-type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chrNW_004955555:2,318,072...2,330,733
Ensembl chrNW_004955555:2,318,072...2,336,811
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM
ClinVar
PMID:9490684 PMID:11843842 PMID:20303064 PMID:24033266 PMID:25741868
NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21496882
RGD:5147784
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23305094
NCBI chrNW_004955506:1,063,002...1,079,939
Ensembl chrNW_004955506:1,063,002...1,079,939
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
susceptibility
ISO
DNA:SNP: :rs17817449 (human)
RGD
PMID:20362563
RGD:329813083
NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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Gch1
GTP cyclohydrolase 1
ISO
DNa:SNP: :rs3783637 (human)
RGD
PMID:26232608
RGD:329961571
NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
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Gpx1
glutathione peroxidase 1
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chrNW_004955532:1,298,336...1,298,830
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Gpx3
glutathione peroxidase 3
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Gpx4
glutathione peroxidase 4
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
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Il6
interleukin 6
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human)
CTD RGD
PMID:23305094 PMID:32178736
RGD:155230830
NCBI chrNW_004955410:25,079,835...25,084,390
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15840736
NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955413:17,264,337...17,283,530
Ensembl chrNW_004955413:17,261,118...17,283,593
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LOC102029877
tubulin alpha-1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955500:8,083,239...8,092,137
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20981132
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP,haplotype: :p.S326C (rs1052133) (human)
RGD
PMID:23368530
RGD:401827273
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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Pappa
pappalysin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11586954
NCBI chrNW_004955419:11,415,666...11,645,994
Ensembl chrNW_004955419:11,420,638...11,646,145
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Pdia3
protein disulfide isomerase family A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:coronary artery, intima (human)
RGD
PMID:22336504
RGD:6767292
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Phactr1
phosphatase and actin regulator 1
exacerbates
ISO
protein:increased expression:monocyte (human)
RGD
PMID:32857129
RGD:401900689
NCBI chrNW_004955465:1,395,418...1,915,820
Ensembl chrNW_004955465:1,395,088...1,913,847
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:22024276
RGD:6482773
NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26241956
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Psmb1
proteasome 20S subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955411:3,285,610...3,304,210
Ensembl chrNW_004955411:3,286,835...3,304,931
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Rab7b
RAB7B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955406:41,615,302...41,638,157
Ensembl chrNW_004955406:41,615,302...41,638,151
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Rbp4
retinol binding protein 4
onset severity
ISO
protein:increased expression:blood serum (human) protein:increased expression:blood plasma (human)
RGD
PMID:25437889 PMID:32449048
RGD:329845573 RGD:329845576
NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:21663912
RGD:5508825
NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7923645
NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tlr4
toll like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20981132
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnf
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human)
CTD RGD
PMID:20981132 PMID:32178736
RGD:155230830
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnni3
troponin I3, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955524:1,419,061...1,432,114
Ensembl chrNW_004955524:1,415,848...1,432,139
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Tubb1
tubulin beta 1 class VI
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955445:569,504...576,129
Ensembl chrNW_004955445:569,504...576,345
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Vcl
vinculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
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