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
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Actg1
actin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:21663912
RGD:5508825
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Alb
albumin
treatment
ISO
RGD
PMID:20716836
RGD:11036086
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 4:171,554,139...171,573,057
Ensembl chr 4:169,822,952...169,841,658
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Capzb
capping actin protein of muscle Z-line subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 5:156,718,619...156,818,623
Ensembl chr 5:151,434,871...151,535,409
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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 chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484
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Cd40
CD40 molecule
ISO
DNA:SNP:5' utr:rs1883832 (human)
RGD
PMID:21091218
RGD:5490523
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
associated with Anxiety Disorders;protein:increased expression:serum
RGD
PMID:20170788 PMID:31624788
RGD:5490548 , RGD:21081509
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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Ckb
creatine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:130,729,423...130,732,315
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Ckm
creatine kinase, M-type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chr 1:88,189,382...88,199,717
Ensembl chr 1:79,061,456...79,071,720
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Crp
C-reactive protein
ISO
protein:increased expression: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15966572 PMID:23305094 PMID:18973750 PMID:21794939
RGD:6907401 , RGD:9491837
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:SNPs::CYP2C19*2 (681G>A,rs4244285), CYP2C19*17 (-806C>T, rs12248560) (human) ClinVar Annotator: match by term: Acute coronary syndrome
ClinVar RGD
PMID:7969038 PMID:9093256 PMID:19444287 PMID:21270786 PMID:27441996 PMID:34384383 More...
RGD:401960861
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21496882
RGD:5147784
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23305094
NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,072,091...106,090,261
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
susceptibility
ISO
DNA:SNP: :rs17817449 (human)
RGD
PMID:20362563
RGD:329813083
NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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Gch1
GTP cyclohydrolase 1
ISO
DNa:SNP: :rs3783637 (human)
RGD
PMID:26232608
RGD:329961571
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
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Gp6
glycoprotein VI
disease_progression
ISO
protein:increased expression:platelet (human)
RGD
PMID:17340467 PMID:20071043
RGD:401794408 , RGD:401824680
NCBI chr 1:78,471,900...78,535,374
Ensembl chr 1:69,465,789...69,491,326
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Gpx1
glutathione peroxidase 1
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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Gpx4
glutathione peroxidase 4
ISO
mRNA, protein:increased expression:blood, plasma
RGD
PMID:28298473
RGD:401827171
NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:9,650,185...9,652,982
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:SNP: :190G>C(human)
RGD
PMID:21849784
RGD:7257650
NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662
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Il6
interleukin 6
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human)
CTD RGD
PMID:23305094 PMID:32178736 PMID:32178736
RGD:155230830 , RGD:155230830
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15840736
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 4:177,159,389...177,177,408
Ensembl chr 4:175,428,385...175,446,403
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Mir126a
microRNA 126a
ISO
RNA:decreased expression:plasma
RGD
PMID:27900989
RGD:401850572
NCBI chr 3:29,813,150...29,813,267
Ensembl chr 3:9,415,063...9,415,180
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Mir145
microRNA 145
disease_progression treatment
ISO IEP
RNA:decreased expression:blood serum (human)
RGD
PMID:32178736 PMID:32178736
RGD:155230830 , RGD:155230830
NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20981132
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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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 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Pappa
pappalysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11586954
NCBI chr 5:83,513,358...83,751,364
Ensembl chr 5:78,498,300...78,730,666
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Pdia3
protein disulfide isomerase family A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:108,388,245...108,413,236
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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 chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
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Phactr1
phosphatase and actin regulator 1
exacerbates
ISO
protein:increased expression:monocyte (human)
RGD
PMID:32857129
RGD:401900689
NCBI chr17:21,769,006...22,246,227
Ensembl chr17:21,562,721...22,039,831
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:22024276
RGD:6482773
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26241956
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Psmb1
proteasome 20S subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:56,420,618...56,463,560
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Rab7b
Rab7b, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr13:45,673,396...45,699,798
Ensembl chr13:43,121,226...43,147,581
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Rbp4
retinol binding protein 4
severity onset
ISO
protein:increased expression:blood plasma (human) protein:increased expression:blood serum (human)
RGD
PMID:25437889 PMID:32449048
RGD:329845573 , RGD:329845576
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:21663912
RGD:5508825
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7923645
NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20981132
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human)
CTD RGD
PMID:20981132 PMID:32178736 PMID:32178736
RGD:155230830 , RGD:155230830
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnni3
troponin I3, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15966572
NCBI chr13:49,819,123...49,837,125
Ensembl chr13:47,267,204...47,285,388
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr16:17,718,442...17,732,483
Ensembl chr16:17,683,195...17,705,984
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Tuba1c
tubulin, alpha 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:130,192,016...130,199,647 Ensembl chr X:130,192,016...130,199,647
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Tubb1
tubulin, beta 1 class VI
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr 3:183,666,189...183,675,656
Ensembl chr 3:163,247,967...163,256,063
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Vcl
vinculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr15:3,315,069...3,404,891
Ensembl chr15:3,265,815...3,355,606
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21751358
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
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