RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Coronary Disease |
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Accession: | DOID:9000528
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browse the term
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Definition: | An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
Synonyms: | exact_synonym: | CORONARY ARTERY DISEASE, EARLY-ONSET; Coronary Diseases; coronary heart disease; coronary heart diseases |
| narrow_synonym: | THREE VESSEL CORONARY DISEASE; chronic coronary heart disease |
| related_synonym: | CHDS1; CHDS2; CHDS3; CHDS4; CHDS5; CHDS6; CHDS7; CHDS8; CHDS9; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; Coronary artery disease, susceptibility to; Coronary heart disease in familial hypercholesterolemia, protection against |
| primary_id: | MESH:D003327 |
| alt_id: | OMIM:300464; OMIM:607339; OMIM:608316; OMIM:608318; OMIM:608901; OMIM:610938; OMIM:611139; OMIM:612030; OMIM:614466; RDO:0005276 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Coronary heart disease in familial hypercholesterolemia, protection against ClinVar Annotator: match by term: Early-onset coronary artery disease |
ClinVar |
PMID:11238261 PMID:12624133 PMID:16372134 PMID:16429166 |
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NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
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NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8170965, PMID:9488209 |
RGD:8142364 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ace2 |
angiotensin I converting enzyme 2 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :8790G>A (human) |
RGD |
PMID:18753062 |
RGD:2313798 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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Ada |
adenosine deaminase |
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ISO |
protein:increased expression:leukocyte |
RGD |
PMID:17259686 |
RGD:1624286 |
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:plasma (human) ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
PMID:25741868, PMID:12670342 |
RGD:10449044 |
NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Adamts7 |
ADAM metallopeptidase with thrombospondin type 1 motif, 7 |
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ISO |
ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
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NCBI chr 8:97,535,777...97,575,661
Ensembl chr 8:97,535,777...97,575,655
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Adipoq |
adiponectin, C1Q and collagen domain containing |
disease_progression |
ISO |
associated with Diabetes mellitus, Type2; |
RGD |
PMID:22207678, PMID:22019747 |
RGD:5686379, RGD:5686406 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
DNA:polymorphism: :p.Q27E |
RGD |
PMID:12682000 |
RGD:1601128 |
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Adrb3 |
adrenoceptor beta 3 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994(human) |
RGD GAD |
PMID:10421225, PMID:20536507, PMID:15118671 |
RGD:1559326, RGD:5684776, RGD:1331525 |
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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Ager |
advanced glycosylation end product-specific receptor |
susceptibility |
ISO |
protein:decreased expression:plasma (human) associated with Heart Failure; protein:increased expression:plasma (human) |
RGD |
PMID:23396398, PMID:20685687 |
RGD:7243186, RGD:7244134 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agtr1a |
angiotensin II receptor, type 1a |
susceptibility no_association |
ISO |
DNA:polymorphism:3' utr:1166A>C DNA:polymorphism:3' utr:1166A>C (human) |
RGD |
PMID:9456365, PMID:9857918 |
RGD:1601152, RGD:1566499 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Apoa4 |
apolipoprotein A4 |
susceptibility no_association |
ISO |
DNA:missense mutation:cds:p.T347S (human) |
RGD |
PMID:12676816, PMID:9013087 |
RGD:1578411, RGD:5685683 |
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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Apob |
apolipoprotein B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17658632 |
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NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Apoc2 |
apolipoprotein C2 |
susceptibility |
ISO |
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RGD |
PMID:7590197 |
RGD:1601205 |
NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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Apoc3 |
apolipoprotein C3 |
no_association susceptibility |
ISO |
DNA:polymorphism:promoter:-482C>T ClinVar Annotator: match by term: Coronary heart disease associated with Diabetes Mellitus, Non-Insulin-Dependent |
ClinVar |
PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 PMID:28406212, PMID:16321685, PMID:17654446 |
RGD:1601224, RGD:2306754 |
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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Apoe |
apolipoprotein E |
onset |
ISO |
DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10736278 PMID:11862316, PMID:11862316 |
RGD:1578479, RGD:1578479 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Ccdc92 |
coiled-coil domain containing 92 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr12:37,210,735...37,237,848
Ensembl chr12:37,211,316...37,237,848
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Ccr5 |
C-C motif chemokine receptor 5 |
resistance |
ISO |
DNA:polymorphisms:multiple (human) |
RGD |
PMID:16055130 |
RGD:1581176 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd14 |
CD14 molecule |
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ISO |
protein:increased expression:monocyte |
RGD |
PMID:10831941 |
RGD:2314175 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cd36 |
CD36 molecule |
susceptibility |
ISO |
mRNA:increased expression:monocyte CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:18067591 |
RGD:6893507 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40lg |
CD40 ligand |
treatment |
IDA |
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RGD |
PMID:23819214 |
RGD:7248750 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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ISO |
ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
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NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.V249I (human) ClinVar Annotator: match by term: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868, PMID:11532900 |
RGD:4891901 |
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
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RGD |
PMID:10488959 |
RGD:1580275 |
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
resistance |
ISO |
DNA:polymorphism:promoter:-50G>T (human) |
RGD |
PMID:17429317 |
RGD:1625377 |
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
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Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Ephx2 |
epoxide hydrolase 2 |
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ISO |
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RGD |
PMID:16595607 |
RGD:1580981 |
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
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Esr2 |
estrogen receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17367797 |
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NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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F12 |
coagulation factor XII |
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ISO |
protein:decreased activity:: |
RGD |
PMID:18021303 |
RGD:11041785 |
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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F13a1 |
coagulation factor XIII A1 chain |
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ISO |
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RGD |
PMID:11391716 |
RGD:1581030 |
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
associated with Diabetes Mellitus |
RGD |
PMID:15451784 |
RGD:2315870 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
mRNA, protein:increased expression:ventricle myocardium |
RGD |
PMID:16139132 |
RGD:2313728 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Ggt1 |
gamma-glutamyltransferase 1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum |
RGD |
PMID:16772340 |
RGD:2315604 |
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
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RGD |
PMID:14592833 |
RGD:1580433 |
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
disease_progression |
ISO |
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RGD |
PMID:15809366 |
RGD:5508474 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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Hmox1 |
heme oxygenase 1 |
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ISO |
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RGD |
PMID:15869055 |
RGD:1598404 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hnf1a |
HNF1 homeobox A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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Hp |
haptoglobin |
severity |
ISO |
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RGD |
PMID:16673012 |
RGD:1626344 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Hspa1a |
heat shock protein family A (Hsp70) member 1A |
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ISO |
DNA:SNPs: : -110A>C (rs1008438), 190G>C (rs1043618) (human) |
RGD |
PMID:19333379 |
RGD:7257652 |
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
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RGD |
PMID:12059985 |
RGD:1624217 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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Igf1 |
insulin-like growth factor 1 |
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ISO |
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RGD |
PMID:15521962 |
RGD:1626121 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
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RGD |
PMID:15521962 |
RGD:1626121 |
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
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RGD |
PMID:15521962 |
RGD:1626121 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Igfbp5 |
insulin-like growth factor binding protein 5 |
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ISO |
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RGD |
PMID:15521962 |
RGD:1626121 |
NCBI chr 9:80,154,230...80,166,813
Ensembl chr 9:80,150,211...80,167,033
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Il18 |
interleukin 18 |
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ISO |
ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
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NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b |
interleukin 1 beta |
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ISO |
DNA:polymorphism |
RGD |
PMID:15379752 |
RGD:1626636 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Irs1 |
insulin receptor substrate 1 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 PMID:10430617 PMID:10591678 PMID:10843189 PMID:12843189 PMID:14671192 PMID:14707024 PMID:15240653 PMID:28869590 |
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NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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Itga2 |
integrin subunit alpha 2 |
no_association |
ISO |
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RGD |
PMID:9684730 |
RGD:1582306 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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Itgb3 |
integrin subunit beta 3 |
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ISO |
DNA:polymorphism:exon |
RGD |
PMID:10583927 |
RGD:5128478 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Kalrn |
kalirin, RhoGEF kinase |
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ISO |
ClinVar Annotator: match by OMIM:608901 ClinVar Annotator: match by term: CORONARY ARTERY DISEASE, EARLY-ONSET |
ClinVar |
PMID:17357071 PMID:25741868 |
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NCBI chr11:69,484,293...70,025,682
Ensembl chr11:69,484,293...70,025,633
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Kat2b |
lysine acetyltransferase 2B |
severity |
ISO |
DNA:snp:promoter:g.-2481G>C (human) |
RGD |
PMID:21062767 |
RGD:9590309 |
NCBI chr 9:4,440,982...4,492,949
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Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
no_association |
ISO |
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RGD |
PMID:12964027 |
RGD:1581699 |
NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
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Kdr |
kinase insert domain receptor |
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ISO |
mRNA, protein:increased expression:ventricle myocardium |
RGD |
PMID:16139132 |
RGD:2313728 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Ldlr |
low density lipoprotein receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Three Vessel Coronary Disease ClinVar Annotator: match by term: Early-onset coronary artery disease |
CTD ClinVar |
PMID:9430375 PMID:9712531 PMID:10422804 PMID:11810272 PMID:11845603 PMID:17765246 PMID:19318025 PMID:20506408 PMID:21382890 PMID:21642693 PMID:23375686 PMID:24033266 PMID:25647241 PMID:25741868 PMID:28161202 PMID:28492532 PMID:28895539 PMID:29353225 |
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NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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Lgals2 |
galectin 2 |
susceptibility |
ISO |
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RGD |
PMID:17040205 |
RGD:1581853 |
NCBI chr 7:120,071,122...120,077,612
Ensembl chr 7:120,071,124...120,077,612
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Lipc |
lipase C, hepatic type |
susceptibility |
ISO |
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) |
RGD |
PMID:16570154 |
RGD:2308824 |
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Lpl |
lipoprotein lipase |
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IEP ISO |
ClinVar Annotator: match by term: Coronary heart disease |
ClinVar |
PMID:8199176 PMID:8541837 PMID:8872057 PMID:10364086 PMID:10517255 PMID:21146168 PMID:24033266, PMID:27000070 |
RGD:13794381 |
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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Lrp1 |
LDL receptor related protein 1 |
susceptibility |
ISO |
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RGD |
PMID:15121769 |
RGD:1581911 |
NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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Maco1 |
macoilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 5:153,122,780...153,184,940
Ensembl chr 5:153,122,781...153,184,940
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G |
Mb |
myoglobin |
severity |
ISO |
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RGD |
PMID:15976963 |
RGD:1582388 |
NCBI chr 7:118,101,633...118,108,864
Ensembl chr 7:118,101,634...118,108,864
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Mgp |
matrix Gla protein |
susceptibility |
ISO |
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RGD |
PMID:16973975 |
RGD:1582502 |
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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Mif |
macrophage migration inhibitory factor |
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IEP |
coronary occlusion; mRNA:increased expression:myocardium |
RGD |
PMID:20367970 |
RGD:4890973 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:14499230 |
RGD:1582537 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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G |
Mras |
muscle RAS oncogene homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16792904 |
|
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Mttp |
microsomal triglyceride transfer protein |
susceptibility |
ISO |
DNA:polymorphism:promoter:-493G>T |
RGD |
PMID:15136504 |
RGD:1625487 |
NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
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G |
Myh15 |
myosin, heavy chain 15 |
|
ISO |
DNA:snp:exon:EX28T>C rs3900940 (human) |
RGD |
PMID:18073581 |
RGD:2317145 |
NCBI chr11:54,205,771...54,344,662
Ensembl chr11:54,204,775...54,344,615
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|
G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
susceptibility |
ISO |
DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human) |
RGD |
PMID:16554528 |
RGD:1581000 |
NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Three Vessel Coronary Disease |
ClinVar |
PMID:8532023 |
|
NCBI chr10:94,850,971...94,913,202
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21356620, PMID:15699277 |
RGD:6482780 |
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1730212 PMID:9181759 |
|
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Pltp |
phospholipid transfer protein |
susceptibility |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14695459 |
RGD:1581038 |
NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
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|
G |
Pon1 |
paraoxonase 1 |
severity no_association |
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery disease, susceptibility to DNA:missense mutation:cds:p.Q192R (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) |
CTD ClinVar |
PMID:7916578 PMID:8098250 PMID:8675673 PMID:8770857 PMID:9011577 PMID:9215303 PMID:9385372 PMID:9443884 PMID:9661650 PMID:11238489 PMID:11335891 PMID:11788650 PMID:11810302 PMID:11888590 PMID:11889198 PMID:11918623 PMID:12082503 PMID:15241482 PMID:16353344 PMID:16882531 PMID:21170047, PMID:19005291, PMID:15214960, PMID:9215303 |
RGD:2313267, RGD:8547675, RGD:1580201 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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G |
Pon2 |
paraoxonase 2 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.C311S (human) |
RGD |
PMID:9443862 |
RGD:1580216 |
NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
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G |
Retn |
resistin |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:17175295 |
RGD:7207156 |
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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G |
Scarb1 |
scavenger receptor class B, member 1 |
|
ISO |
|
RGD |
PMID:15967843 |
RGD:1580004 |
NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
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G |
Selp |
selectin P |
|
ISO |
protein:altered expression:serum |
RGD |
PMID:11597943 |
RGD:1580074 |
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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|
G |
Serpinf2 |
serpin family F member 2 |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:15771120 |
RGD:1625529 |
NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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G |
Tcf7l2 |
transcription factor 7 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514 Ensembl chr 1:276,659,542...276,730,514
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease, susceptibility to |
ClinVar |
PMID:16890917 |
|
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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G |
Thbd |
thrombomodulin |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
RGD |
PMID:17200788 |
RGD:2312456 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA, protein:increased expression:ventricle myocardium |
RGD |
PMID:16139132 |
RGD:2313728 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16549638 |
|
NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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G |
Vwf |
von Willebrand factor |
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ISO |
|
RGD |
PMID:11864703 |
RGD:1580647 |
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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G |
Zc3hc1 |
zinc finger, C3HC-type containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 4:57,684,678...57,706,613
Ensembl chr 4:57,684,678...57,706,613
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G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:26476955 |
RGD:11552746 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
Cacng4 |
calcium voltage-gated channel auxiliary subunit gamma 4 |
|
ISO |
mRNA:decreased expression:blood: |
RGD |
PMID:27746059 |
RGD:13524557 |
NCBI chr10:95,954,160...96,015,484
Ensembl chr10:95,951,234...96,015,499
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:26550220 |
RGD:13782284 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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G |
Casp7 |
caspase 7 |
treatment |
IEP |
|
RGD |
PMID:26550220 |
RGD:13782284 |
NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
IEP |
|
RGD |
PMID:26591365 |
RGD:13792778 |
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
IEP |
|
RGD |
PMID:24837094 |
RGD:40813741 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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G |
Il33 |
interleukin 33 |
|
IEP |
|
RGD |
PMID:24837094 |
RGD:40813741 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Mir146a |
microRNA 146a |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:decreased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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G |
Mir21 |
microRNA 21 |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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G |
Mir223 |
microRNA 223 |
treatment |
IMP |
|
RGD |
PMID:29689569 |
RGD:25823140 |
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
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G |
Serping1 |
serpin family G member 1 |
|
ISO IEP |
mRNA:increased expression:heart |
RGD |
PMID:26476955, PMID:26476955 |
RGD:11552746, RGD:11552746 |
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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G |
Edn1 |
endothelin 1 |
|
ISO |
protein:increased expression:aortic root, coronary sinus, plasma (human) |
RGD |
PMID:12581682 |
RGD:8661757 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
F3 |
coagulation factor III, tissue factor |
|
IEP |
|
RGD |
PMID:9916935 |
RGD:11341701 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
|
RGD |
PMID:19213942 |
RGD:9854642 |
NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
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G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19337937 |
|
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1430592 |
|
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21062213 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum |
RGD |
PMID:22683371 |
RGD:8694456 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15548583 |
|
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18084290 |
|
NCBI chr 1:84,018,857...84,040,433
Ensembl chr 1:84,018,859...84,040,433
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G |
Mill1 |
MHC I like leukocyte 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10899738 |
|
NCBI chr 1:79,631,266...79,657,943
Ensembl chr 1:79,631,668...79,657,941
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G |
Mmp12 |
matrix metallopeptidase 12 |
susceptibility |
ISO |
|
RGD |
PMID:12103254 |
RGD:1582363 |
NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
|
ISO |
|
RGD GAD |
PMID:11086027, PMID:15118671 |
RGD:1600951, RGD:1331525 |
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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G |
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 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
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 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11099417 PMID:11138003 |
|
NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11099417 |
|
NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp |
RGD |
PMID:16195894 |
RGD:1601112 |
NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
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G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14989558, PMID:12975417, PMID:15118671 |
RGD:1566498, RGD:1331525 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Acp1 |
acid phosphatase 1 |
|
ISO |
|
RGD |
PMID:19246900 |
RGD:2313179 |
NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
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G |
Adamts7 |
ADAM metallopeptidase with thrombospondin type 1 motif, 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 8:97,535,777...97,575,661
Ensembl chr 8:97,535,777...97,575,655
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:decreased expression:adipose tissue |
RGD |
PMID:17878891 |
RGD:5686802 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
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 chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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G |
Adtrp |
androgen-dependent TFPI-regulating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378986 |
|
NCBI chr17:22,619,913...22,688,296
Ensembl chr17:22,619,891...22,688,307
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G |
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
Agt |
angiotensinogen |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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G |
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 chr11:81,711,269...81,717,594
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|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
|
RGD |
PMID:18054314 |
RGD:5509083 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
|
ISO |
DNA:snps:multiple (human) |
RGD |
PMID:19596330 |
RGD:2313883 |
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
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|
G |
Angptl4 |
angiopoietin-like 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27135400 |
|
NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
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|
G |
Anks1a |
ankyrin repeat and sterile alpha motif domain containing 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr20:7,484,550...7,636,498
Ensembl chr20:7,484,550...7,636,497
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G |
Apcs |
amyloid P component, serum |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12714198 |
|
NCBI chr13:91,426,621...91,427,417
Ensembl chr13:91,426,479...91,427,575
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|
G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
|
ISO |
DNA:SNP:CDS:p.F217L (rs1047552) (human) |
RGD |
PMID:18987747 |
RGD:13703124 |
NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27135400, PMID:2128269, PMID:15118671 |
RGD:1601188, RGD:1331525 |
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
|
|
G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:17923573 |
RGD:2313956 |
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
|
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G |
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 |
PMID:24097064, PMID:15177130, PMID:15306190 |
RGD:2313322, RGD:1578412 |
NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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|
G |
Apob |
apolipoprotein B |
no_association |
ISO |
|
RGD GAD |
PMID:9585673, PMID:15118671, PMID:1732399 |
RGD:1578418, RGD:1331525, RGD:1578417 |
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097064, PMID:14709372, PMID:15118671, PMID:15059615 |
RGD:1578443, RGD:1331525, RGD:1626412 |
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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|
G |
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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|
G |
Apom |
apolipoprotein M |
susceptibility |
ISO |
DNA:SNP:promoter:g.-778T>C(rs805296)(human) |
RGD |
PMID:17674965 |
RGD:2314241 |
NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
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|
G |
Ar |
androgen receptor |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
|
|
G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr 7:41,114,606...41,223,138
Ensembl chr 7:41,114,697...41,220,579
|
|
G |
Bche |
butyrylcholinesterase |
susceptibility |
ISO |
DNA:polymorphism: :p.A539T (human) |
RGD |
PMID:17852836 |
RGD:2306777 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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|
G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
|
ISO |
DNA:SNP: :rs12732361(human), associated with male. |
RGD |
PMID:27461004 |
RGD:14398490 |
NCBI chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
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|
G |
Btnl2 |
butyrophilin-like 2 |
susceptibility |
ISO |
associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) |
RGD |
PMID:19882345 |
RGD:9685030 |
NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
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|
G |
Cbs |
cystathionine beta synthase |
|
ISO |
CBS variant c.844ins68 |
RGD |
PMID:12855221 |
RGD:1600626 |
NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP ISO |
protein:increased expression:myocardium (rat) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery disease, modifier of protein:increased expression:serum (human) |
CTD ClinVar |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:16934270 PMID:18940815, PMID:16297799, PMID:9537339 |
RGD:8549513, RGD:8549577 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
susceptibility |
ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:16620281 |
RGD:11081161 |
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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|
G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:12742282 |
RGD:5508477 |
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:12426226 |
RGD:1581178 |
|
|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:heart (rat) |
RGD |
PMID:17449418 |
RGD:4890438 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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|
G |
Cd14 |
CD14 molecule |
no_association |
ISO |
DNA:SNP:promoter |
RGD |
PMID:18157711 |
RGD:2314154 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
|
|
G |
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 |
PMID:16368305, PMID:17635572, PMID:22645426, PMID:23819214, PMID:16494885 |
RGD:2314209, RGD:8547776, RGD:7248750, RGD:7248436 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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|
G |
Cdh5 |
cadherin 5 |
|
ISO |
|
RGD |
PMID:14695457 |
RGD:1598391 |
NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
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|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23104008 |
|
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
|
|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:31358993 |
|
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:17627189 |
RGD:4892665 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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|
G |
Clcn6 |
chloride voltage-gated channel 6 |
susceptibility |
ISO |
DNA:SNP: :rs3737964(human) |
RGD |
PMID:26740945 |
RGD:14696742 |
NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
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|
G |
Clu |
clusterin |
|
ISO |
associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma |
RGD |
PMID:20711835 |
RGD:9068393 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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|
G |
Crp |
C-reactive protein |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24868163, PMID:19615354 |
RGD:2313344 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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|
G |
Cst3 |
cystatin C |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:17983622 |
RGD:2314352 |
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
|
|
G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
|
|
G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
|
RGD GAD |
PMID:14709372, PMID:15118671 |
RGD:1578443, RGD:1331525 |
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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|
G |
Ddah2 |
dimethylarginine dimethylaminohydrolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17267746 |
|
NCBI chr20:5,049,260...5,052,573
Ensembl chr20:5,049,496...5,052,585
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|
G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
protein:increased expression:smooth muscle cell,macrophage |
RGD |
PMID:10973835, PMID:8994440 |
RGD:1580909, RGD:7244168 |
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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|
G |
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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|
G |
Eng |
endoglin |
severity |
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:21667051 |
RGD:7248776 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
|
|
G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
|
RGD |
PMID:14732757 |
RGD:1580982 |
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
|
|
G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25245553 |
|
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:SNP: :rs13181(human) |
RGD |
PMID:27566080 |
RGD:12880440 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9396482 PMID:20559769, PMID:16159931 |
RGD:1580335 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20559769, PMID:16099331 |
RGD:1581014 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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|
G |
F2 |
coagulation factor II |
treatment |
ISO |
|
RGD |
PMID:14961168 |
RGD:10449426 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
|
|
G |
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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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|
G |
Fabp2 |
fatty acid binding protein 2 |
|
ISO |
associated with Diabetes Mellitus, Type 2 (MeSH:D003924) |
RGD |
PMID:15059615 |
RGD:1626412 |
NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
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|
G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
DNA:polymorphism: :p.H131R (human) |
RGD |
PMID:20973705 |
RGD:5147917 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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|
G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
susceptibility |
ISO |
DNA:SNP:exon:p.F158V (rs396991)(human) |
RGD |
PMID:15910853 |
RGD:5508464 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
|
|
G |
Fgb |
fibrinogen beta chain |
|
ISO |
|
RGD |
PMID:8565160 |
RGD:1580382 |
NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
associated with Diabetes Mellitus |
RGD |
PMID:14585103 |
RGD:2315879 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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|
G |
Gck |
glucokinase |
susceptibility |
ISO |
DNA:SNP:promoter:-30G>A (human) |
RGD |
PMID:15173029 |
RGD:2301876 |
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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|
G |
Gdf15 |
growth differentiation factor 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20855664 |
|
NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978
|
|
G |
Gja4 |
gap junction protein, alpha 4 |
|
ISO |
|
RGD |
PMID:15059615 |
RGD:1626412 |
NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
|
|
G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141801 |
|
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
|
|
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 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
cardiovascular complications in type 2 diabetics |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
|
|
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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|
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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|
G |
Hectd4 |
HECT domain E3 ubiquitin protein ligase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr12:40,712,078...40,860,930
Ensembl chr12:40,713,841...40,822,159
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|
G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
|
RGD |
PMID:12746412 |
RGD:1582673 |
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
|
RGD |
PMID:11669408 |
RGD:8548610 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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|
G |
Hhipl1 |
HHIP-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 6:132,218,583...132,242,852
Ensembl chr 6:132,219,088...132,240,356
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|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:12742282 |
RGD:5508477 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
|
|
G |
Hmox1 |
heme oxygenase 1 |
no_association susceptibility |
ISO |
DNA:repeat:promoter CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12136229, PMID:14691581, PMID:12377749, PMID:12136229 |
RGD:1580470, RGD:1580454, RGD:1598401 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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|
G |
Hp |
haptoglobin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:884791 |
RGD:1626363 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
|
|
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 |
|
NCBI chr14:75,880,410...75,881,346
Ensembl chr14:75,852,060...75,882,693
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
|
RGD |
PMID:11222468 |
RGD:1624218 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
|
|
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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|
G |
Il15 |
interleukin 15 |
|
ISO |
associated with Hypertension;protein:increased expression:serum |
RGD |
PMID:16109314 |
RGD:1626610 |
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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|
G |
Il1b |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:22780915 |
RGD:7175093 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
|
|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
DNA:polymorphisms: :-27307T>A, -27614C>A (human) |
RGD |
PMID:20602249 |
RGD:5144241 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
|
|
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
|
NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
|
|
G |
Irs1 |
insulin receptor substrate 1 |
|
ISO |
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10591678, PMID:10591678 |
RGD:1624974 |
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
|
|
G |
Itga2 |
integrin subunit alpha 2 |
no_association |
ISO |
|
RGD |
PMID:15227729 |
RGD:1582294 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
|
|
G |
Jcad |
junctional cadherin 5 associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 |
|
NCBI chr17:55,667,754...55,709,738
Ensembl chr17:55,670,331...55,709,740
|
|
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 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
|
|
G |
Khdc3 |
KH domain containing 3, subcortical maternal complex member |
|
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 8:79,781,941...79,783,845
Ensembl chr 8:79,781,983...79,783,592
|
|
G |
Kl |
Klotho |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter: -G395>A (human) |
CTD |
PMID:12669274, PMID:16979405, PMID:16579981 |
RGD:1581721, RGD:1581723 |
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
|
|
G |
Ldlr |
low density lipoprotein receptor |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:27135400, PMID:16459141 |
RGD:1581823 |
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
|
|
G |
Lepr |
leptin receptor |
susceptibility |
ISO |
DNA:SNP:cds:p.Q223R(human) |
RGD |
PMID:27257426 |
RGD:21079462 |
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
|
|
G |
Lipa |
lipase A, lysosomal acid type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 |
|
NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
|
|
G |
Lipc |
lipase C, hepatic type |
no_association |
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) |
RGD GAD |
PMID:11916946, PMID:15118671, PMID:12689525, PMID:15099346 |
RGD:2308839, RGD:1331525, RGD:1600664, RGD:1600663 |
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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|
G |
Lipg |
lipase G, endothelial type |
|
ISO |
|
RGD |
PMID:16354105 |
RGD:1580865 |
NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
|
|
G |
Lmod1 |
leiomodin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28530674 |
|
NCBI chr13:52,147,099...52,189,835
Ensembl chr13:52,147,555...52,190,228
|
|
G |
LOC102551309 |
uncharacterized LOC102551309 |
|
ISO |
DNA:SNP: :rs56001051(human) |
RGD |
PMID:31175347 |
RGD:14696712 |
NCBI chr 5:164,875,558...164,885,606
Ensembl chr 5:164,874,832...164,883,933
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|
G |
Lox |
lysyl oxidase |
|
IDA |
|
RGD |
PMID:12393934 |
RGD:1581886 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
|
|
G |
Lpl |
lipoprotein lipase |
|
ISO |
|
RGD |
PMID:8641022 |
RGD:1580537 |
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
|
|
G |
Lrp6 |
LDL receptor related protein 6 |
|
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 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
|
|
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 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
|
|
G |
Lta |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15266304, PMID:15973460 |
RGD:1580414 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
|
|
G |
Lum |
lumican |
|
ISO |
|
RGD |
PMID:11890723 |
RGD:1582121 |
NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
|
|
G |
Mef2a |
myocyte enhancer factor 2a |
|
ISO 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 |
PMID:15811259 |
RGD:1580548 |
NCBI chr 1:128,207,715...128,341,681
Ensembl chr 1:128,209,971...128,341,263
|
|
G |
Mia3 |
MIA SH3 domain ER export factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr13:101,727,434...101,770,127
Ensembl chr13:101,727,935...101,761,541
|
|
G |
Mir146a |
microRNA 146a |
|
ISO |
CTD Direct Evidence: marker/mechanism miRNA:increased expression:peripheral blood mononuclear cell, plasma |
CTD |
PMID:20524934, PMID:31866771 |
RGD:21081515 |
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
|
|
G |
Mir146b |
microRNA 146b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
|
NCBI chr 1:266,089,488...266,089,575
Ensembl chr 1:266,089,488...266,089,575
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:decreased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
|
|
G |
Mir21 |
microRNA 21 |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
|
|
G |
Mir223 |
microRNA 223 |
treatment |
ISO |
|
RGD |
PMID:25350775 |
RGD:11076984 |
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
|
|
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
G |
Mmp12 |
matrix metallopeptidase 12 |
susceptibility |
ISO |
|
RGD |
PMID:10807873 |
RGD:1582366 |
NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
|
|
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 |
PMID:8662692, PMID:17893005, PMID:16100452 |
RGD:7207049, RGD:8693322 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
susceptibility treatment |
ISO IEP |
|
RGD |
PMID:15191941, PMID:26261622 |
RGD:1582644, RGD:11344965 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Mras |
muscle RAS oncogene homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
|
|
G |
Mrps6 |
mitochondrial ribosomal protein S6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr11:32,208,246...32,263,999
Ensembl chr11:32,211,115...32,263,899
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
no_association susceptibility |
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:15648053, PMID:12387655 |
RGD:1580579, RGD:6893453 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
|
|
G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
|
RGD |
PMID:17283255 |
RGD:1642340 |
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
|
|
G |
Nat2 |
N-acetyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21572414 |
|
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
|
|
G |
Ngf |
nerve growth factor |
|
ISO |
|
RGD |
PMID:11935372 |
RGD:1580935 |
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
|
|
G |
Ngfr |
nerve growth factor receptor |
|
ISO |
|
RGD |
PMID:11935372 |
RGD:1580935 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
|
|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
DNA:polymorphisms: :p.G908R, 3020_3021insC (human) |
RGD |
PMID:21565239 |
RGD:5508725 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte |
RGD |
PMID:14764920 |
RGD:1580941 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
|
|
G |
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 |
PMID:10510054 PMID:14989558 PMID:17267746 PMID:19696404, PMID:8564837, PMID:19761682, PMID:16284093 |
RGD:7421529, RGD:7771578, RGD:7771567 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
G |
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 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
|
|
G |
Nppb |
natriuretic peptide B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18022110 |
|
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
ISO |
DNA:missense mutation:cds:p.N363S (human) |
RGD |
PMID:12623935 |
RGD:1580790 |
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
|
|
G |
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 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
|
|
G |
Pappa1 |
pappalysin 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11586954, PMID:16055491 |
RGD:1642327 |
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
|
|
G |
Parl |
presenilin associated, rhomboid-like |
susceptibility |
ISO |
DNA:missense mutation:cds:p.L262V (human) |
RGD |
PMID:18758826 |
RGD:12902623 |
NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
|
|
G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:27135400 |
|
NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
|
|
G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 |
|
NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
|
|
G |
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 |
PMID:28530674, PMID:11795274, PMID:10780329, PMID:12732396 |
RGD:2311656, RGD:6771225, RGD:1581010 |
NCBI chr10:94,850,971...94,913,202
|
|
G |
Phactr1 |
phosphatase and actin regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:22751097 PMID:26098115 |
|
NCBI chr17:23,245,423...23,761,207
|
|
G |
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 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
|
|
G |
Plpp3 |
phospholipid phosphatase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 5:124,690,214...124,765,499
Ensembl chr 5:124,690,214...124,765,498
|
|
G |
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 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.Q192R (human) CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to protein:increased activity:serum (human) |
CTD ClinVar |
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:10729395, PMID:15785307, PMID:11917194 |
RGD:1580196, RGD:8547681, RGD:1580203 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Pon2 |
paraoxonase 2 |
severity |
ISO |
DNA:missense mutation:cds:p.C311S (human) |
RGD |
PMID:12454802 |
RGD:1580217 |
NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
|
|
G |
Ppara |
peroxisome proliferator activated receptor alpha |
susceptibility |
ISO |
DNA:snp:intron: (human) |
RGD |
PMID:16043164 |
RGD:1580228 |
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
|
|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) |
RGD |
PMID:21709632 |
RGD:8552814 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
|
|
G |
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 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
|
|
G |
Procr |
protein C receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28530674 |
|
NCBI chr 3:151,285,321...151,289,581
Ensembl chr 3:151,285,249...151,289,595
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14642682 |
|
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
|
|
G |
Pth |
parathyroid hormone |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:23460043 |
RGD:7242420 |
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
|
|
G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
ISO |
DNA: snp: cds: rs2476601 |
RGD |
PMID:21846984 |
RGD:6484553 |
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
|
|
G |
Sele |
selectin E |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) |
RGD |
PMID:17578587 |
RGD:2313596 |
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
|
|
G |
Selp |
selectin P |
|
ISO |
ClinVar Annotator: match by term: Premature coronary artery disease |
ClinVar |
|
|
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
|
|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:7832094 |
RGD:1643149 |
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
|
|
G |
Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:insertion:promoter: (human) |
RGD |
PMID:9484978 |
RGD:1580190 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
|
|
G |
Serpinf2 |
serpin family F member 2 |
|
ISO |
|
RGD |
PMID:9184412 |
RGD:1625532 |
NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
|
|
G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
|
|
G |
Soat2 |
sterol O-acyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) |
RGD |
PMID:16195894 |
RGD:1601112 |
NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
|
|
G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
|
RGD |
PMID:10811593 |
RGD:1580853 |
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
|
|
G |
Sort1 |
sortilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 2:211,078,092...211,156,312
Ensembl chr 2:211,078,334...211,156,312
|
|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
In type 2 diabetic patients |
RGD |
PMID:21034455 |
RGD:6903271 |
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
|
|
G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
|
|
G |
Tcf21 |
transcription factor 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:22751097 |
|
NCBI chr 1:23,906,717...23,909,576
Ensembl chr 1:23,906,717...23,909,566
|
|
G |
Tek |
TEK receptor tyrosine kinase |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:12814387 |
RGD:1601489 |
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16890917 |
|
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
|
|
G |
Thbd |
thrombomodulin |
severity |
ISO |
|
RGD |
PMID:17012137 |
RGD:1601638 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934, PMID:15632890 |
RGD:1580736 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:15059615 |
RGD:1626412 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15926884 |
RGD:1620893 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
severity |
ISO |
|
RGD |
PMID:19845893 |
RGD:5131425 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
|
|
G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
|
RGD |
PMID:12221049 |
RGD:1580780 |
NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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|
G |
Tp53 |
tumor protein p53 |
|
ISO |
DNA:misssense mutation: :p.R72P (rs1042522) (human) |
RGD |
PMID:29482350 |
RGD:14995930 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Traf6 |
TNF receptor associated factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
|
NCBI chr 3:91,252,829...91,271,607
Ensembl chr 3:91,252,829...91,271,607
|
|
G |
Trib1 |
tribbles pseudokinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097064 |
|
NCBI chr 7:99,954,492...99,961,026
Ensembl chr 7:99,954,492...99,961,026
|
|
G |
Ttn |
titin |
|
ISO |
|
RGD |
PMID:12221049 |
RGD:1580780 |
NCBI chr 3:63,565,160...63,837,815
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G |
Vdr |
vitamin D receptor |
severity |
ISO |
DNA:SNP (human) |
RGD |
PMID:9761785 |
RGD:4889864 |
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:14668888 PMID:15937083, PMID:15754021 |
RGD:1580569 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Vim |
vimentin |
|
ISO |
protein:increased expression:monocyte |
RGD |
PMID:21938407 |
RGD:6480617 |
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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G |
Vtn |
vitronectin |
|
ISO |
|
RGD |
PMID:15678274 |
RGD:1580816 |
NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
|
|
G |
Wdr12 |
WD repeat domain 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 9:66,851,499...66,878,534
Ensembl chr 9:66,851,940...66,877,972
|
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G |
Wrn |
WRN RecQ like helicase |
|
ISO |
|
RGD |
PMID:11186893 |
RGD:1580824 |
NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
|
|
G |
Zc3hc1 |
zinc finger, C3HC-type containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 4:57,684,678...57,706,613
Ensembl chr 4:57,684,678...57,706,613
|
|
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G |
Mef2a |
myocyte enhancer factor 2a |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction ClinVar Annotator: match by OMIM:608320 |
OMIM ClinVar |
PMID:14645853 PMID:15496429 PMID:15841183 |
|
NCBI chr 1:128,207,715...128,341,681
Ensembl chr 1:128,209,971...128,341,263
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G |
Lrp6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 ClinVar Annotator: match by OMIM:610947 |
OMIM ClinVar |
PMID:17332414 PMID:23703864 PMID:25741868 |
|
NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
|
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 |
|
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
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 7:70,612,650...70,620,900
Ensembl chr 7:70,612,103...70,620,890
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 |
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NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11810302 |
|
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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|
|
G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
disease_progression |
ISO |
|
RGD |
PMID:26315408 |
RGD:14367880 |
NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
mRNA:increased expression:heart: |
RGD |
PMID:21439970 |
RGD:7257651 |
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9236417 |
|
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12138120 |
|
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
|
|
G |
Bche |
butyrylcholinesterase |
susceptibility |
ISO |
DNA:polymorphism: :p.A539T (human) |
RGD |
PMID:17275003 |
RGD:2306778 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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|
G |
Cdh13 |
cadherin 13 |
|
IEP |
protein:increased expression:artery, smooth muscle cell |
RGD |
PMID:12376824 |
RGD:2293553 |
NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
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|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14578618 |
RGD:1598500 |
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:14578618 |
RGD:1598500 |
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
|
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G |
F2r |
coagulation factor II (thrombin) receptor |
|
ISO |
|
RGD |
PMID:14529396 |
RGD:1581036 |
NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
|
|
G |
Hmox1 |
heme oxygenase 1 |
susceptibility |
ISO |
|
RGD |
PMID:16020495, PMID:14529548 |
RGD:1598402, RGD:1580472 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
|
RGD |
PMID:11703955 |
RGD:1581185 |
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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G |
Lox |
lysyl oxidase |
|
IDA |
|
RGD |
PMID:15218472 |
RGD:1581881 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
IDA |
|
RGD |
PMID:15583728 |
RGD:1582284 |
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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|
G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:5' utr, exon:multiple (human) |
RGD |
PMID:15790942 |
RGD:1582150 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8662692 |
|
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
|
|
G |
Mmp7 |
matrix metallopeptidase 7 |
treatment |
IEP |
|
RGD |
PMID:21139058 |
RGD:9685362 |
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16489563 |
|
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
treatment |
IDA |
|
RGD |
PMID:7955204 |
RGD:10059621 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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|
G |
Npy5r |
neuropeptide Y receptor Y5 |
|
IEP |
mRNA, protein:increased expression:carotid artery |
RGD |
PMID:12689918 |
RGD:1625501 |
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
|
RGD |
PMID:12114325, PMID:16373617 |
RGD:1581358, RGD:1581366 |
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319143, PMID:16319143 |
RGD:1580322 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
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G |
Tp53 |
tumor protein p53 |
|
ISO |
|
RGD |
PMID:14740296 |
RGD:1580742 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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|
G |
Ucp3 |
uncoupling protein 3 |
susceptibility |
ISO |
DNA:polymorphism:promoter:-55C>T (human) |
RGD |
PMID:17786284 |
RGD:2313513 |
NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
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|
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G |
Apln |
apelin |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:19015606 |
RGD:2313942 |
NCBI chr X:134,856,719...134,866,210
Ensembl chr X:134,856,726...134,866,210
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G |
Edn1 |
endothelin 1 |
treatment |
ISO |
|
RGD |
PMID:10854676 |
RGD:8661796 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Hrh2 |
histamine receptor H 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
|
NCBI chr17:10,912,959...10,931,389
Ensembl chr17:10,921,507...10,952,441
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|
G |
Igf1 |
insulin-like growth factor 1 |
|
IEP |
mRNA:increased expression:myocyte: |
RGD |
PMID:8102103 |
RGD:10046053 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IEP |
mRNA:increased expression:myocyte: |
RGD |
PMID:8102103 |
RGD:10046053 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Itgav |
integrin subunit alpha V |
|
IDA |
|
RGD |
PMID:11922905 |
RGD:1582454 |
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
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|
G |
Mdk |
midkine |
|
IDA |
|
RGD |
PMID:10683378 |
RGD:1299187 |
NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
|
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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|
G |
Nppa |
natriuretic peptide A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
|
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
DNA:missense mutations:cds:p.L125V, p.S563N (human) |
RGD |
PMID:10571959 |
RGD:1598382 |
NCBI chr10:94,850,971...94,913,202
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|
G |
Prkce |
protein kinase C, epsilon |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16782078 |
|
NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15569000 |
RGD:1624167 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
|
|
|
G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8598867 |
|
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
|
|
G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1452937 PMID:8172379 PMID:15301905 |
|
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
|
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds: (human) |
RGD |
PMID:19279659 |
RGD:7495846 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
|
|
G |
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 |
|
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
|
G |
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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|
G |
Agt |
angiotensinogen |
|
ISO |
mRNA:increased expression:myocardium |
RGD |
PMID:11451295 |
RGD:8548894 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
|
|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
mRNA:increased expression:myocardium |
RGD |
PMID:11451295 |
RGD:8548894 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased serine phosphorylation:platelet |
RGD |
PMID:20467748 |
RGD:5509094 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:20367977 |
RGD:5685646 |
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
|
RGD |
PMID:16186425 |
RGD:4891111 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
|
|
G |
Crp |
C-reactive protein |
disease_progression |
ISO |
|
RGD |
PMID:9761079 |
RGD:9491780 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) |
RGD |
PMID:14556009 |
RGD:8661755 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
|
|
G |
F7 |
coagulation factor VII |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:10653827 |
RGD:2312399 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
|
|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:18333374 |
RGD:5508458 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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|
G |
Itga2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
|
RGD |
PMID:15104219 |
RGD:1582303 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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|
G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
|
RGD |
PMID:10486281 |
RGD:1582334 |
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:14675588 |
RGD:1582536 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
G |
Pappa1 |
pappalysin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11586954 |
|
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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|
G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2382605 |
|
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
|
|
G |
Selp |
selectin P |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21162967 |
RGD:6219003 |
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
|
|
G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
|
RGD |
PMID:8122184 |
RGD:11035255 |
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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|
G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
|
RGD |
PMID:14592844 |
RGD:1580841 |
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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|
G |
Txn1 |
thioredoxin 1 |
|
ISO |
|
RGD |
PMID:15749180 |
RGD:1580784 |
NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
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|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy |
ClinVar |
PMID:15940697 PMID:25741868 |
|
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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|
|
G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
ISO |
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to |
ClinVar |
PMID:16563363 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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|
G |
Ace |
angiotensin I converting enzyme |
treatment susceptibility |
ISO IEP IMP |
ClinVar Annotator: match by term: Heart attack 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 |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 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:15118671, PMID:23959549, PMID:15671045, PMID:7555560, PMID:21975128 |
RGD:1331525, RGD:9685449, RGD:1558664, RGD:7829785, RGD:6893480 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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|
G |
Ace2 |
angiotensin I converting enzyme 2 |
treatment |
IEP IDA |
mRNA:increased expression:myocardium |
RGD |
PMID:15671045, PMID:23959549 |
RGD:1558664, RGD:9685449 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24358288 |
|
NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
|
|
G |
Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
|
IEP |
|
RGD |
PMID:15625312 |
RGD:9681751 |
NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
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|
G |
Add1 |
adducin 1 |
no_association |
ISO |
DNA:missense mutation:cds:p.G460W (human) |
RGD |
PMID:17082469, PMID:16420563 |
RGD:5147995, RGD:5148001 |
NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
disease_progression |
IEP |
|
RGD |
PMID:21326342 |
RGD:5686351 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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|
G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
mRNA, protein:decreased expression:heart left ventricle |
RGD |
PMID:16415076 |
RGD:1625764 |
NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
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|
G |
Adipor2 |
adiponectin receptor 2 |
|
ISO |
mRNA, protein:decreased expression:heart left ventricle |
RGD |
PMID:16415076 |
RGD:1625764 |
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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|
G |
Adora1 |
adenosine A1 receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12160945 |
|
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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|
G |
Adora3 |
adenosine A3 receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12160945 PMID:20132822 |
|
NCBI chr 2:208,336,909...208,379,217
Ensembl chr 2:208,373,154...208,376,803
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|
G |
Adra2b |
adrenoceptor alpha 2B |
|
ISO |
|
RGD |
PMID:12535806 |
RGD:1559314 |
NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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|
G |
Adrb1 |
adrenoceptor beta 1 |
|
ISO IMP |
|
GAD RGD |
PMID:15118671, PMID:17143192 |
RGD:1331525, RGD:7241557 |
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
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|
G |
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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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|
G |
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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|
G |
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 |
PMID:1668233 PMID:16413583, PMID:21167013, PMID:15118671, PMID:11393670, PMID:17299437 |
RGD:5129191, RGD:1331525, RGD:1566452, RGD:1601132 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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|
G |
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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|
G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19029462 |
RGD:2313810 |
NCBI chr11:81,711,269...81,717,594
|
|
G |
Aimp1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
|
IEP |
|
RGD |
PMID:14732363 |
RGD:1580021 |
NCBI chr 2:237,727,782...237,751,327
Ensembl chr 2:237,727,764...237,751,378
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|
G |
Ak1 |
adenylate kinase 1 |
treatment |
IEP |
|
RGD |
PMID:22229508 |
RGD:11100025 |
NCBI chr 3:11,652,143...11,659,135
|
|
G |
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 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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|
G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
DNA:missense mutation: :p.E487K (human) |
RGD |
PMID:12452318 |
RGD:2311152 |
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
|
|
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 chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
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|
G |
Ang |
angiogenin |
|
ISO |
|
RGD |
PMID:18462761 |
RGD:2325719 |
NCBI chr15:28,022,926...28,028,636
|
|
G |
Angpt1 |
angiopoietin 1 |
|
IEP |
mRNA, protein:decreased expression:myocardium |
RGD |
PMID:15364619 |
RGD:1626168 |
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
|
|
G |
Angpt2 |
angiopoietin 2 |
|
IEP |
protein:increased expression:left ventricular wall, heart septum (rat) |
RGD |
PMID:16714360 |
RGD:1601493 |
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
|
|
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 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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|
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
|
|
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 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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|
G |
Apob |
apolipoprotein B |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
|
|
G |
Apoc3 |
apolipoprotein C3 |
no_association |
ISO |
|
RGD GAD |
PMID:10428310, PMID:15118671 |
RGD:1578442, RGD:1331525 |
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
|
|
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) ClinVar Annotator: match by null |
CTD ClinVar |
PMID:10587578 PMID:12774036, PMID:17217375, PMID:10090925, PMID:15118671 |
RGD:1601229, RGD:10449412, RGD:1331525 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
|
|
G |
Apoh |
apolipoprotein H |
|
ISO IDA |
|
RGD |
PMID:15322656, PMID:12826288 |
RGD:2313985, RGD:10054111 |
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
|
|
G |
Atg7 |
autophagy related 7 |
|
IEP |
mRNA:increased expression:plantaris |
RGD |
PMID:24427319 |
RGD:11557988 |
NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
|
|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24358288, PMID:24358288 |
RGD:10053570 |
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
|
|
G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29702141 |
|
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
|
|
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 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
|
|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
treatment |
ISO |
|
RGD |
PMID:24692845 |
RGD:13801194 |
NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
|
|
G |
Avpr1a |
arginine vasopressin receptor 1A |
|
IMP |
|
RGD |
PMID:16423716 |
RGD:2300376 |
NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29122578 |
|
NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20079142 PMID:25450231 |
|
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19027736 |
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Bcl2l1 |
Bcl2-like 1 |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20079142, PMID:17467744 |
RGD:1643494 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
|
|
G |
Bdkrb1 |
bradykinin receptor B1 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:12489796 |
RGD:704379 |
NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
|
|
G |
Bdkrb2 |
bradykinin receptor B2 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:12489796 |
RGD:704379 |
NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
|
|
G |
Becn1 |
beclin 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20079142, PMID:20079142 |
RGD:11561913 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
|
|
G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
IEP |
|
RGD |
PMID:15081314 |
RGD:2293137 |
NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
|
|
G |
Bnip3 |
BCL2 interacting protein 3 |
|
IEP |
mRNA:increased expression:plantaris |
RGD |
PMID:24427319 |
RGD:11557988 |
NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
|
|
G |
Brap |
BRCA1 associated protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198608 |
|
NCBI chr12:40,381,892...40,417,764
Ensembl chr12:40,383,577...40,417,654
|
|
G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
susceptibility |
ISO |
DNA:SNPs:3' end: |
RGD |
PMID:18430236 |
RGD:14398488 |
NCBI chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
|
|
G |
C3 |
complement C3 |
|
IEP |
mRNA, protein:increased expression:myocardium |
RGD |
PMID:16996480 |
RGD:1600605 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
|
|
G |
C7 |
complement C7 |
|
IEP |
Protein:increased activity:serum, myocardium |
RGD |
PMID:15724448 |
RGD:1599522 |
NCBI chr 2:54,707,621...54,781,624
Ensembl chr 2:54,709,138...54,777,729
|
|
G |
C8a |
complement C8 alpha chain |
|
IEP |
|
RGD |
PMID:7515561 |
RGD:1600501 |
NCBI chr 5:124,348,536...124,403,117
Ensembl chr 5:124,348,461...124,403,195
|
|
G |
C8b |
complement C8 beta chain |
|
IEP |
|
RGD |
PMID:7515561 |
RGD:1600501 |
NCBI chr 5:124,298,269...124,338,055
Ensembl chr 5:124,300,477...124,338,053
|
|
G |
Cacybp |
calcyclin binding protein |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:16440310 |
RGD:2326117 |
NCBI chr13:77,948,771...77,959,089
Ensembl chr13:77,948,771...77,959,110
|
|
G |
Casp1 |
caspase 1 |
severity |
ISO |
|
RGD |
PMID:17303764 |
RGD:2315913 |
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
|
|
G |
Casp3 |
caspase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450231, PMID:27904666 |
RGD:13782309 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
|
|
G |
Casr |
calcium-sensing receptor |
|
IEP |
protein:increased expression:myocardium (rat) |
RGD |
PMID:22527939 |
RGD:7205672 |
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
|
|
G |
Cat |
catalase |
|
IEP ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21600015, PMID:14575298 |
RGD:1581148 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
|
|
G |
Cav3 |
caveolin 3 |
|
IEP |
Protein:increased expression:cytosol |
RGD |
PMID:12566108 |
RGD:1599542 |
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
|
|
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
mRNA:increased expression:heart (rat) |
RGD |
PMID:18954648 |
RGD:4890013 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
|
|
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 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
|
|
G |
Ccna2 |
cyclin A2 |
|
IEP |
protein:increased expression:cardiomyocyte: |
RGD |
PMID:23634243 |
RGD:10054471 |
NCBI chr 2:123,274,727...123,282,266
Ensembl chr 2:123,275,881...123,282,214
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:12719858, PMID:12853162 |
RGD:1581177, RGD:1581174 |
|
|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
IDA |
|
RGD |
PMID:18954648 |
RGD:4890013 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
|
|
G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
ClinVar Annotator: match by synonym: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 |
ClinVar |
PMID:24213632 |
|
NCBI chr 4:117,235,023...117,252,265
Ensembl chr 4:117,235,023...117,252,265
|
|
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
|
|
G |
Cd36 |
CD36 molecule |
severity |
IMP |
|
RGD |
PMID:22128087 |
RGD:6893560 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17635572 |
RGD:2314209 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Cd59 |
CD59 molecule |
|
IEP |
protein:decreased expression:myocardium |
RGD |
PMID:7515561 |
RGD:1600501 |
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
|
|
G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
treatment |
IMP ISO |
|
RGD |
PMID:22492676, PMID:22492676 |
RGD:10045366, RGD:10045366 |
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
|
|
G |
Cfl1 |
cofilin 1 |
treatment |
IDA |
|
RGD |
PMID:24292258 |
RGD:11570534 |
NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
associated with Myocardial Reperfusion Injury |
RGD |
PMID:23221371 |
RGD:11566046 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:18480670 |
RGD:4892633 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
|
|
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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
|
|
G |
Ckb |
creatine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12359538 |
|
NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
|
|
G |
Ckm |
creatine kinase, M-type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3279722 PMID:12359538 |
|
NCBI chr 1:80,321,507...80,331,841
Ensembl chr 1:80,321,585...80,331,841
|
|
G |
Clu |
clusterin |
treatment |
ISO |
|
RGD |
PMID:20854280 |
RGD:9068409 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
|
RGD |
PMID:25636075 |
RGD:11041598 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
treatment |
IEP |
|
RGD |
PMID:25636075 |
RGD:11041598 |
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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|
G |
Col4a1 |
collagen type IV alpha 1 chain |
susceptibility |
ISO |
DNA:polymorphism: :p.Q1334H (human) |
RGD |
PMID:18077766 |
RGD:2311341 |
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
|
|
G |
Creb1 |
cAMP responsive element binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19027736 |
|
NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
|
|
G |
Crem |
cAMP responsive element modulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19027736 |
|
NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
|
|
G |
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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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|
G |
Csf2 |
colony stimulating factor 2 |
|
IMP |
|
RGD |
PMID:21326109 |
RGD:5131507 |
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
|
|
G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
|
RGD |
PMID:15639484 |
RGD:11039417 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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|
G |
Csnk2a1 |
casein kinase 2 alpha 1 |
|
IEP |
|
RGD |
PMID:15090263 |
RGD:11565830 |
NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
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|
G |
Csnk2b |
casein kinase 2 beta |
|
IEP |
|
RGD |
PMID:15090263 |
RGD:11565830 |
NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNP:CDS:49A>G (human) |
RGD |
PMID:17652883 |
RGD:2301976 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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|
G |
Ctsb |
cathepsin B |
|
IEP |
protein:increased activity:serum, heart (rat) |
RGD |
PMID:19958779 |
RGD:2315501 |
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
|
|
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 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
|
|
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 chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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|
G |
Cybb |
cytochrome b-245 beta chain |
|
IEP |
mRNA:increase expression:ventricle myocardium |
RGD |
PMID:11243862 |
RGD:1599690 |
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
|
|
G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
IMP |
|
RGD |
PMID:18689429 |
RGD:2307303 |
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
|
|
G |
Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
susceptibility |
ISO |
DNA:polymorphism |
RGD |
PMID:17126841 |
RGD:1625380 |
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
|
|
G |
Dab2 |
DAB adaptor protein 2 |
|
IEP IMP |
protein:increased expression:cardiomyocyte |
RGD |
PMID:21762377, PMID:20666606 |
RGD:7243156, RGD:7243158 |
NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
|
|
G |
Dab2ip |
DAB2 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20622881 |
|
NCBI chr 3:14,889,263...15,060,286
Ensembl chr 3:14,889,510...15,060,286
|
|
G |
Dag1 |
dystroglycan 1 |
treatment |
IDA |
|
RGD |
PMID:12034665 |
RGD:11541047 |
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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|
G |
Dcn |
decorin |
|
IEP |
|
RGD |
PMID:16311904 |
RGD:1598497 |
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
|
|
G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450231 |
|
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
|
|
G |
Dgkz |
diacylglycerol kinase zeta |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17071729 |
|
NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
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|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
IEP |
|
RGD |
PMID:15256074 |
RGD:1580899 |
NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
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|
G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
|
RGD |
PMID:9607404 |
RGD:1580912 |
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
|
|
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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|
G |
Edn2 |
endothelin 2 |
|
IEP |
|
RGD |
PMID:10573185 |
RGD:1580921 |
NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
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|
G |
Ednra |
endothelin receptor type A |
|
IDA |
|
RGD |
PMID:12524016 |
RGD:1580948 |
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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|
G |
Ednrb |
endothelin receptor type B |
|
IDA |
|
RGD |
PMID:12524016 |
RGD:1580948 |
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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|
G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
|
IEP |
|
RGD |
PMID:16765982 |
RGD:11252084 |
NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
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|
G |
Egln3 |
egl-9 family hypoxia-inducible factor 3 |
|
IEP |
|
RGD |
PMID:16765982 |
RGD:11252084 |
NCBI chr 6:75,050,329...75,075,795
Ensembl chr 6:75,050,329...75,075,795
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|
G |
Epas1 |
endothelial PAS domain protein 1 |
|
IEP |
|
RGD |
PMID:15247145, PMID:18484163 |
RGD:1580977, RGD:5147886 |
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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|
G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
|
RGD |
PMID:19716829 |
RGD:5688358 |
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
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|
G |
Epo |
erythropoietin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19337937, PMID:21415704 |
RGD:10400907 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Epor |
erythropoietin receptor |
|
IEP |
|
RGD |
PMID:21415704 |
RGD:10400907 |
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
|
|
G |
Esr1 |
estrogen receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM CTD ClinVar |
PMID:11894143 PMID:11919305 PMID:14600184, PMID:15118671 |
RGD:1331525 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
|
|
G |
F10 |
coagulation factor X |
|
ISO |
ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to |
ClinVar |
PMID:10984565 PMID:12181036 PMID:25741868 |
|
NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
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|
G |
F12 |
coagulation factor XII |
susceptibility |
ISO |
DNA:polymorphism:promoter:-46C>T(human) |
RGD |
PMID:16411408 |
RGD:11041803 |
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
|
|
G |
F13a1 |
coagulation factor XIII A1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Myocardial infarction, protection against CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:8025280 PMID:9459313 PMID:9550516 PMID:10365735 PMID:10910914 PMID:12072871 PMID:12456499 PMID:17393027 PMID:25741868, PMID:12480694 |
RGD:1581022 |
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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|
G |
F2 |
coagulation factor II |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism::20210G>A(human) |
CTD |
PMID:9292507 PMID:9531249 PMID:10027711, PMID:12480694 |
RGD:1581022 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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|
G |
F3 |
coagulation factor III, tissue factor |
treatment |
IEP |
|
RGD |
PMID:21229253 |
RGD:11062083 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
|
|
G |
F5 |
coagulation factor V |
no_association susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:1691G>A (human) |
CTD |
PMID:9531249, PMID:10590188, PMID:15131548 |
RGD:11564337, RGD:11564335 |
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
|
|
G |
F7 |
coagulation factor VII |
susceptibility |
ISO |
protein:increased activity:plasma (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to DNA:missense mutation, repeat:cds, intron:p.R353Q, (human) |
CTD OMIM ClinVar |
PMID:10984565 PMID:12181036 PMID:25741868, PMID:7495060, PMID:9420338, PMID:16116695 |
RGD:2312409, RGD:11049521, RGD:1580374 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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|
G |
Fabp3 |
fatty acid binding protein 3 |
|
ISO |
|
RGD |
PMID:8326460 |
RGD:1582401 |
NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
|
|
G |
Fgb |
fibrinogen beta chain |
|
ISO |
|
GAD RGD |
PMID:15118671, PMID:9437197 |
RGD:1331525, RGD:1580381 |
NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
|
|
G |
Fgf1 |
fibroblast growth factor 1 |
treatment |
ISO |
|
RGD |
PMID:24200746 |
RGD:10449026 |
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:17439742 |
RGD:10402087 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Fis1 |
fission, mitochondrial 1 |
|
IEP |
protein:increased expression:plantaris (rat) |
RGD |
PMID:24427319 |
RGD:11557988 |
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
IEP |
|
RGD |
PMID:16714360 |
RGD:1601493 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
treatment |
ISO |
|
RGD |
PMID:24184252 |
RGD:11049498 |
NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
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G |
Fn1 |
fibronectin 1 |
|
IEP |
protein:decreased expression:heart |
RGD |
PMID:19695229 |
RGD:2325720 |
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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G |
Fzd2 |
frizzled class receptor 2 |
|
IEP |
mRNA:increased expression:heart left ventricle |
RGD |
PMID:9142123 |
RGD:4107058 |
NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
IEP |
|
RGD |
PMID:20462747 |
RGD:10449173 |
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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|
G |
Gata4 |
GATA binding protein 4 |
treatment |
IMP ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20200331, PMID:23948075 |
RGD:7327215 |
NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
susceptibility |
ISO |
DNA:snp:promoter:c.-129C>T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM CTD ClinVar |
PMID:12598062, PMID:12598062 |
RGD:1302515 |
NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
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G |
Gclm |
glutamate cysteine ligase, modifier subunit |
susceptibility |
ISO |
ClinVar Annotator: match by null CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:12081989 PMID:12975258 |
|
NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19419996 |
|
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
|
RGD |
PMID:12500159 |
RGD:11352745 |
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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G |
Ghrh |
growth hormone releasing hormone |
treatment |
IDA |
|
RGD |
PMID:24373935 |
RGD:10401242 |
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Gja4 |
gap junction protein, alpha 4 |
|
ISO |
|
RGD |
PMID:15982495 |
RGD:1580400 |
NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
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G |
Gja5 |
gap junction protein, alpha 5 |
treatment |
IEP |
|
RGD |
PMID:29428663 |
RGD:13592597 |
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
|
RGD |
PMID:15269835 |
RGD:1580432 |
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
|
RGD |
PMID:14573732 |
RGD:1600662 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16716347, PMID:16565311 |
RGD:10045368 |
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
|
RGD |
PMID:25119867 |
RGD:10401898 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by synonym: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 |
ClinVar |
PMID:24213632 |
|
NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
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IEP |
|
RGD |
PMID:11481570 |
RGD:2302229 |
NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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G |
Hamp |
hepcidin antimicrobial peptide |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:19615879 |
RGD:11041636 |
NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
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G |
Hfe |
homeostatic iron regulator |
no_association susceptibility |
ISO |
|
RGD |
PMID:12850485, PMID:10491370 |
RGD:1582672, RGD:1582697 |
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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G |
Hgf |
hepatocyte growth factor |
treatment |
ISO |
protein:increased expression:serum: |
RGD |
PMID:12419930, PMID:16570015 |
RGD:8548609, RGD:8548632 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IEP ISO |
mRNA:increased expression:heart left ventricle human gene in a rat model |
RGD |
PMID:18484163, PMID:15247145, PMID:15999059 |
RGD:5147886, RGD:1580977, RGD:9068466 |
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21113057, PMID:23188125 |
RGD:10402174 |
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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G |
Hmox1 |
heme oxygenase 1 |
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IEP IDA |
|
RGD |
PMID:12392996, PMID:20925964 |
RGD:1598393, RGD:4145134 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hp |
haptoglobin |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 PMID:17068284 PMID:17207726, PMID:3990081, PMID:2613263 |
RGD:1626360, RGD:1626354 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IEP ISO |
mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17587755, PMID:17587755 |
RGD:2308939 |
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450231 |
|
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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IEP |
|
RGD |
PMID:17202668 |
RGD:1624230 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10070497, PMID:23139358 |
RGD:8547733 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
mRNA,protein:increased expression:myocyte: |
RGD |
PMID:8682060 |
RGD:10046050 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883752 PMID:16310260, PMID:15466015 |
RGD:1598480 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il17a |
interleukin 17A |
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IEP |
mRNA, protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:23096364 |
RGD:9095344 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il18bp |
interleukin 18 binding protein |
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ISO |
|
RGD |
PMID:19805173 |
RGD:4889400 |
NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
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G |
Il1b |
interleukin 1 beta |
|
IDA ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD |
PMID:11743230 PMID:15883752 PMID:16310260, PMID:23143013, PMID:23237935 |
RGD:7175553, RGD:7204425 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18474815 PMID:19005744 |
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NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il4r |
interleukin 4 receptor |
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IEP |
mRNA:increased expression:heart |
RGD |
PMID:10807530 |
RGD:4889985 |
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883752 PMID:16310260 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il6r |
interleukin 6 receptor |
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IEP |
|
RGD |
PMID:12123772 |
RGD:1625444 |
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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G |
Itga2 |
integrin subunit alpha 2 |
susceptibility no_association |
ISO |
|
RGD |
PMID:16697311, PMID:10194421, PMID:15227729 |
RGD:1582296, RGD:1581029, RGD:1582294 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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G |
Itga3 |
integrin subunit alpha 3 |
|
IEP |
protein:increased expression:myocardium (rat) |
RGD |
PMID:19041328 |
RGD:2325287 |
NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
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G |
Itgb1 |
integrin subunit beta 1 |
treatment |
IMP |
|
RGD |
PMID:28367125 |
RGD:13602094 |
NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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G |
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 |
ClinVar OMIM CTD |
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:9716140, PMID:10531147, PMID:20846430 |
RGD:5128498, RGD:5128481, RGD:5128476 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
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ISO |
|
RGD |
PMID:10486281 |
RGD:1582334 |
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
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G |
Jak2 |
Janus kinase 2 |
susceptibility |
IMP |
associated with Myocardial Reperfusion Injury |
RGD |
PMID:22749532 |
RGD:10403083 |
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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G |
Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
treatment |
IDA |
|
RGD |
PMID:23647964 |
RGD:7247426 |
NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
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G |
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 chr13:107,690,111...107,886,476
Ensembl chr13:107,690,087...107,886,476
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G |
Kdr |
kinase insert domain receptor |
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ISO |
|
RGD |
PMID:16698275 |
RGD:1581717 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Kif6 |
kinesin family member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21943003 |
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NCBI chr 9:13,016,973...13,311,971
Ensembl chr 9:13,030,673...13,311,924
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G |
Klf13 |
Kruppel-like factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29122578 |
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NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
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G |
Klk1 |
kallikrein 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12411458 |
|
NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329
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G |
Klk1c12 |
kallikrein 1-related peptidase C12 |
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ISO |
|
RGD |
PMID:17022964 |
RGD:1641799 |
NCBI chr 1:99,298,965...99,303,048
Ensembl chr 1:99,299,011...99,303,048
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
IEP |
mRNA:increased expression:plantaris |
RGD |
PMID:24427319 |
RGD:11557988 |
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
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G |
Lcat |
lecithin cholesterol acyltransferase |
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IDA |
|
RGD |
PMID:16640830 |
RGD:1581773 |
NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
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G |
Ldha |
lactate dehydrogenase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3279722 |
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NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
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G |
Ldlr |
low density lipoprotein receptor |
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ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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G |
Lgals2 |
galectin 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM CTD ClinVar |
PMID:15129282, PMID:15129282 |
RGD:1581852 |
NCBI chr 7:120,071,122...120,077,612
Ensembl chr 7:120,071,124...120,077,612
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G |
Lgals3 |
galectin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29769800 |
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NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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G |
Lipg |
lipase G, endothelial type |
susceptibility |
ISO |
DNA:polymorphism: :584C>T |
RGD |
PMID:17526978 |
RGD:1641818 |
NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
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G |
Lox |
lysyl oxidase |
|
ISO |
|
RGD |
PMID:14553832 |
RGD:1581883 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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G |
Lpl |
lipoprotein lipase |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human) |
RGD |
PMID:18823627 |
RGD:2313302 |
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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G |
Lrp1 |
LDL receptor related protein 1 |
susceptibility |
ISO |
|
RGD |
PMID:12402342 |
RGD:1581913 |
NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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G |
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 OMIM:608446 |
CTD OMIM ClinVar |
PMID:17847002, PMID:18592168, PMID:17847002 |
RGD:2306125, RGD:2306124 |
NCBI chr 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
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G |
Lrpap1 |
LDL receptor related protein associated protein 1 |
susceptibility |
ISO |
|
RGD |
PMID:12394648 |
RGD:1581922 |
NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
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G |
Lta |
lymphotoxin alpha |
no_association susceptibility severity |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null DNA:SNP:exon:804C>A (p.T26N) (human) |
OMIM CTD ClinVar |
PMID:12426569 PMID:12746914 PMID:14681301 PMID:15129282 PMID:15266304, PMID:15175864, PMID:23398946, PMID:12426569 |
RGD:1581940, RGD:8548841, RGD:1580417 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
IEP |
|
RGD |
PMID:20079142 |
RGD:11561913 |
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
treatment |
IMP |
|
RGD |
PMID:22635076 |
RGD:10412335 |
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
IDA |
|
RGD |
PMID:15653762 |
RGD:1582282 |
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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G |
Mdh2 |
malate dehydrogenase 2 |
|
IDA |
|
RGD |
PMID:9753871 |
RGD:1582468 |
NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
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G |
Mdk |
midkine |
|
IEP |
|
RGD |
PMID:9568069 |
RGD:1582488 |
NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
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G |
Mef2a |
myocyte enhancer factor 2a |
|
ISO |
|
RGD |
PMID:15811259 |
RGD:1580548 |
NCBI chr 1:128,207,715...128,341,681
Ensembl chr 1:128,209,971...128,341,263
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G |
Mef2c |
myocyte enhancer factor 2C |
treatment |
IMP |
|
RGD |
PMID:23948075 |
RGD:7327215 |
NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
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|
G |
Mff |
mitochondrial fission factor |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867156, PMID:23867156 |
RGD:12879458 |
NCBI chr 9:88,490,280...88,518,517
Ensembl chr 9:88,493,593...88,517,827
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|
G |
Mfn2 |
mitofusin 2 |
treatment |
IEP |
|
RGD |
PMID:20886221 |
RGD:12738232 |
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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|
G |
Mgp |
matrix Gla protein |
susceptibility |
ISO |
|
RGD |
PMID:11073842 |
RGD:1582503 |
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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|
G |
Mia3 |
MIA SH3 domain ER export factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198609 |
|
NCBI chr13:101,727,434...101,770,127
Ensembl chr13:101,727,935...101,761,541
|
|
G |
Miat |
myocardial infarction associated transcript |
susceptibility |
ISO |
ClinVar Annotator: match by null CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:17066261 |
|
NCBI chr12:50,447,251...50,461,859
|
|
G |
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 chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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|
G |
Mir125b2 |
microRNA 125b-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29122578 |
|
NCBI chr11:16,097,346...16,097,433
|
|
G |
Mir145 |
microRNA 145 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29956747 |
|
NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
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|
G |
Mir155 |
microRNA 155 |
treatment |
ISO |
|
RGD |
PMID:31207208 |
RGD:21066347 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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|
G |
Mir223 |
microRNA 223 |
|
IEP |
RNA:increased expression:heart |
RGD |
PMID:29608885 |
RGD:21408565 |
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
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|
G |
Mir30a |
microRNA 30a |
treatment |
IDA |
|
RGD |
PMID:29849775 |
RGD:35673318 |
NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
|
|
G |
Mir423 |
microRNA 423 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24253456 |
|
NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
|
|
G |
Mir761 |
microRNA 761 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23867156 |
|
NCBI chr 5:128,651,867...128,651,942
Ensembl chr 5:128,651,867...128,651,942
|
|
G |
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
IDA |
|
RGD |
PMID:15782494 |
RGD:1582556 |
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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|
G |
Mmp14 |
matrix metallopeptidase 14 |
|
IEP ISO |
|
RGD |
PMID:10773235, PMID:16461815 |
RGD:1582587, RGD:1582569 |
NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16310260 PMID:24358288, PMID:10773235, PMID:11179039 |
RGD:1582587, RGD:7207136 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:15467919 |
RGD:1580551 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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G |
Mmp7 |
matrix metallopeptidase 7 |
|
ISO |
|
RGD |
PMID:16769909 |
RGD:1582373 |
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
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|
G |
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 |
PMID:16310260 PMID:24358288, PMID:15118287, PMID:25520329, PMID:8531210, PMID:17893005, PMID:14729404, PMID:16845718 |
RGD:1582645, RGD:13204799, RGD:7207198, RGD:7207049, RGD:1582639, RGD:1582653 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
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
Ensembl chr MT:3,904...4,942
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|
G |
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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G |
Myh6 |
myosin heavy chain 6 |
|
IEP |
|
RGD |
PMID:15090263 |
RGD:11565830 |
NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
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G |
Myh7 |
myosin heavy chain 7 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11743230, PMID:15090263 |
RGD:11565830 |
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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G |
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 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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G |
Ndufb5 |
NADH:ubiquinone oxidoreductase subunit B5 |
treatment |
ISO |
|
RGD |
PMID:24692845 |
RGD:13801194 |
NCBI chr 2:119,139,717...119,153,753
Ensembl chr 2:119,139,717...119,153,753
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|
G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
treatment |
IDA ISO |
|
RGD |
PMID:23290949, PMID:24915518 |
RGD:10412734, RGD:10412738 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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|
G |
Nfkbia |
NFKB inhibitor alpha |
treatment |
IEP |
|
RGD |
PMID:19616538 |
RGD:10413879 |
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10090345 PMID:11489778 |
|
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
|
|
G |
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 |
PMID:10510054 PMID:16337503, PMID:10531147, PMID:29311930, PMID:28980197, PMID:22012955, PMID:17637430, PMID:11903359, PMID:12362496 |
RGD:5128481, RGD:13503346, RGD:13450930, RGD:7771563, RGD:7771561, RGD:1580284, RGD:1580283 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Npm1 |
nucleophosmin 1 |
|
ISO |
protein:increased expression:cardiomyocyte: |
RGD |
PMID:21444791 |
RGD:11535018 |
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
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|
G |
Nppa |
natriuretic peptide A |
|
ISO IEP |
DNA:snp:cds:c.2238T>C (human) CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9527094 PMID:11743230, PMID:12514664, PMID:16087130 |
RGD:1579982, RGD:1580000 |
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
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|
G |
Nppb |
natriuretic peptide B |
|
IMP ISO IEP |
|
RGD |
PMID:19858735, PMID:17639095, PMID:17256064 |
RGD:2324680, RGD:7247724, RGD:1642266 |
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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|
G |
Npr1 |
natriuretic peptide receptor 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.M341I (human) |
RGD |
PMID:14646971 |
RGD:1580174 |
NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
|
|
G |
Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16413583 PMID:17587755 |
|
NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
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|
G |
Nrg1 |
neuregulin 1 |
treatment |
ISO |
|
RGD |
PMID:24200746 |
RGD:10449026 |
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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|
G |
Nrip1 |
nuclear receptor interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22503866 |
|
NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
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|
G |
Olr1 |
oxidized low density lipoprotein receptor 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.K167N (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM CTD ClinVar |
PMID:12646194 PMID:12810610 PMID:14684693, PMID:12646194 |
RGD:1580996 |
NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
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|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
treatment |
IEP |
|
RGD |
PMID:20886221 |
RGD:12738232 |
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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|
G |
Oprd1 |
opioid receptor, delta 1 |
|
IDA IMP |
|
RGD |
PMID:12798419, PMID:15076225 |
RGD:2316587, RGD:9831425 |
NCBI chr 5:150,288,126...150,323,063
Ensembl chr 5:150,288,126...150,323,063
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|
G |
Oprk1 |
opioid receptor, kappa 1 |
|
IMP |
|
RGD |
PMID:15076225 |
RGD:9831425 |
NCBI chr 5:13,742,655...13,760,460
Ensembl chr 5:13,744,658...13,760,305
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|
G |
P2ry12 |
purinergic receptor P2Y12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19334620 |
|
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
|
|
G |
Pappa1 |
pappalysin 1 |
susceptibility |
ISO |
DNA:polymorphism:intron CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11586954, PMID:17700210 |
RGD:1642324 |
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
protein:altered processing:left ventricle (mouse) |
RGD |
PMID:21282286 |
RGD:5684012 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
|
|
G |
Pcsk2 |
proprotein convertase subtilisin/kexin type 2 |
|
ISO |
DNA:SNP:intron: (rs6080699) (human) |
RGD |
PMID:20036365 |
RGD:6483554 |
NCBI chr 3:137,618,891...137,923,385
Ensembl chr 3:137,618,898...137,925,605
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|
G |
Pde3a |
phosphodiesterase 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19027736 |
|
NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
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|
G |
Pde5a |
phosphodiesterase 5A |
|
IMP |
|
RGD |
PMID:17339532 |
RGD:2314468 |
NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
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|
G |
Pdgfd |
platelet derived growth factor D |
|
IEP |
mRNA,protein:altered expression:myocardium: |
RGD |
PMID:21767547 |
RGD:9854703 |
NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
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|
G |
Pebp1 |
phosphatidylethanolamine binding protein 1 |
|
IEP |
protein:decreased expression:right heart ventricle, ventricular septum |
RGD |
PMID:17089028 |
RGD:2302667 |
NCBI chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
|
|
G |
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 chr10:94,850,971...94,913,202
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G |
Pgf |
placental growth factor |
|
ISO IMP |
|
RGD |
PMID:20649603, PMID:21329947, PMID:22114497 |
RGD:6483584, RGD:6483777, RGD:6483773 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
|
|
G |
Phactr1 |
phosphatase and actin regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198609 PMID:26098115 |
|
NCBI chr17:23,245,423...23,761,207
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|
G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:20056919 |
RGD:6482688 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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|
G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:19644070 |
RGD:6482786 |
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
|
|
G |
Plat |
plasminogen activator, tissue type |
treatment |
ISO |
DNA:snp:enhancer:g.-7351C>T (human) CTD Direct Evidence: therapeutic |
CTD |
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 |
RGD:1580881, RGD:11541077 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
|
|
G |
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 |
PMID:1908371 PMID:2174952 PMID:2382605 PMID:3068399 PMID:3984876 PMID:8416330, PMID:20518747, PMID:17653104, PMID:20952728 |
RGD:6484126, RGD:6484145, RGD:6484133 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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|
G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO IEP |
mRNA, protein:increased expression:myocardium |
RGD |
PMID:12393744, PMID:20952728 |
RGD:1580897, RGD:6484133 |
NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
|
|
G |
Plcb1 |
phospholipase C beta 1 |
|
IEP |
protein:increased expression:heart |
RGD |
PMID:9521338 |
RGD:2314514 |
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
|
|
G |
Plcb3 |
phospholipase C beta 3 |
|
IEP |
protein:increased expression:heart |
RGD |
PMID:9521338 |
RGD:2314514 |
NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
|
|
G |
Pln |
phospholamban |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16026515 PMID:16162791, PMID:23781262 |
RGD:7327176 |
NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
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|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
|
RGD |
PMID:10978258, PMID:10610741 |
RGD:1580202, RGD:1580198 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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|
G |
Postn |
periostin |
|
IEP |
protein:increased expression:heart: |
RGD |
PMID:24212842 |
RGD:10041024 |
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
|
|
G |
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 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
IEP ISO |
protein:decreased expression:heart (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22503866, PMID:22503866, PMID:22087236 |
RGD:7242181, RGD:6484266 |
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
|
|
G |
Prkce |
protein kinase C, epsilon |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16782078 |
|
NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
|
|
G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
|
ISO |
|
RGD |
PMID:10936861 |
RGD:11100014 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Psma6 |
proteasome 20S subunit alpha 6 |
susceptibility |
ISO |
ClinVar Annotator: match by null CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:16845397 PMID:19282875 |
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NCBI chr 6:76,174,460...76,205,429
Ensembl chr 6:76,174,452...76,205,426
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
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RGD |
PMID:15138244 |
RGD:1581289 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Ptn |
pleiotrophin |
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IEP |
protein:increased expression:myocardium (rat) |
RGD |
PMID:17925408 |
RGD:10044023 |
NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
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G |
Rad50 |
RAD50 double strand break repair protein |
treatment |
IDA |
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RGD |
PMID:15623426 |
RGD:9831390 |
NCBI chr10:39,002,130...39,054,042
Ensembl chr10:39,001,498...39,054,142
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G |
Ranbp1 |
RAN binding protein 1 |
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IEP |
protein:decreased expression:heart ventricle, cytoplasm (rat) |
RGD |
PMID:25341891 |
RGD:9835001 |
NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
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G |
Reg1a |
regenerating family member 1 alpha |
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IEP |
mRNA:increased expression:heart left ventricle (rat) |
RGD |
PMID:15778284 |
RGD:9850130 |
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
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G |
Ren |
renin |
susceptibility |
ISO |
associated with Hypertension; protein:increased activity:plasma (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1668233, PMID:1759997 |
RGD:6892687 |
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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G |
Retn |
resistin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:18997620 |
RGD:7207152 |
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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IEP |
protein:increased threonine phosphorylation:heart left ventricle |
RGD |
PMID:16540832 |
RGD:1642998 |
NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
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G |
S100b |
S100 calcium binding protein B |
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IEP ISO |
mRNA, protein:increased expression:left ventricle myocardium, plasma CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9788975, PMID:19910580 |
RGD:2325647 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Sdc1 |
syndecan 1 |
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IEP |
mRNA:increased expression:myocardium |
RGD |
PMID:9237025 |
RGD:2311712 |
NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
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G |
Sdc4 |
syndecan 4 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:11372670 |
RGD:2312328 |
NCBI chr 3:160,872,503...160,891,190
Ensembl chr 3:160,872,503...160,891,190
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G |
Sell |
selectin L |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10070497 |
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NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
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G |
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 chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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G |
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Sfrp2 |
secreted frizzled-related protein 2 |
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IEP |
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RGD |
PMID:19109969 |
RGD:4107088 |
NCBI chr 2:182,723,732...182,731,277
Ensembl chr 2:182,723,854...182,731,764
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G |
Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
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G |
Shh |
sonic hedgehog signaling molecule |
treatment |
IMP |
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RGD |
PMID:20052412 |
RGD:12879408 |
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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G |
Sirt1 |
sirtuin 1 |
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IEP |
protein:altered localization:nucleus |
RGD |
PMID:20089851 |
RGD:2316169 |
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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G |
Sirt3 |
sirtuin 3 |
treatment |
IEP |
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RGD |
PMID:24471974 |
RGD:9586050 |
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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G |
Slc27a1 |
solute carrier family 27 member 1 |
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IEP |
protein:decreased expression:infarcted heart |
RGD |
PMID:17034771 |
RGD:1642800 |
NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
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G |
Slc27a6 |
solute carrier family 27 member 6 |
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IEP |
protein:decreased expression:heart |
RGD |
PMID:17034771 |
RGD:1642800 |
NCBI chr18:53,609,497...53,667,833
Ensembl chr18:53,609,214...53,667,970
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
treatment |
IEP |
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RGD |
PMID:23361363 |
RGD:9999400 |
NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
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G |
Smad2 |
SMAD family member 2 |
treatment |
IEP |
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RGD |
PMID:11087260 |
RGD:12903276 |
NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
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G |
Smad4 |
SMAD family member 4 |
treatment |
IEP |
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RGD |
PMID:11087260 |
RGD:12903276 |
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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G |
Socs1 |
suppressor of cytokine signaling 1 |
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IEP |
protein:increased expression:heart |
RGD |
PMID:16377761 |
RGD:2298918 |
NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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G |
Sod1 |
superoxide dismutase 1 |
treatment |
ISO |
CTD Direct Evidence: therapeutic human gene in a rat model |
CTD |
PMID:21600015, PMID:11864929, PMID:22006090 |
RGD:1581222, RGD:8655953 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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G |
Sod2 |
superoxide dismutase 2 |
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IDA ISO IEP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12160945, PMID:14575298, PMID:9250167 |
RGD:1581148, RGD:1580839 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Sod3 |
superoxide dismutase 3 |
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ISO |
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RGD |
PMID:14592844 |
RGD:1580841 |
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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