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: | Arterial Occlusive Diseases |
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Accession: | DOID:9006474
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browse the term
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Definition: | Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency. |
Synonyms: | exact_synonym: | Arterial Obstructive Diseases; arterial obstructive disease; arterial occlusive disease |
| related_synonym: | ANTICHYMOTRYPSIN ISEHARA 1 |
| primary_id: | MESH:D001157 |
| alt_id: | RDO:0004908 |
| xref: | EFO:0009085 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Itgb3 |
integrin subunit beta 3 |
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IMP |
neointima |
RGD |
PMID:16793666 |
RGD:4990460 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:SNP: :677C>T (human) |
RGD |
PMID:10477457 |
RGD:10449401 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Plat |
plasminogen activator, tissue type |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15557913 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1713745 PMID:9181759 PMID:9731615 PMID:15557913 |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Serpina3n |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
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ISO |
ClinVar Annotator: match by term: ANTICHYMOTRYPSIN ISEHARA 1 |
ClinVar |
PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868 |
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NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
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Txn1 |
thioredoxin 1 |
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ISO |
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RGD |
PMID:15694802 |
RGD:1580783 |
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Zc3h12a |
zinc finger CCCH type containing 12A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22196138 |
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NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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C3 |
complement C3 |
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ISO |
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RGD |
PMID:26476955 |
RGD:11552746 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cacng4 |
calcium voltage-gated channel auxiliary subunit gamma 4 |
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ISO |
mRNA:decreased expression:blood: |
RGD |
PMID:27746059 |
RGD:13524557 |
NCBI chr10:92,686,100...92,745,601
Ensembl chr10:92,683,761...92,746,126
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Casp3 |
caspase 3 |
treatment |
IEP |
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RGD |
PMID:26550220 |
RGD:13782284 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp7 |
caspase 7 |
treatment |
IEP |
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RGD |
PMID:26550220 |
RGD:13782284 |
NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Gata5 |
GATA binding protein 5 |
susceptibility |
ISO |
DNA:SNPs:promoter:rs80197101, rs77067995 (human) |
RGD |
PMID:33684162 |
RGD:155260335 |
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
IEP |
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RGD |
PMID:26591365 |
RGD:13792778 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: Acute myocardial infarction |
ClinVar |
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Il1rl1 |
interleukin 1 receptor-like 1 |
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IEP |
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RGD |
PMID:24837094 |
RGD:40813741 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33 |
interleukin 33 |
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IEP |
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RGD |
PMID:24837094 |
RGD:40813741 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mir146a |
microRNA 146a |
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ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155 |
microRNA 155 |
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ISO |
miRNA:decreased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21 |
microRNA 21 |
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ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223 |
microRNA 223 |
treatment |
IMP |
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RGD |
PMID:29689569 |
RGD:25823140 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Pten |
phosphatase and tensin homolog |
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IEP |
mRNA:decreased expression:heart left ventricle (rat) |
RGD |
PMID:26973267 |
RGD:11526378 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Serping1 |
serpin family G member 1 |
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ISO IEP |
mRNA:increased expression:heart |
RGD |
PMID:26476955 PMID:26476955 |
RGD:11552746, RGD:11552746 |
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Tbx1 |
T-box transcription factor 1 |
treatment |
IEP |
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RGD |
PMID:27422448 |
RGD:155882497 |
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Edn1 |
endothelin 1 |
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ISO |
protein:increased expression:aortic root, coronary sinus, plasma (human) |
RGD |
PMID:12581682 |
RGD:8661757 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Serpine1 |
serpin family E member 1 |
disease_progression |
ISO |
protein:decreased expression, decreased activity:heart: |
RGD |
PMID:12615902 PMID:12615902 |
RGD:13208541, RGD:13208541 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Apoe |
apolipoprotein E |
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IMP |
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RGD |
PMID:29459263 |
RGD:13703129 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Capn1 |
calpain 1 |
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IEP |
protein:increased activity:aorta |
RGD |
PMID:23006733 |
RGD:13792498 |
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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Ldlr |
low density lipoprotein receptor |
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IMP |
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RGD |
PMID:29459263 |
RGD:13703129 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Ldlrem1Dlli |
low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli |
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IMP |
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RGD |
PMID:29459263 |
RGD:13703129 |
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Mir223 |
microRNA 223 |
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ISO |
RNA:increased expression:serum,aorta |
RGD |
PMID:26065992 |
RGD:25824846 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Soat1 |
sterol O-acyltransferase 1 |
ameliorates |
ISO |
associated with Hypercholesterolemia |
RGD |
PMID:30282838 |
RGD:126925208 |
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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C3 |
complement C3 |
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ISO |
associated with Renal Insufficiency, Chronic; protein:increased expression:serum: |
RGD |
PMID:22863782 |
RGD:7175516 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Abcg5 |
ATP binding cassette subfamily G member 5 |
susceptibility |
ISO |
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RGD |
PMID:11099417 |
RGD:1300331 |
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8 |
ATP binding cassette subfamily G member 8 |
susceptibility |
ISO |
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RGD |
PMID:11099417 |
RGD:1300331 |
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Acat1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
mRNA:increased expression:atherosclerotic lesions (human) |
RGD |
PMID:15961705 |
RGD:1581042 |
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
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RGD |
PMID:16675724 |
RGD:1601111 |
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Aif1 |
allograft inflammatory factor 1 |
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ISO |
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RGD |
PMID:18204784 |
RGD:2313033 |
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Akr1b1 |
aldo-keto reductase family 1 member B1 |
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ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16127462 |
RGD:1626081 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Aldh3a1 |
aldehyde dehydrogenase 3 family, member A1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte |
RGD |
PMID:3949078 |
RGD:2300309 |
NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
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Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
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RGD GAD |
PMID:14702425 PMID:15118671 |
RGD:734559, RGD:1331525 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
mRNA:increased expression:atherosclerotic lesions (human) mRNA:increased expression:aorta, adipose tissue (mouse) |
RGD |
PMID:18258817 PMID:17379835 |
RGD:2313905, RGD:2313913 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
protein:decrease expression:serum |
RGD |
PMID:17010978 |
RGD:1601172 |
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Apoa1 |
apolipoprotein A1 |
treatment |
ISO IDA |
associated with Kidney Failure, Chronic |
GAD RGD |
PMID:15118671 PMID:20639628 |
RGD:1331525, RGD:5508221 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob |
apolipoprotein B |
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ISO |
associated with Obesity |
RGD |
PMID:19260948 |
RGD:2312763 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17118406 PMID:18287887 |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apoh |
apolipoprotein H |
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ISO |
protein:increased expression:serum |
RGD |
PMID:6613192 |
RGD:2313992 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Atm |
ATM serine/threonine kinase |
susceptibility |
ISO |
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RGD |
PMID:15863839 |
RGD:1601249 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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B2m |
beta-2 microglobulin |
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ISO |
associated with Kidney Diseases |
RGD |
PMID:16221094 |
RGD:2311212 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta |
RGD |
PMID:18093596 |
RGD:2306988 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO IEP |
protein:increased secretion:serum (mouse) protein:increased expression:plasma |
RGD |
PMID:19752857 PMID:16259780 PMID:14656931 |
RGD:4891452, RGD:2307165, RGD:4890030 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
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RGD |
PMID:17138939 |
RGD:4890431 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36 |
CD36 molecule |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:18723424 |
RGD:2307207 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cdh13 |
cadherin 13 |
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ISO |
protein:increased expression:aorta |
RGD |
PMID:11326751 |
RGD:2293555 |
NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
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Chi3l1 |
chitinase 3 like 1 |
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ISO |
protein:increased expression:artery, plaque, macrophage (human) |
RGD |
PMID:10073974 |
RGD:4892604 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:12600915 |
RGD:4891900 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Dusp1 |
dual specificity phosphatase 1 |
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ISO |
protein:increased expression:aorta |
RGD |
PMID:15242861 |
RGD:2298676 |
NCBI chr10:16,680,489...16,683,276
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Egr1 |
early growth response 1 |
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ISO |
mRNA, protein:increased expression:carotid artery, plaque (human) protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse) |
RGD |
PMID:10712437 PMID:21099169 PMID:14670837 |
RGD:5131645, RGD:5131874, RGD:5131652 |
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Esr1 |
estrogen receptor 1 |
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ISO |
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RGD |
PMID:17903303 |
RGD:4892301 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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F13a1 |
coagulation factor XIII A1 chain |
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ISO |
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RGD |
PMID:11941274 |
RGD:1581023 |
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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F7 |
coagulation factor VII |
severity |
ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:9569183 |
RGD:2312403 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:14739407 |
RGD:1582424 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fbln5 |
fibulin 5 |
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ISO |
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RGD |
PMID:10428823 |
RGD:69830 |
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Furin |
furin (paired basic amino acid cleaving enzyme) |
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ISO |
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RGD |
PMID:15756593 |
RGD:1582622 |
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
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Gata2 |
GATA binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28569748 |
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NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:17420349 |
RGD:2306610 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsta4 |
glutathione S-transferase alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:15064094 PMID:20177342 |
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NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
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Hgf |
hepatocyte growth factor |
severity |
ISO |
protein:increased expression:serum: |
RGD |
PMID:9350587 |
RGD:8548601 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmox1 |
heme oxygenase 1 |
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ISO |
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RGD |
PMID:12958201 |
RGD:1598395 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp |
haptoglobin |
susceptibility |
ISO |
associated with Hypertension;DNA:polymorphism |
RGD |
PMID:8228210 PMID:17068284 |
RGD:1626352, RGD:1626340 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hs3st1 |
heparan sulfate-glucosamine 3-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Arteriosclerosis |
ClinVar |
PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 PMID:17558387 PMID:17568005 PMID:19122651 PMID:19303047 PMID:19858363 PMID:21152010 PMID:22090374 PMID:28126521 More...
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NCBI chr14:71,185,826...71,223,263
Ensembl chr14:71,185,682...71,223,248
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
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RGD |
PMID:17070529 |
RGD:1624204 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28569748 |
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NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Icos |
inducible T-cell co-stimulator |
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ISO |
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RGD |
PMID:17060381 |
RGD:1624268 |
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
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RGD |
PMID:20655098 |
RGD:6480271 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:15625284 |
RGD:2313768 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:15625284 |
RGD:2313768 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
|
RGD |
PMID:16523426 PMID:12765335 |
RGD:1598477, RGD:1598469 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il15 |
interleukin 15 |
|
ISO |
mRNA:increased expression:macrophage, aorta mRNA:increased expression:carotid |
RGD |
PMID:11485899 PMID:11485899 |
RGD:1626612, RGD:1626612 |
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il18bp |
interleukin 18 binding protein |
|
ISO |
|
RGD |
PMID:11577031 |
RGD:4892618 |
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO IEP |
DNA:SNP:promoter associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte associated with Chlamydia Infections |
RGD |
PMID:17213232 PMID:17189873 PMID:17132885 |
RGD:1626624, RGD:1626627, RGD:1626629 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:17664290 PMID:17664290 |
RGD:1626686, RGD:1626686 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Itga1 |
integrin subunit alpha 1 |
|
ISO |
atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice (mouse) |
RGD |
PMID:15976328 |
RGD:2302133 |
NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238
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G |
Itga2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
|
RGD |
PMID:11978651 |
RGD:1582304 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itga7 |
integrin subunit alpha 7 |
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IEP |
Atherogenesis |
RGD |
PMID:14988073 |
RGD:1600025 |
NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
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RGD |
PMID:12746502 |
RGD:5100478 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Kdr |
kinase insert domain receptor |
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IEP ISO |
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RGD |
PMID:15665766 PMID:16873710 |
RGD:1581706, RGD:1581713 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kl |
Klotho |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9363890 PMID:9363890 |
RGD:10403047 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Lcat |
lecithin cholesterol acyltransferase |
susceptibility |
ISO |
|
RGD |
PMID:12673583 PMID:12673583 |
RGD:1581779, RGD:1581779 |
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
|
RGD |
PMID:12969990 |
RGD:1581826 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Lepr |
leptin receptor |
|
ISO |
|
RGD |
PMID:11460888 |
RGD:1581846 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lipe |
lipase E, hormone sensitive type |
|
IDA ISO |
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RGD |
PMID:10064727 PMID:10729384 |
RGD:1581868, RGD:1581867 |
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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G |
Lipg |
lipase G, endothelial type |
|
ISO |
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RGD |
PMID:15304490 |
RGD:1581874 |
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
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G |
Lmna |
lamin A/C |
|
IEP |
protein:increased expression:aorta |
RGD |
PMID:16620292 |
RGD:2302364 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Lox |
lysyl oxidase |
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IDA |
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RGD |
PMID:24127 |
RGD:1581899 |
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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G |
Lrp1 |
LDL receptor related protein 1 |
susceptibility |
ISO |
associated with Hypercholesterolemia |
RGD |
PMID:17303763 PMID:14739216 |
RGD:1625012, RGD:1581910 |
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Lta |
lymphotoxin alpha |
|
ISO |
|
RGD |
PMID:11809756 |
RGD:1581936 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Ltb4r |
leukotriene B4 receptor |
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ISO |
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RGD |
PMID:16043658 |
RGD:1581956 |
NCBI chr15:29,263,126...29,265,716
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
ameliorates |
IMP |
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RGD |
PMID:35078016 |
RGD:155804282 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mapk9 |
mitogen-activated protein kinase 9 |
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ISO |
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RGD |
PMID:15567863 |
RGD:1582314 |
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
protein:increased expression:femoral artery, atherosclerotic lesions (human) |
RGD |
PMID:17405187 |
RGD:2317493 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgp |
matrix Gla protein |
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ISO |
|
RGD |
PMID:8200973 |
RGD:1582504 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
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RGD |
PMID:17435771 |
RGD:1641949 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
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RGD |
PMID:15621056 |
RGD:1582525 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:16221765 |
RGD:1582354 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
susceptibility |
ISO |
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RGD |
PMID:12392760 PMID:16230484 |
RGD:1582549, RGD:1582544 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp14 |
matrix metallopeptidase 14 |
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IEP |
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RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:15823277 |
RGD:1580550 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
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IDA ISO |
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RGD |
PMID:16317521 PMID:15823277 |
RGD:1582628, RGD:1580550 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msr1 |
macrophage scavenger receptor 1 |
|
ISO |
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RGD |
PMID:14664792 PMID:15567863 PMID:9069289 |
RGD:2306130, RGD:1582314, RGD:1582669 |
NCBI chr16:52,717,775...52,802,890
Ensembl chr16:52,717,732...52,799,676
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G |
Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
IEP |
protein:increased expression:aorta |
RGD |
PMID:16620292 |
RGD:2302364 |
NCBI chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258
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G |
Nfkbia |
NFKB inhibitor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28569748 |
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nme2 |
NME/NM23 nucleoside diphosphate kinase 2 |
|
ISO |
protein:decreased expression:artery |
RGD |
PMID:17272673 |
RGD:2299058 |
NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
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G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
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RGD |
PMID:16627802 |
RGD:1642131 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:14736551 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch4 |
notch receptor 4 |
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ISO |
|
RGD |
PMID:18802018 |
RGD:6480862 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G |
Npc1l1 |
NPC1 like intracellular cholesterol transporter 1 |
|
ISO |
|
RGD |
PMID:17218600 |
RGD:1642183 |
NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113
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G |
Nppc |
natriuretic peptide C |
|
ISO |
|
RGD |
PMID:8989116 |
RGD:1642296 |
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Npy |
neuropeptide Y |
|
ISO |
DNA:missense mutation:cds:p.L7P (human) |
RGD |
PMID:11689216 |
RGD:1580177 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
ISO |
|
RGD |
PMID:19295309 |
RGD:6480535 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Pappa |
pappalysin |
|
ISO |
protein:increased expression:serum mRNA:increased expression:aorta |
RGD |
PMID:16614002 PMID:17510462 |
RGD:1642326, RGD:1642325 |
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G |
Pla2g15 |
phospholipase A2, group XV |
|
ISO |
|
RGD |
PMID:15781238 |
RGD:1582126 |
NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
associated with Metabolic Syndrome X |
RGD |
PMID:16627808 |
RGD:2313273 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
treatment |
IDA |
|
RGD |
PMID:15967870 |
RGD:8553041 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
|
RGD |
PMID:15488866 |
RGD:1580711 |
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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G |
Ptgds |
prostaglandin D2 synthase |
susceptibility |
ISO |
|
RGD |
PMID:15970590 |
RGD:1642581 |
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Ptger4 |
prostaglandin E receptor 4 |
|
ISO |
|
RGD |
PMID:16020747 |
RGD:1581284 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
severity resistance |
ISO |
|
RGD |
PMID:17643885 PMID:17643885 PMID:16458279 |
RGD:1642592, RGD:1642592, RGD:1581287 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
IEP |
protein:increased expression:aorta |
RGD |
PMID:18637019 |
RGD:2298774 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Senp1 |
SUMO specific peptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28569748 |
|
NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598
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G |
Serpina1 |
serpin family A member 1 |
disease_progression |
ISO |
DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12692006 PMID:12692006 |
RGD:1643145 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Soat2 |
sterol O-acyltransferase 2 |
susceptibility |
ISO |
|
RGD |
PMID:17431188 |
RGD:1625282 |
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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G |
Tbxa2r |
thromboxane A2 receptor |
|
TAS |
|
RGD |
PMID:11777901 |
RGD:619549 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Tbxas1 |
thromboxane A synthase 1 |
|
IDA |
|
RGD |
PMID:11331452 |
RGD:1601459 |
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
protein:increased expression:aorta |
RGD |
PMID:16733295 |
RGD:1580959 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
protein:increased expression:aorta |
RGD |
PMID:16733295 |
RGD:1580959 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
DNA:SNP: :c.896A>G (human) |
RGD |
PMID:16890863 |
RGD:1624159 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
protein:increased expression:carotid artery, atherosclerotic lesions (human) |
RGD |
PMID:11742877 |
RGD:2317295 |
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
susceptibility |
ISO |
|
RGD |
PMID:17442899 |
RGD:1624181 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfsf10 |
TNF superfamily member 10 |
|
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:17000905 |
RGD:2312742 |
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28569748 |
|
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vcan |
versican |
|
TAS |
|
RGD |
PMID:10397680 |
RGD:632588 |
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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G |
Vldlr |
very low density lipoprotein receptor |
|
ISO |
|
RGD |
PMID:10985956 |
RGD:1625570 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Thpo |
thrombopoietin |
|
ISO |
|
RGD |
PMID:10822072 |
RGD:1601656 |
Ensembl chr11:80,182,820...80,188,167
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22022523 |
|
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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|
G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11138003 |
|
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Add1 |
adducin 1 |
|
ISO |
DNA:missense mutation:cds:p.G460W (human) |
RGD |
PMID:17082469 |
RGD:5147995 |
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:18931039 PMID:12451000 |
RGD:8694473 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) |
CTD RGD |
PMID:19939336 PMID:20372816 PMID:22552116 PMID:23936343 PMID:22038096 PMID:21906738 PMID:20835270 PMID:21418204 More...
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RGD:6784514, RGD:8695994, RGD:7245947, RGD:6767557, RGD:6784516, RGD:6784515 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
treatment |
IMP ISO |
associated with Hypertension CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21925196 PMID:22539767 PMID:22977667 |
RGD:8549467 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228805 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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|
G |
Akt1 |
AKT serine/threonine kinase 1 |
severity |
ISO |
|
RGD |
PMID:18054314 |
RGD:5509083 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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|
G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:16303615 PMID:18206890 |
RGD:5509610 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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|
G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16698924 |
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NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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|
G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16698924 |
|
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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G |
Apoa1 |
apolipoprotein A1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:33861588 PMID:18287885 PMID:23078847 |
RGD:7241575, RGD:7241852 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15822908 |
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NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoe |
apolipoprotein E |
treatment |
ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9169506 PMID:9409251 PMID:9649566 PMID:11095717 PMID:11231916 PMID:11947894 PMID:12871831 PMID:14594625 PMID:16020748 PMID:16303615 PMID:17438151 PMID:18093987 PMID:18269830 PMID:19124646 PMID:19682479 PMID:20093625 PMID:21043830 PMID:21512104 PMID:21908651 PMID:22005275 PMID:22022523 PMID:22228805 PMID:23148895 PMID:23639522 PMID:24017971 PMID:24096154 PMID:24330719 PMID:25020133 PMID:28483571 PMID:30376133 PMID:33861588 PMID:34673409 PMID:1411543 PMID:30796231 PMID:7593602 More...
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RGD:734968, RGD:150521536, RGD:7771549 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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|
G |
Bcl3 |
BCL3, transcription coactivator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25374339 |
|
NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
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|
G |
Casp3 |
caspase 3 |
treatment |
IEP |
associated with type 2 diabetes mellitus |
RGD |
PMID:29213335 |
RGD:13792600 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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|
G |
Casr |
calcium-sensing receptor |
|
ISO IEP |
protein:decreased expression:tibial artery (human) protein:increased expression:myocardium (rat) |
RGD |
PMID:18852253 PMID:22527939 |
RGD:7205454, RGD:7205672 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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|
G |
Cav1 |
caveolin 1 |
treatment |
IEP |
|
RGD |
PMID:23675421 |
RGD:8662275 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:aorta (mouse) |
CTD RGD |
PMID:12677255 PMID:12928151 PMID:20720404 PMID:11486244 PMID:15823270 |
RGD:8548896, RGD:7401235 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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|
G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24370436 |
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NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24370436 |
|
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
treatment |
ISO |
|
RGD |
PMID:16763157 |
RGD:8549763 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
|
ISO |
|
RGD |
PMID:24114205 |
RGD:7483610 |
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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G |
Cd36 |
CD36 molecule |
treatment |
ISO IEP |
|
RGD |
PMID:19264766 PMID:26003171 PMID:20037584 |
RGD:6893502, RGD:11041151, RGD:6893559 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
treatment |
ISO IDA IEP |
associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta associated with Hypercholesterolemia |
RGD |
PMID:20505314 PMID:23984971 PMID:23984971 PMID:16317521 |
RGD:5490534, RGD:8547801, RGD:8547801, RGD:1582628 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO IDA IEP |
associated with Hypercholesterolemia protein:increased expression:plasma |
RGD |
PMID:20705757 PMID:26261622 PMID:23984971 PMID:16317521 PMID:21817131 |
RGD:5490529, RGD:11344965, RGD:8547801, RGD:1582628, RGD:7248421 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31358993 |
|
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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G |
Clu |
clusterin |
treatment |
IDA |
|
RGD |
PMID:15961700 |
RGD:9068390 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15815632 |
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NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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G |
Col4a2 |
collagen type IV alpha 2 chain |
susceptibility |
ISO |
DNA:SNP: :rs72657934(human) |
RGD |
PMID:28642624 |
RGD:13450936 |
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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|
G |
Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16931792 PMID:18535598 |
RGD:9491769 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
protein:increased expression:plasma (mouse) associated with Kidney Failure, Chronic |
RGD |
PMID:9637704 PMID:16166801 |
RGD:734837, RGD:7257575 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Ctsb |
cathepsin B |
|
ISO |
|
RGD |
PMID:12213722 |
RGD:5687152 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsd |
cathepsin D |
|
ISO |
|
RGD |
PMID:12213722 |
RGD:5687152 |
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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G |
Ctsl |
cathepsin L |
|
ISO |
|
RGD |
PMID:12213722 |
RGD:5687152 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Ctss |
cathepsin S |
|
ISO |
|
RGD |
PMID:12213722 |
RGD:5687152 |
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:23887641 |
RGD:9479739 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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|
G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20720404 |
|
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11166758 PMID:19801147 |
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NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Dll4 |
delta like canonical Notch ligand 4 |
ameliorates treatment |
ISO |
|
RGD |
PMID:22699504 PMID:30909142 |
RGD:155641244, RGD:155663380 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Edn1 |
endothelin 1 |
treatment |
ISO |
|
RGD |
PMID:16806235 |
RGD:8661682 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
treatment |
ISO |
|
RGD |
PMID:26848160 |
RGD:11251766 |
NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777
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G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
|
RGD |
PMID:20224052 |
RGD:5688357 |
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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|
G |
Esr1 |
estrogen receptor 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11894143 PMID:11160157 |
RGD:8553067 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:21697723 |
RGD:5508792 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F11r |
F11 receptor |
|
ISO |
mRNA:increased expression:carotid artery |
RGD |
PMID:15681301 |
RGD:7488921 |
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
F2 |
coagulation factor II |
treatment |
IDA |
|
RGD |
PMID:20979870 |
RGD:7387315 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fas |
Fas cell surface death receptor |
treatment |
IEP |
associated with type 2 diabetes mellitus |
RGD |
PMID:29213335 |
RGD:13792600 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15063428 |
|
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
onset |
ISO |
DNA:polymorphism: :p.H131R (human) |
RGD |
PMID:19490059 |
RGD:5147923 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:17053192 |
RGD:7240526 |
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fgf21 |
fibroblast growth factor 21 |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: |
RGD |
PMID:26047614 |
RGD:10401919 |
NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
treatment |
ISO |
|
RGD |
PMID:24224032 |
RGD:155791446 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Grn |
granulin precursor |
|
ISO |
protein:increased expression:smooth muscle cell, macrophage |
RGD |
PMID:19321167 |
RGD:5509781 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822795 |
|
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
treatment |
ISO |
|
RGD |
PMID:30909142 |
RGD:155663380 |
NCBI chr 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
IEP |
|
RGD |
PMID:20519084 |
RGD:10402182 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
protein:increased expression:internal carotid artery, smooth muscle cell (human) |
RGD |
PMID:18508286 |
RGD:10054381 |
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
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G |
Hp |
haptoglobin |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16597321 PMID:23665315 |
RGD:11041860 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hrh1 |
histamine receptor H 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25020133 |
|
NCBI chr 4:147,564,781...147,649,353
Ensembl chr 4:147,645,995...147,647,455
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16513158 |
|
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
|
ISO |
DNA:SNP:promoter:-110A>C(rs1008438) (human) |
RGD |
PMID:20490736 PMID:22328194 |
RGD:5147595, RGD:7257649 |
NCBI chr20:3,870,765...3,873,221
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12677255 |
|
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9169506 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11726660 |
|
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Il17a |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:21300351 |
RGD:9170237 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
treatment |
IEP ISO |
|
RGD |
PMID:23685195 PMID:16732281 |
RGD:8655997, RGD:14695532 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
associated with Renal Insufficiency, Chronic |
RGD |
PMID:21245127 |
RGD:7175328 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
|
ISO |
associated with Diabetes Mellitus, Type 1 |
RGD |
PMID:21606463 |
RGD:5147904 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il27 |
interleukin 27 |
ameliorates |
ISO |
|
RGD |
PMID:23729211 |
RGD:39456136 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330073 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
|
RGD |
PMID:17303776 |
RGD:8551768 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kl |
Klotho |
|
ISO |
|
RGD |
PMID:11027545 |
RGD:10403056 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Ldlr |
low density lipoprotein receptor |
|
ISO IMP |
CTD Direct Evidence: marker/mechanism|therapeutic DNA:mutation:exon:478T > A(rat) |
CTD RGD |
PMID:11947894 PMID:18450471 PMID:22153697 PMID:25619500 PMID:28899902 PMID:34717031 PMID:9614153 PMID:22293196 More...
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RGD:5490255, RGD:12910105 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Lsm4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926
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G |
Lta4h |
leukotriene A4 hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16698924 |
|
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
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G |
Mir145 |
microRNA 145 |
ameliorates |
ISO |
|
RGD |
PMID:29710501 |
RGD:155260303 |
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir146a |
microRNA 146a |
severity |
ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir155 |
microRNA 155 |
treatment severity |
ISO |
associated with Bacteremia miRNA:decreased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:28970282 PMID:28646427 PMID:31866771 PMID:27856635 |
RGD:21079445, RGD:24922209, RGD:21081515, RGD:21079446 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir21 |
microRNA 21 |
severity |
ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir223 |
microRNA 223 |
|
ISO |
RNA:increased expression:serum,artery |
RGD |
PMID:26065992 |
RGD:25824846 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
human gene in mouse model CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21742783 PMID:11375412 |
RGD:7207025 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP ISO |
|
RGD |
PMID:16317521 PMID:20370796 |
RGD:1582628, RGD:8657031 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33861588 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mrpl45 |
mitochondrial ribosomal protein L45 |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474
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G |
Mthfr |
methylenetetrahydrofolate reductase |
severity |
ISO |
associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) |
RGD |
PMID:17899317 |
RGD:6893579 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28062492 |
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NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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G |
Ngf |
nerve growth factor |
|
ISO |
protein:decreased expression:coronary artery (human) |
RGD |
PMID:11689207 |
RGD:5508382 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:increased expression:adventitia, vasa vasorum (human) |
RGD |
PMID:11689207 |
RGD:5508382 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
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RGD |
PMID:24324141 |
RGD:8158039 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nono |
non-POU domain containing, octamer-binding |
severity |
ISO |
|
RGD |
PMID:29673854 |
RGD:155882449 |
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20720404 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:snp:exon:c.894G>T (human) CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:12677255 PMID:20720404 PMID:21114134 PMID:12163452 |
RGD:7771564, RGD:7771607 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch1 |
notch receptor 1 |
treatment |
ISO |
|
RGD |
PMID:30909142 |
RGD:155663380 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18483620 |
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NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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G |
Nppb |
natriuretic peptide B |
susceptibility |
ISO |
associated with Renal Insufficiency, chronic;protein:increased expression:blood: associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human) |
RGD |
PMID:22863432 PMID:19413180 |
RGD:7247628, RGD:7248594 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Npy |
neuropeptide Y |
severity |
ISO |
|
RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Npy1r |
neuropeptide Y receptor Y1 |
|
ISO |
|
RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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G |
Npy2r |
neuropeptide Y receptor Y2 |
|
ISO |
|
RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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G |
Npy5r |
neuropeptide Y receptor Y5 |
|
ISO |
|
RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30996006 |
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NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18093987 PMID:19124646 PMID:18093987 |
RGD:5683916 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
ISO |
|
RGD |
PMID:11413086 |
RGD:10449506 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity resistance |
ISO |
protein:increased expression:carotid artery (human) |
RGD |
PMID:22053073 PMID:21960570 PMID:17659202 |
RGD:6771176, RGD:6771359, RGD:6771223 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pgf |
placental growth factor |
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ISO |
|
RGD |
PMID:19952000 |
RGD:6483589 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
severity |
ISO |
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RGD |
PMID:17483449 |
RGD:1642394 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pla2g2a |
phospholipase A2 group IIA |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19237014 |
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NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) |
RGD |
PMID:21970837 PMID:12590019 |
RGD:6482784, RGD:7248796 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12677255 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) |
RGD |
PMID:17706748 PMID:15096455 |
RGD:7241201, RGD:7241203 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pltp |
phospholipid transfer protein |
|
ISO |
protein:increased expression:coronary artery (human) |
RGD |
PMID:12835223 |
RGD:1581039 |
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Atherosclerosis, susceptibility to |
ClinVar |
PMID:15732116 PMID:15937083 PMID:18413368 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Pon1 |
paraoxonase 1 |
susceptibility treatment |
ISO |
mRNA:altered expression::human transgene expression in ApoE-KO mice was protective CTD Direct Evidence: marker/mechanism|therapeutic associated with Beta-Thalassemia;protein:decreased activity:serum (human) |
CTD RGD |
PMID:16216721 PMID:16229851 PMID:16331452 PMID:19371607 PMID:21629682 PMID:26241956 PMID:20182519 PMID:21427447 PMID:20660283 PMID:16043712 More...
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RGD:5509927, RGD:11552582, RGD:8547574, RGD:8547562 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pon3 |
paraoxonase 3 |
|
ISO |
mRNA:altered expression::human transgene expression in ApoE-KO mice was protective |
RGD |
PMID:20182519 |
RGD:5509927 |
NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
protein:increased expression:aortic sinus, endothelium (mouse) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:18269830 PMID:15779851 |
RGD:8552894 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ptges3 |
prostaglandin E synthase 3 |
|
ISO |
protein:decreased expression:mammary arteries (human) |
RGD |
PMID:14736553 |
RGD:5688075 |
NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20720404 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Sell |
selectin L |
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ISO |
|
RGD |
PMID:21760899 |
RGD:5685675 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Selp |
selectin P |
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ISO IEP |
protein:increased expression:aorta |
RGD |
PMID:19834105 PMID:22340239 |
RGD:6478699, RGD:6480102 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Sergef |
secretion regulating guanine nucleotide exchange factor |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr 1:96,949,660...97,152,529
Ensembl chr 1:96,949,661...97,152,496
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12677255 |
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NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sirt1 |
sirtuin 1 |
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IEP ISO |
associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20068143 PMID:21810449 |
RGD:9585743 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Soat1 |
sterol O-acyltransferase 1 |
ameliorates |
ISO |
myeloid knockout |
RGD |
PMID:31495784 |
RGD:126925203 |
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330073 |
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NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Sod1 |
superoxide dismutase 1 |
severity |
ISO |
mRNA:decreased expression:thoracic aorta (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20720404 PMID:20347443 |
RGD:8655856 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:12677255 PMID:20720404 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330073 |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stau1 |
staufen double-stranded RNA binding protein 1 |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr 3:155,680,000...155,725,969
Ensembl chr 3:155,680,000...155,725,909
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
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RGD |
PMID:17466307 |
RGD:8552973 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12124407 |
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NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20720404 PMID:15823270 |
RGD:7401235 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Trim28 |
tripartite motif-containing 28 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31351049 |
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NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380
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G |
Trpv1 |
transient receptor potential cation channel, subfamily V, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21908651 |
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NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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G |
Ttpa |
alpha tocopherol transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11095717 |
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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G |
Ubr1 |
ubiquitin protein ligase E3 component n-recognin 1 |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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G |
Ucn2 |
urocortin 2 |
|
ISO |
protein:increased expression:coronary artery, endothelium (human) |
RGD |
PMID:16026900 |
RGD:5508308 |
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12677255 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vdr |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:25801026 |
RGD:14402022 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atherosclerosis, susceptibility to |
CTD ClinVar |
PMID:15732116 PMID:15937083 PMID:18413368 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vegfc |
vascular endothelial growth factor C |
|
ISO |
associated with hypercholesterolemia;protein:increased expression:serum: |
RGD |
PMID:22206010 |
RGD:7483588 |
NCBI chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848
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G |
Vim |
vimentin |
|
ISO |
associated with arthritis,rheumatoid |
RGD |
PMID:21362765 |
RGD:6480618 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Wiz |
WIZ zinc finger |
|
ISO |
associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) |
RGD |
PMID:33381146 |
RGD:155882464 |
NCBI chr 7:11,366,837...11,395,279
Ensembl chr 7:11,367,035...11,395,490
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G |
Atrip |
ATR interacting protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
ClinVar |
PMID:17660818 PMID:21270825 PMID:23881107 PMID:28492532 PMID:35307828 |
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type |
CTD ClinVar |
PMID:8878478 PMID:10371548 PMID:11102981 PMID:11559313 PMID:14714274 PMID:15229130 PMID:15694192 PMID:15834039 PMID:16009764 PMID:16580020 PMID:16717210 PMID:17135568 PMID:19153638 PMID:19242647 PMID:19252787 PMID:19293235 PMID:20038773 PMID:20301673 PMID:20935329 PMID:20975277 PMID:21852154 PMID:22082899 PMID:22259617 PMID:23602593 PMID:23847153 PMID:24139282 PMID:24344756 PMID:24480794 PMID:24840674 PMID:25033846 PMID:25344745 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25914166 PMID:25959358 PMID:26002683 PMID:26308724 PMID:26467025 PMID:26671140 PMID:27245348 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28492532 PMID:28555127 PMID:29544907 PMID:29980472 PMID:30199759 PMID:30311053 PMID:30656190 PMID:31554780 PMID:31792094 PMID:31836585 PMID:31915071 PMID:32122318 PMID:32277177 PMID:32457593 PMID:32573853 PMID:33712516 PMID:34352628 PMID:35300531 More...
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
ClinVar |
PMID:17660818 PMID:21270825 PMID:23881107 PMID:28492532 PMID:35307828 |
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Notch3 |
notch receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts |
OMIM ClinVar |
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10802804 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11571335 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12395806 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16193256 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17135568 PMID:17218610 PMID:17323840 PMID:17389000 PMID:17390743 PMID:17729386 PMID:17761910 PMID:17879445 PMID:17879447 PMID:18386330 PMID:18386331 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19080749 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19488902 PMID:19528524 PMID:19539236 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20169447 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21078731 PMID:21345538 PMID:21387384 PMID:21448560 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22053260 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22206696 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23623146 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24844136 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25033846 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25578324 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25914166 PMID:25929831 PMID:25959358 PMID:25973016 PMID:25980907 PMID:25982499 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26671140 PMID:26715087 PMID:26806700 PMID:26843489 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:26912635 PMID:27174004 PMID:27206574 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28166811 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28601945 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28902129 PMID:28991717 PMID:29188607 PMID:29363903 PMID:29449082 PMID:29980472 PMID:30031255 PMID:30032161 PMID:30199759 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30355220 PMID:30402942 PMID:30532056 PMID:30656190 PMID:30954774 PMID:30956055 PMID:31028544 PMID:31212292 PMID:31418856 PMID:31443546 PMID:31554780 PMID:31792094 PMID:31799216 PMID:31813735 PMID:31915071 PMID:31960911 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32196841 PMID:32277177 PMID:32387185 PMID:32457593 PMID:32552418 PMID:32573853 PMID:32581362 PMID:32612778 PMID:32732295 PMID:33013620 PMID:33020014 PMID:33091750 PMID:33109952 PMID:33268848 PMID:33310205 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34335700 PMID:34841502 More...
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Htra1 |
HtrA serine peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 |
OMIM ClinVar |
PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 PMID:27164673 PMID:28492532 PMID:29561953 PMID:29895533 PMID:30981321 PMID:32101834 PMID:32581362 PMID:34220097 More...
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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F3 |
coagulation factor III, tissue factor |
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IEP |
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RGD |
PMID:9916935 |
RGD:11341701 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
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RGD |
PMID:21489814 |
RGD:155260371 |
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Pdgfd |
platelet derived growth factor D |
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ISO |
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RGD |
PMID:19213942 |
RGD:9854642 |
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19337937 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Plat |
plasminogen activator, tissue type |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1430592 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21062213 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Fgf21 |
fibroblast growth factor 21 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:23887638 |
RGD:10401924 |
NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
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G |
Kmt2d |
lysine methyltransferase 2D |
severity |
ISO |
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RGD |
PMID:26764138 |
RGD:155582215 |
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO |
protein:increased expression:myofibroblast: |
RGD |
PMID:14970114 |
RGD:11556214 |
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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G |
Sirt1 |
sirtuin 1 |
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ISO |
mRNA, protein:decreased expression:carotid artery segment |
RGD |
PMID:23224247 |
RGD:9495924 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
ClinVar Annotator: match by term: Carotid intimal medial thickness 1 |
OMIM ClinVar |
PMID:25741868 PMID:27749844 |
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17243563 |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Clec11a |
C-type lectin domain containing 11A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26564003 |
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NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
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G |
Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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IDA |
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RGD |
PMID:17936728 |
RGD:6483357 |
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26564003 |
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NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
F2 |
coagulation factor II |
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ISO |
DNA:SNP:3'-UTR:in men only (human) |
RGD |
PMID:15748240 |
RGD:5509914 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fabp2 |
fatty acid binding protein 2 |
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ISO |
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RGD |
PMID:16013194 |
RGD:1582392 |
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:14739407 |
RGD:1582424 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
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RGD |
PMID:23426106 |
RGD:11352755 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Il10 |
interleukin 10 |
no_association |
ISO |
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RGD |
PMID:16804000 |
RGD:1598483 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il4 |
interleukin 4 |
treatment |
IEP |
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RGD |
PMID:20498142 |
RGD:7829829 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:15007005 |
RGD:1582450 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Mfn2 |
mitofusin 2 |
treatment |
IMP |
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RGD |
PMID:15322553 |
RGD:1304351 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
DNA:insertion, haplotype:promoter:g.-1607insG (human) |
RGD |
PMID:12364729 |
RGD:1580553 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp14 |
matrix metallopeptidase 14 |
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ISO |
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RGD |
PMID:16147977 |
RGD:1582575 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:16147977 |
RGD:1582575 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
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RGD |
PMID:12364729 |
RGD:1580553 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mt2A |
metallothionein 2A |
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ISO |
DNA:snp:5' utr:g.+838C>G (human) |
RGD |
PMID:17622311 |
RGD:6483844 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only (human) |
RGD |
PMID:15748240 |
RGD:5509914 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Pla2g7 |
phospholipase A2 group VII |
severity |
ISO |
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RGD |
PMID:22075154 |
RGD:6482772 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Procr |
protein C receptor |
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IEP |
associated with Neointima |
RGD |
PMID:21903947 |
RGD:13515129 |
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26564003 |
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NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tlr2 |
toll-like receptor 2 |
treatment |
IDA |
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RGD |
PMID:22167462 |
RGD:7241095 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
treatment |
IDA |
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RGD |
PMID:22167462 |
RGD:7241095 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26564003 |
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NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Vcam1 |
vascular cell adhesion molecule 1 |
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IMP |
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RGD |
PMID:19958991 |
RGD:7240515 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
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RGD |
PMID:20688738 |
RGD:11100028 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Serpinf1 |
serpin family F member 1 |
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IEP |
protein:increased expression:neuroretina (rat) |
RGD |
PMID:21487926 |
RGD:5490120 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Htra1 |
HtrA serine peptidase 1 |
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ISO |
ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease |
OMIM ClinVar |
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 More...
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
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RGD GAD |
PMID:11086027 PMID:15118671 |
RGD:1600951, RGD:1331525 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human) |
RGD |
PMID:12176944 |
RGD:11038788 |
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11099417 PMID:11138003 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11099417 |
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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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 RGD |
PMID:14989558 PMID:12975417 PMID:15118671 |
RGD:1566498, RGD:1331525 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Acp1 |
acid phosphatase 1 |
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ISO |
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RGD |
PMID:19246900 |
RGD:2313179 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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G |
Adamts7 |
ADAM metallopeptidase with thrombospondin type 1 motif, 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr 8:90,704,727...90,744,331
Ensembl chr 8:90,704,727...90,744,328
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:adipose tissue |
RGD |
PMID:17878891 |
RGD:5686802 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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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 chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Adtrp |
androgen-dependent TFPI-regulating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378986 |
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NCBI chr17:22,930,012...22,993,834
Ensembl chr17:22,930,740...22,993,826
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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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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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 chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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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 chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
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RGD |
PMID:18054314 |
RGD:5509083 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
DNA:snps:multiple (human) |
RGD |
PMID:19596330 |
RGD:2313883 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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|
G |
Angptl4 |
angiopoietin-like 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27135400 |
|
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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G |
Anks1a |
ankyrin repeat and sterile alpha motif domain containing 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148
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|
G |
Apcs |
amyloid P component, serum |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12714198 |
|
NCBI chr13:85,373,338...85,374,134
Ensembl chr13:85,373,220...85,374,298
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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 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27135400 PMID:2128269 PMID:15118671 |
RGD:1601188, RGD:1331525 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:17923573 |
RGD:2313956 |
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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|
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 RGD |
PMID:24097064 PMID:15177130 PMID:15306190 |
RGD:2313322, RGD:1578412 |
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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G |
Apob |
apolipoprotein B |
no_association |
ISO |
|
RGD GAD |
PMID:9585673 PMID:15118671 PMID:1732399 |
RGD:1578418, RGD:1331525, RGD:1578417 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24097064 PMID:14709372 PMID:15118671 PMID:15059615 |
RGD:1578443, RGD:1331525, RGD:1626412 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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|
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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Apom |
apolipoprotein M |
susceptibility |
ISO |
DNA:SNP:promoter:g.-778T>C(rs805296)(human) |
RGD |
PMID:17674965 |
RGD:2314241 |
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
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G |
Ar |
androgen receptor |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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|
G |
Bche |
butyrylcholinesterase |
susceptibility |
ISO |
DNA:polymorphism: :p.A539T (human) |
RGD |
PMID:17852836 |
RGD:2306777 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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|
G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
|
ISO |
DNA:SNP: :rs12732361(human), associated with male. |
RGD |
PMID:27461004 |
RGD:14398490 |
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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G |
Btnl2 |
butyrophilin-like 2 |
susceptibility |
ISO |
associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) |
RGD |
PMID:19882345 |
RGD:9685030 |
NCBI chr20:4,490,904...4,502,557
Ensembl chr20:4,489,517...4,503,341
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G |
Carf |
calcium responsive transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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G |
Cbs |
cystathionine beta synthase |
|
ISO |
CBS variant c.844ins68 |
RGD |
PMID:12855221 |
RGD:1600626 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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|
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 RGD |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:16934270 PMID:18940815 PMID:16297799 PMID:9537339 More...
|
RGD:8549513, RGD:8549577 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
susceptibility |
ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:16620281 |
RGD:11081161 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:12742282 |
RGD:5508477 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:12426226 |
RGD:1581178 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:heart (rat) |
RGD |
PMID:17449418 |
RGD:4890438 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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|
G |
Cd14 |
CD14 molecule |
no_association |
ISO |
DNA:SNP:promoter |
RGD |
PMID:18157711 |
RGD:2314154 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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|
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 RGD |
PMID:16368305 PMID:17635572 PMID:22645426 PMID:23819214 PMID:16494885 |
RGD:2314209, RGD:8547776, RGD:7248750, RGD:7248436 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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|
G |
Cdh5 |
cadherin 5 |
|
ISO |
|
RGD |
PMID:14695457 |
RGD:1598391 |
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23104008 PMID:34961328 |
|
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
|
|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:31358993 |
|
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
|
|
G |
Celsr2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:17627189 |
RGD:4892665 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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|
G |
Clcn6 |
chloride voltage-gated channel 6 |
susceptibility |
ISO |
DNA:SNP: :rs3737964(human) |
RGD |
PMID:26740945 |
RGD:14696742 |
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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|
G |
Clu |
clusterin |
|
ISO |
associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma |
RGD |
PMID:20711835 |
RGD:9068393 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
|
|
G |
Crp |
C-reactive protein |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24868163 PMID:19615354 |
RGD:2313344 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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|
G |
Cst3 |
cystatin C |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:17983622 |
RGD:2314352 |
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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|
G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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|
G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
|
RGD GAD |
PMID:14709372 PMID:15118671 |
RGD:1578443, RGD:1331525 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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|
G |
Ddah2 |
dimethylarginine dimethylaminohydrolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17267746 |
|
NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511
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|
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 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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|
G |
Eng |
endoglin |
severity |
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:21667051 |
RGD:7248776 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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|
G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
|
RGD |
PMID:14732757 |
RGD:1580982 |
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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|
G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25245553 |
|
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:SNP: :rs13181(human) |
RGD |
PMID:27566080 |
RGD:12880440 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9396482 PMID:20559769 PMID:16159931 |
RGD:1580335 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20559769 PMID:16099331 |
RGD:1581014 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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|
G |
F2 |
coagulation factor II |
treatment |
ISO |
|
RGD |
PMID:14961168 |
RGD:10449426 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
|
|
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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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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 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
|
|
G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
DNA:polymorphism: :p.H131R (human) |
RGD |
PMID:20973705 |
RGD:5147917 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:SNP:exon:p.F158V (rs396991)(human) |
RGD |
PMID:15910853 |
RGD:5508464 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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|
G |
Fes |
FES proto-oncogene, tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
|
|
G |
Fgb |
fibrinogen beta chain |
|
ISO |
|
RGD |
PMID:8565160 |
RGD:1580382 |
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
associated with Diabetes Mellitus |
RGD |
PMID:14585103 |
RGD:2315879 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
|
|
G |
Furin |
furin (paired basic amino acid cleaving enzyme) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
|
|
G |
Gck |
glucokinase |
susceptibility |
ISO |
DNA:SNP:promoter:-30G>A (human) |
RGD |
PMID:15173029 |
RGD:2301876 |
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
|
|
G |
Gdf15 |
growth differentiation factor 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20855664 |
|
NCBI chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055
|
|
G |
Gfod1 |
glucose-fructose oxidoreductase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr17:21,400,142...21,504,972
Ensembl chr17:21,399,479...21,499,938
|
|
G |
Ggcx |
gamma-glutamyl carboxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
|
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
|
|
G |
Gja4 |
gap junction protein, alpha 4 |
|
ISO |
|
RGD |
PMID:15059615 |
RGD:1626412 |
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
|
|
G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141801 |
|
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
cardiovascular complications in type 2 diabetics DNA:repeat:exon |
RGD |
PMID:16338763 PMID:12655278 |
RGD:1600708, RGD:1600677 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
cardiovascular complications in type 2 diabetics |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent DNA:deletion |
RGD |
PMID:19102712 PMID:16620396 |
RGD:2306625, RGD:2306633 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent DNA:deletion |
RGD |
PMID:19102712 PMID:16620396 |
RGD:2306625, RGD:2306633 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
|
|
G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
|
|
G |
Hectd4 |
HECT domain E3 ubiquitin protein ligase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22751097 |
|
NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
|
|
G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
|
RGD |
PMID:12746412 |
RGD:1582673 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
|
RGD |
PMID:11669408 |
RGD:8548610 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
|
|
G |
Hhipl1 |
HHIP-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
|
NCBI chr 6:127,219,616...127,243,839
Ensembl chr 6:127,220,014...127,242,564
|
|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:12742282 |
RGD:5508477 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
|
|
G |
Hmox1 |
heme oxygenase 1 |
no_association susceptibility |
ISO |
DNA:repeat:promoter CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12136229 PMID:14691581 PMID:12377749 PMID:12136229 |
RGD:1580470, RGD:1580454, RGD:1598401 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp |
haptoglobin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:884791 |
RGD:1626363 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hs3st1 |
heparan sulfate-glucosamine 3-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 PMID:17558387 PMID:17568005 PMID:19122651 PMID:19303047 PMID:19858363 PMID:21152010 PMID:22090374 PMID:28126521 More...
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NCBI chr14:71,185,826...71,223,263
Ensembl chr14:71,185,682...71,223,248
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
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RGD |
PMID:11222468 |
RGD:1624218 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Ica1l |
islet cell autoantigen 1-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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G |
Il10 |
interleukin 10 |
no_association susceptibility |
ISO |
DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) DNA:SNP:promoter:-1082A>G (rs1800896) (human) |
RGD |
PMID:16460885 PMID:29525679 PMID:29525679 |
RGD:1598621, RGD:14975129, RGD:14975129 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15 |
interleukin 15 |
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ISO |
associated with Hypertension;protein:increased expression:serum |
RGD |
PMID:16109314 |
RGD:1626610 |
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il1b |
interleukin 1 beta |
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ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:22780915 |
RGD:7175093 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
DNA:polymorphisms: :-27307T>A, -27614C>A (human) |
RGD |
PMID:20602249 |
RGD:5144241 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il6 |
interleukin 6 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) |
RGD |
PMID:19368923 |
RGD:2307251 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Irs1 |
insulin receptor substrate 1 |
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ISO |
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10591678 PMID:10591678 |
RGD:1624974 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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G |
Itga2 |
integrin subunit alpha 2 |
no_association |
ISO |
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RGD |
PMID:15227729 |
RGD:1582294 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Jcad |
junctional cadherin 5 associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 |
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NCBI chr17:53,089,382...53,130,996
Ensembl chr17:53,089,382...53,130,967
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G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
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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 |
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NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter: -G395>A (human) |
CTD RGD |
PMID:12669274 PMID:16979405 PMID:16579981 |
RGD:1581721, RGD:1581723 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Ldlr |
low density lipoprotein receptor |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21378990 PMID:27135400 PMID:16459141 |
RGD:1581823 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lepr |
leptin receptor |
susceptibility |
ISO |
DNA:SNP:cds:p.Q223R(human) |
RGD |
PMID:27257426 |
RGD:21079462 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lipa |
lipase A, lysosomal acid type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 PMID:34961328 PMID:35590109 |
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NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
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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 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lipg |
lipase G, endothelial type |
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ISO |
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RGD |
PMID:16354105 |
RGD:1580865 |
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
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G |
Lmod1 |
leiomodin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28530674 |
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NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
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G |
LOC102551309 |
uncharacterized LOC102551309 |
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ISO |
DNA:SNP: :rs56001051(human) |
RGD |
PMID:31175347 |
RGD:14696712 |
NCBI chr 5:158,495,514...158,505,671
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Lox |
lysyl oxidase |
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IDA |
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RGD |
PMID:12393934 |
RGD:1581886 |
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Lpl |
lipoprotein lipase |
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ISO |
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RGD |
PMID:8641022 |
RGD:1580537 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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G |
Lrp6 |
LDL receptor related protein 6 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:28492532 |
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NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
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G |
Lrp8 |
LDL receptor related protein 8 |
no_association onset |
ISO |
DNA:missense mutation:cds:p.R952Q (human) |
RGD |
PMID:18592168 PMID:17847002 |
RGD:2306125, RGD:2306124 |
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
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G |
Lta |
lymphotoxin alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15266304 PMID:15973460 |
RGD:1580414 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Lum |
lumican |
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ISO |
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RGD |
PMID:11890723 |
RGD:1582121 |
NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
associated with hypothyroidism;mRNA:decreased expression:venous blood (human) |
RGD |
PMID:32495070 |
RGD:155791451 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mat2a |
methionine adenosyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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G |
Mef2a |
myocyte enhancer factor 2a |
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ISO |
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RGD |
PMID:15811259 |
RGD:1580548 |
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Mia3 |
MIA SH3 domain ER export factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coronary artery disease |
CTD ClinVar |
PMID:21378990 PMID:25741868 PMID:34961328 |
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NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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G |
Mir145 |
microRNA 145 |
disease_progression |
ISO |
miRNA:decreased expression:artery wall (human) |
RGD |
PMID:25938589 |
RGD:11054026 |
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir146a |
microRNA 146a |
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ISO |
CTD Direct Evidence: marker/mechanism miRNA:increased expression:peripheral blood mononuclear cell, plasma |
CTD RGD |
PMID:20524934 PMID:31866771 |
RGD:21081515 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir146b |
microRNA 146b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
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NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
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G |
Mir155 |
microRNA 155 |
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ISO |
miRNA:decreased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir21 |
microRNA 21 |
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ISO |
miRNA:increased expression:peripheral blood mononuclear cell, plasma |
RGD |
PMID:31866771 |
RGD:21081515 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir223 |
microRNA 223 |
treatment |
ISO |
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RGD |
PMID:25350775 |
RGD:11076984 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human) |
RGD |
PMID:15619398 PMID:17893005 |
RGD:1582527, RGD:7207049 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp12 |
matrix metallopeptidase 12 |
susceptibility |
ISO |
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RGD |
PMID:10807873 |
RGD:1582366 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human) CTD Direct Evidence: marker/mechanism associated with Mucocutaneous Lymph Node Syndrome |
CTD RGD |
PMID:8662692 PMID:17893005 PMID:16100452 |
RGD:7207049, RGD:8693322 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
susceptibility treatment |
ISO IEP |
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RGD |
PMID:15191941 PMID:26261622 |
RGD:1582644, RGD:11344965 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mras |
muscle RAS oncogene homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:35590109 |
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NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
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G |
Mrps6 |
mitochondrial ribosomal protein S6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:34961328 |
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NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nampt |
nicotinamide phosphoribosyltransferase |
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ISO |
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RGD |
PMID:17283255 |
RGD:1642340 |
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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G |
Nat2 |
N-acetyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21572414 |
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NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nbeal1 |
neurobeachin-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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G |
Ngf |
nerve growth factor |
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ISO |
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RGD |
PMID:11935372 |
RGD:1580935 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
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ISO |
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RGD |
PMID:11935372 |
RGD:1580935 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
DNA:polymorphisms: :p.G908R, 3020_3021insC (human) |
RGD |
PMID:21565239 |
RGD:5508725 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte |
RGD |
PMID:14764920 |
RGD:1580941 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:duplication:intron:IVS4?-?+27 (human) CTD Direct Evidence: marker/mechanism DNA:snp:promoter:g.-786T>C (human) DNA:snp:cds:c.894G>T (human) |
CTD RGD |
PMID:10510054 PMID:14989558 PMID:17267746 PMID:19696404 PMID:8564837 PMID:19761682 PMID:16284093 More...
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RGD:7421529, RGD:7771578, RGD:7771567 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppa |
natriuretic peptide A |
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ISO |
DNA:snp:cds:c.2238T>C (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human) |
RGD |
PMID:12514664 PMID:22170009 |
RGD:1579982, RGD:7247716 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb |
natriuretic peptide B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18022110 |
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NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
DNA:missense mutation:cds:p.N363S (human) |
RGD |
PMID:12623935 |
RGD:1580790 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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G |
Pappa |
pappalysin |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11586954 PMID:16055491 |
RGD:1642327 |
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G |
Parl |
presenilin associated, rhomboid-like |
susceptibility |
ISO |
DNA:missense mutation:cds:p.L262V (human) |
RGD |
PMID:18758826 |
RGD:12902623 |
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:27135400 |
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NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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G |
Pdgfd |
platelet derived growth factor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378988 PMID:34961328 |
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NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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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 RGD |
PMID:28530674 PMID:11795274 PMID:10780329 PMID:12732396 |
RGD:2311656, RGD:6771225, RGD:1581010 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:22751097 PMID:26098115 PMID:34961328 |
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NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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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 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plpp3 |
phospholipid phosphatase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
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G |
Pnpla3 |
patatin-like phospholipase domain containing 3 |
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ISO |
associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) |
RGD |
PMID:31377187 |
RGD:14981594 |
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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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 RGD |
PMID:7916578 PMID:8098250 PMID:8675673 PMID:8770857 PMID:9215303 PMID:9385372 PMID:9443884 PMID:11238489 PMID:11810302 PMID:11888590 PMID:12082503 PMID:15241482 PMID:21170047 PMID:21629682 PMID:10729395 PMID:15785307 PMID:11917194 More...
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RGD:1580196, RGD:8547681, RGD:1580203 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pon2 |
paraoxonase 2 |
severity |
ISO |
DNA:missense mutation:cds:p.C311S (human) |
RGD |
PMID:12454802 |
RGD:1580217 |
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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Ppara |
peroxisome proliferator activated receptor alpha |
susceptibility |
ISO |
DNA:snp:intron: (human) |
RGD |
PMID:16043164 |
RGD:1580228 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) |
RGD |
PMID:21709632 |
RGD:8552814 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Prdm16 |
PR/SET domain 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35590109 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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G |
Procr |
protein C receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28530674 |
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NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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G |
Psrc1 |
proline and serine rich coiled-coil 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14642682 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Pth |
parathyroid hormone |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:23460043 |
RGD:7242420 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
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ISO |
DNA: snp: cds: rs2476601 |
RGD |
PMID:21846984 |
RGD:6484553 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
Sars1 |
seryl-tRNA synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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G |
Sele |
selectin E |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) ClinVar Annotator: match by term: Coronary artery disease |
ClinVar RGD |
PMID:25741868 PMID:17578587 |
RGD:2313596 |
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Selp |
selectin P |
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ISO |
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis |
ClinVar |
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NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:7832094 |
RGD:1643149 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:insertion:promoter: (human) |
RGD |
PMID:9484978 |
RGD:1580190 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf2 |
serpin family F member 2 |
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ISO |
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RGD |
PMID:9184412 |
RGD:1625532 |
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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G |
Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Slc5a3 |
solute carrier family 5 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease |
ClinVar |
PMID:25741868 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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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 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod3 |
superoxide dismutase 3 |
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ISO |
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RGD |
PMID:10811593 |
RGD:1580853 |
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Sort1 |
sortilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:34961328 |
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NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
In type 2 diabetic patients |
RGD |
PMID:21034455 |
RGD:6903271 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tbx2 |
T-box transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35590109 |
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NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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G |
Tcf21 |
transcription factor 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 PMID:22751097 |
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NCBI chr 1:22,701,353...22,704,212
Ensembl chr 1:22,701,353...22,704,202
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G |
Tek |
TEK receptor tyrosine kinase |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:12814387 |
RGD:1601489 |
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16890917 |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Thbd |
thrombomodulin |
severity |
ISO |
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RGD |
PMID:17012137 |
RGD:1601638 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20524934 PMID:15632890 |
RGD:1580736 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:15059615 |
RGD:1626412 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15926884 |
RGD:1620893 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
severity |
ISO |
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RGD |
PMID:19845893 |
RGD:5131425 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnni3 |
troponin I3, cardiac type |
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ISO |
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RGD |
PMID:12221049 |
RGD:1580780 |
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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G |
Tp53 |
tumor protein p53 |
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ISO |
DNA:misssense mutation: :p.R72P (rs1042522) (human) |
RGD |
PMID:29482350 |
RGD:14995930 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Traf6 |
TNF receptor associated factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20524934 |
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NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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G |
Trib1 |
tribbles pseudokinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097064 |
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NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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G |
Ttn |
titin |
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ISO |
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RGD |
PMID:12221049 |
RGD:1580780 |
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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G |
Vamp5 |
vesicle-associated membrane protein 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212
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G |
Vamp8 |
vesicle-associated membrane protein 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34961328 |
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NCBI chr 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897
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G |
Vdr |
vitamin D receptor |
severity |
ISO |
DNA:SNP (human) |
RGD |
PMID:9761785 |
RGD:4889864 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:14668888 PMID:15937083 PMID:15754021 |
RGD:1580569 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vim |
vimentin |
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ISO |
protein:increased expression:monocyte |
RGD |
PMID:21938407 |
RGD:6480617 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vtn |
vitronectin |
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ISO |
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RGD |
PMID:15678274 |
RGD:1580816 |
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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G |
Wdr12 |
WD repeat domain 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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G |
Wrn |
WRN RecQ like helicase |
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ISO |
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RGD |
PMID:11186893 |
RGD:1580824 |
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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G |
Zc3hc1 |
zinc finger, C3HC-type containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21378990 |
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NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933
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G |
Mef2a |
myocyte enhancer factor 2a |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction |
OMIM ClinVar |
PMID:14645853 PMID:15496429 PMID:15841183 |
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NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Lrp6 |
LDL receptor related protein 6 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 |
OMIM ClinVar |
PMID:17332414 PMID:23703864 PMID:25741868 PMID:28492532 |
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NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease, development of, in hiv |
ClinVar |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 |
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19911011 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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G |
Nos3 |
nitric oxide synthase 3 |
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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 PMID:25741868 More...
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Pon1 |
paraoxonase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11810302 |
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NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9236417 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12138120 |
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NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Bche |
butyrylcholinesterase |
susceptibility |
ISO |
DNA:polymorphism: :p.A539T (human) |
RGD |
PMID:17275003 |
RGD:2306778 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Cdh13 |
cadherin 13 |
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IEP |
protein:increased expression:artery, smooth muscle cell |
RGD |
PMID:12376824 |
RGD:2293553 |
NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:14578618 |
RGD:1598500 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:14578618 |
RGD:1598500 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
F2r |
coagulation factor II (thrombin) receptor |
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ISO |
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RGD |
PMID:14529396 |
RGD:1581036 |
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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G |
Hmox1 |
heme oxygenase 1 |
susceptibility |
ISO |
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RGD |
PMID:16020495 PMID:14529548 |
RGD:1598402, RGD:1580472 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
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RGD |
PMID:11703955 |
RGD:1581185 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Lox |
lysyl oxidase |
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IDA |
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RGD |
PMID:15218472 |
RGD:1581881 |
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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IDA |
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RGD |
PMID:15583728 |
RGD:1582284 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:5' utr, exon:multiple (human) |
RGD |
PMID:15790942 |
RGD:1582150 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8662692 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
treatment |
IEP |
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RGD |
PMID:21139058 |
RGD:9685362 |
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16489563 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
treatment |
IDA |
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RGD |
PMID:7955204 |
RGD:10059621 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Npy5r |
neuropeptide Y receptor Y5 |
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IEP |
mRNA, protein:increased expression:carotid artery |
RGD |
PMID:12689918 |
RGD:1625501 |
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:12114325 PMID:16373617 |
RGD:1581358, RGD:1581366 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16319143 PMID:16319143 |
RGD:1580322 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:14740296 |
RGD:1580742 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ucp3 |
uncoupling protein 3 |
susceptibility |
ISO |
DNA:polymorphism:promoter:-55C>T (human) |
RGD |
PMID:17786284 |
RGD:2313513 |
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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G |
Apln |
apelin |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19015606 |
RGD:2313942 |
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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G |
Edn1 |
endothelin 1 |
treatment |
ISO |
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RGD |
PMID:10854676 |
RGD:8661796 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Hrh2 |
histamine receptor H 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
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NCBI chr17:10,368,355...10,407,791
Ensembl chr17:10,368,298...10,407,631
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G |
Igf1 |
insulin-like growth factor 1 |
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IEP |
mRNA:increased expression:myocyte: |
RGD |
PMID:8102103 |
RGD:10046053 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
mRNA:increased expression:myocyte: |
RGD |
PMID:8102103 |
RGD:10046053 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Itgav |
integrin subunit alpha V |
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IDA |
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RGD |
PMID:11922905 |
RGD:1582454 |
NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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G |
Mdk |
midkine |
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IDA |
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RGD |
PMID:10683378 |
RGD:1299187 |
NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Nppa |
natriuretic peptide A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12721106 |
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NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
DNA:missense mutations:cds:p.L125V, p.S563N (human) |
RGD |
PMID:10571959 |
RGD:1598382 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Prkce |
protein kinase C, epsilon |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16782078 |
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NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15569000 |
RGD:1624167 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8598867 |
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1452937 PMID:8172379 PMID:15301905 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds: (human) |
RGD |
PMID:19279659 |
RGD:7495846 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Hypertension resistant to conventional therapy |
ClinVar |
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 More...
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
mRNA:increased expression:ventricular myocardium (human) mRNA:increased expression:myocardium |
RGD |
PMID:15131005 PMID:11451295 |
RGD:8142363, RGD:8548894 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Agt |
angiotensinogen |
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ISO |
mRNA:increased expression:myocardium |
RGD |
PMID:11451295 |
RGD:8548894 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
mRNA:increased expression:myocardium |
RGD |
PMID:11451295 |
RGD:8548894 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased serine phosphorylation:platelet |
RGD |
PMID:20467748 |
RGD:5509094 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Apoa4 |
apolipoprotein A4 |
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ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:20367977 |
RGD:5685646 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Bdnf |
brain-derived neurotrophic factor |
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ISO |
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RGD |
PMID:16186425 |
RGD:4891111 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Crp |
C-reactive protein |
disease_progression |
ISO |
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RGD |
PMID:9761079 |
RGD:9491780 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Edn1 |
endothelin 1 |
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ISO |
associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) |
RGD |
PMID:14556009 |
RGD:8661755 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
F7 |
coagulation factor VII |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:10653827 |
RGD:2312399 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:18333374 |
RGD:5508458 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Itga2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
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RGD |
PMID:15104219 |
RGD:1582303 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
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ISO |
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RGD |
PMID:10486281 |
RGD:1582334 |
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
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RGD |
PMID:14675588 |
RGD:1582536 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Pappa |
pappalysin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11586954 |
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NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2382605 |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Selp |
selectin P |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21162967 |
RGD:6219003 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
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RGD |
PMID:8122184 |
RGD:11035255 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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G |
Sod3 |
superoxide dismutase 3 |
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ISO |
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RGD |
PMID:14592844 |
RGD:1580841 |
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Txn1 |
thioredoxin 1 |
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ISO |
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RGD |
PMID:15749180 |
RGD:1580784 |
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Bad |
BCL2-associated agonist of cell death |
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IEP |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bak1 |
BCL2-antagonist/killer 1 |
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IEP |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bbc3 |
Bcl-2 binding component 3 |
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IEP |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
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G |
Casp3 |
caspase 3 |
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IDA |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Eif3e |
eukaryotic translation initiation factor 3 subunit E |
treatment |
IMP |
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RGD |
PMID:21771896 |
RGD:10395378 |
NCBI chr 7:74,339,848...74,372,483
Ensembl chr 7:74,339,828...74,373,096
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G |
Epas1 |
endothelial PAS domain protein 1 |
treatment |
IDA |
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RGD |
PMID:21771896 |
RGD:10395378 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Mdm2 |
MDM2 proto-oncogene |
treatment |
IEP |
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RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Sirt2 |
sirtuin 2 |
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IEP |
associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord |
RGD |
PMID:23658678 |
RGD:9586024 |
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy |
ClinVar |
PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
IMP |
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RGD |
PMID:7858885 |
RGD:11522711 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20434300 |
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Serpind1 |
serpin family D member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1831893 |
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NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
ameliorates |
IDA |
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RGD |
PMID:18091551 |
RGD:127284848 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Fas |
Fas cell surface death receptor |
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ISO |
ClinVar Annotator: match by term: Moyamoya disease |
ClinVar |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Moyamoya disease |
ClinVar |
PMID:33568546 |
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
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RGD |
PMID:16723886 |
RGD:1580650 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: MYMY1 |
ClinVar |
PMID:26777256 |
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NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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G |
Endov |
endonuclease V |
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ISO |
ClinVar Annotator: match by term: Moyamoya disease 2 |
ClinVar |
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NCBI chr10:104,760,059...104,777,732
Ensembl chr10:104,760,137...104,775,969
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G |
Rnf213 |
ring finger protein 213 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Moyamoya disease 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 PMID:25278557 PMID:25741868 PMID:26126547 PMID:26530418 PMID:27515544 PMID:28492532 PMID:29483232 PMID:31474762 More...
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
ClinVar Annotator: match by term: Moyamoya disease 5 |
OMIM ClinVar |
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 PMID:17576681 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:21248741 PMID:21288906 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:28166811 PMID:28492532 PMID:28652363 PMID:28659821 PMID:29300374 PMID:30341550 PMID:31911919 More...
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia |
OMIM ClinVar |
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 |
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NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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G |
App |
amyloid beta precursor protein |
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ISO |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:1677459 |
RGD:10054257 |
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:18938189 |
RGD:10054050 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:18938189 |
RGD:10054050 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
IEP |
|
RGD |
PMID:21279683 |
RGD:10449132 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased secretion:mononuclear cell: |
RGD |
PMID:8586980 |
RGD:10047081 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL |
OMIM ClinVar |
PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24951259 PMID:25741868 PMID:26608033 PMID:28492532 PMID:32938213 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
ISO |
ClinVar Annotator: match by term: Myocardial infarction |
ClinVar |
PMID:16563363 PMID:18239147 PMID:20474083 PMID:21846889 PMID:23739550 PMID:23861362 PMID:24033266 PMID:24439875 PMID:25333069 PMID:25741868 PMID:26636822 PMID:26656175 PMID:26764160 PMID:28492532 More...
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Ace |
angiotensin I converting enzyme |
treatment susceptibility |
ISO IEP IMP |
ClinVar Annotator: match by term: Myocardial infarction, susceptibility to CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) associated with Myocardial Reperfusion Injury |
ClinVar CTD RGD |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:25741868 PMID:28492532 PMID:15118671 PMID:23959549 PMID:15671045 PMID:7555560 PMID:21975128 More...
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