RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Abca1
ATP binding cassette subfamily A member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22022523 PMID:29593532
RGD:401827839
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcg1
ATP binding cassette subfamily G member 1
treatment
ISO
RGD
PMID:23650230
RGD:401842363
NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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Abcg5
ATP binding cassette subfamily G member 5
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11138003 PMID:29593532
RGD:401827839
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
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Acaca
acetyl-CoA carboxylase alpha
treatment
ISO
RGD
PMID:33011372
RGD:401842381
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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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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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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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...
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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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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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228805
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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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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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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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16698924
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
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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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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Apoa4
apolipoprotein A4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15822908
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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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...
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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Bcl2
BCL2, apoptosis regulator
IEP
associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)
RGD
PMID:33889291
RGD:329849122
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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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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Carmn
cardiac mesoderm enhancer-associated non-coding RNA
disease_progression
ISO
RNA:decreased expression:carotid artery
RGD
PMID:34289702 PMID:34289702
RGD:155882579 , RGD:155882579
NCBI chr18:55,097,848...55,118,769
Ensembl chr18:55,095,230...55,118,825
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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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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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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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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:23650230 PMID:15823270 More...
RGD:8548896 , RGD:401842363 , RGD:7401235
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24370436
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24370436
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
ameliorates
ISO
RGD
PMID:19122657
RGD:329901820
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn1
cellular communication network factor 1
ameliorates
ISO
ApoE knockout mouse
RGD
PMID:30917686
RGD:329845559
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
IEP
associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)
RGD
PMID:33889291
RGD:329849122
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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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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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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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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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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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:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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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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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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15815632
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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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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Cpe
carboxypeptidase E
ISO
mRNA:decreased expression:carotid plaque (human)
RGD
PMID:30305673
RGD:405650671
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
ISO
RGD
PMID:23650230
RGD:401842363
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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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 chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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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Ctnnb1
catenin beta 1
ameliorates
ISO
RGD
PMID:35854140
RGD:242905195
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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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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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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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Ctss
cathepsin S
ISO
RGD
PMID:12213722
RGD:5687152
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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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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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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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11166758 PMID:19801147
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Dab2ip
DAB2 interacting protein
ISO
protein:alternative forms:coronary artery (human)
RGD
PMID:31619063
RGD:401938615
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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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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Dusp5
dual specificity phosphatase 5
ameliorates
ISO
ApoE knockout mice
RGD
PMID:30529164
RGD:243048424
NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
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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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Egln1
egl-9 family hypoxia-inducible factor 1
treatment
ISO
RGD
PMID:26848160
RGD:11251766
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Elovl5
ELOVL fatty acid elongase 5
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284
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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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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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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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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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F2
coagulation factor II, thrombin
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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Fas
Fas cell surface death receptor
treatment
IEP ISO
associated with type 2 diabetes mellitus
RGD
PMID:29213335 PMID:29593532
RGD:13792600 , RGD:401827839
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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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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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Fcgr2b
Fc gamma receptor 2B
ISO
RGD
PMID:17053192
RGD:7240526
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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Fgf21
fibroblast growth factor 21
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum:
RGD
PMID:26047614
RGD:10401919
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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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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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
sexual_dimorphism
ISO
RGD
PMID:28253220
RGD:329812017
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx3
glutathione peroxidase 3
treatment
IEP
RGD
PMID:21300352
RGD:401827830
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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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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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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H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RNA:increased expression:blood serum (human) ApoE knockout mice ApoE���/��� mice RNA:increased expression:blood plasm (human)
RGD
PMID:28165553 PMID:30529164 PMID:31757932 PMID:32945413 PMID:35854140 PMID:31054453 PMID:33541284 More...
RGD:156430317 , RGD:243048424 , RGD:242905202 , RGD:242905200 , RGD:242905195 , RGD:158013772 , RGD:156430336
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Haao
3-hydroxyanthranilate 3,4-dioxygenase
treatment
ISO
Ldlr knockout mouse
RGD
PMID:31589306
RGD:243065123
NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877
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Hdac4
histone deacetylase 4
ameliorates
ISO
RGD
PMID:35854140
RGD:242905195
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac9
histone deacetylase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36322813
NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
treatment
ISO
RGD
PMID:30909142
RGD:155663380
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hmgb1
high mobility group box 1
treatment
IEP
RGD
PMID:20519084
RGD:10402182
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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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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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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Hrh1
histamine receptor H 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25020133
NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455
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Hspa1a
heat shock protein family A (Hsp70) member 1A
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
Ensembl chr20:3,856,006...3,873,227
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Hspa1b
heat shock protein family A (Hsp70) member 1B
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 Ensembl chr20:3,856,006...3,873,240
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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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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9169506
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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
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
G
Il1b
interleukin 1 beta
ameliorates
ISO
associated with Renal Insufficiency, Chronic
RGD
PMID:21245127 PMID:35854140
RGD:7175328 , RGD:242905195
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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
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
G
Il6
interleukin 6
treatment ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19330073 PMID:29593532 PMID:35854140
RGD:401827839 , RGD:242905195
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Itgam
integrin subunit alpha M
ameliorates
ISO
associated with Hypercholesterolemia;DNA:missense mutation:CDS:p.I332G (mouse) mRNA:increased expression:peripheral blood mononuclear cell (human) protein:increased expression:descending aorta (mouse)
RGD
PMID:32938725 PMID:24716741 PMID:30913515
RGD:329853755 , RGD:329901833 , RGD:329901661
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
G
Jak2
Janus kinase 2
IEP
associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)
RGD
PMID:33889291
RGD:329849122
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO
ApoE knockout mouse
RGD
PMID:18688283
RGD:329955454
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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
G
Khdrbs1
KH RNA binding domain containing, signal transduction associated 1
ameliorates
ISO
ApoE knockout mice
RGD
PMID:30529164
RGD:243048424
NCBI chr 5:142,051,844...142,089,175
Ensembl chr 5:142,063,570...142,089,180
G
Kl
Klotho
ISO
RGD
PMID:11027545
RGD:10403056
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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:36108984 PMID:9614153 PMID:22293196 More...
RGD:5490255 , RGD:12910105
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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
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
G
Mir126b
microRNA 126b
exacerbates
ISO
RGD
PMID:24584117
RGD:401850548
NCBI chr 3:9,415,087...9,415,159
G
Mir140
microRNA 140
ISO
mRNA:increased expression:blood vessel (mouse) miRNA:increased expression:artery (human) miRNA:increased expression:peripheral monocytes (human)
RGD
PMID:30483753 PMID:33495827 PMID:32965005
RGD:329337368 , RGD:329347823 , RGD:329337370
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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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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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
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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Mir17
microRNA 17
treatment
ISO
RGD
PMID:30850242
RGD:329349304
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
G
Mir20a
microRNA 20a
ameliorates
ISO
RGD
PMID:35854140
RGD:242905195
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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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
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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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
G
Mmp2
matrix metallopeptidase 2
ameliorates treatment
IEP ISO
RGD
PMID:16317521 PMID:31757932 PMID:20370796
RGD:1582628 , RGD:242905202 , RGD:8657031
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33861588
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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
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
G
Mtor
mechanistic target of rapamycin kinase
ameliorates
ISO
ApoE knockout mice
RGD
PMID:30529164
RGD:243048424
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:35854140
RGD:242905195
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Mylip
myosin regulatory light chain interacting protein
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr17:19,286,649...19,308,295
Ensembl chr17:19,286,650...19,308,295
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28062492
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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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
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
G
Nnmt
nicotinamide N-methyltransferase
disease_progression
ISO
protein:increased activity:liver (mouse)
RGD
PMID:19307695
RGD:401794447
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:24324141
RGD:8158039
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Nono
non-POU domain containing, octamer-binding
severity
ISO
mRNA, protein:increased expression:coronary artery (human)
RGD
PMID:29673854 PMID:33626912
RGD:155882449 , RGD:155900763
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20720404
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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
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
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18483620
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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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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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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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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
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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Nr1h2
nuclear receptor subfamily 1, group H, member 2
treatment
ISO
RGD
PMID:29593532 PMID:33011372
RGD:401827839 , RGD:401842381
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
treatment
ISO
mRNA:increased expression:carotid artery segment (human)
RGD
PMID:29593532 PMID:33011372 PMID:15528463
RGD:401827839 , RGD:401842381 , RGD:401827901
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30996006
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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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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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Pdgfrb
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:11413086
RGD:10449506
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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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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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:19122657
RGD:329901820
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pgf
placental growth factor
ISO
RGD
PMID:19952000
RGD:6483589
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Phactr1
phosphatase and actin regulator 1
exacerbates
ISO
mRNA:increased expression:carotid artery (human)
RGD
PMID:36091033
RGD:401900131
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
severity
ISO
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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Pla2g2a
phospholipase A2 group IIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19237014
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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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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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12677255
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO
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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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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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Atherosclerosis, susceptibility to
ClinVar
PMID:15732116 PMID:15937083 PMID:18413368
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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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...
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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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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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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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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Ptgis
prostaglandin I2 synthase
ISO
mRNA:decreased expression:artery (human)
RGD
PMID:22112851
RGD:401959395
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20720404
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rbp4
retinol binding protein 4
exacerbates disease_progression
ISO IEP
APOE knockout associated with type 2 diabetes mellitus; mRNA,protein:increased expression:adipose tissue, blood serum (rat)
RGD
PMID:28122883 PMID:33889291
RGD:329845881 , RGD:329849122
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Scd
stearoyl-CoA desaturase
treatment
ISO
RGD
PMID:29593532 PMID:33011372 PMID:23650230
RGD:401827839 , RGD:401842381 , RGD:401842363
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Scd2
stearoyl-Coenzyme A desaturase 2
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr 1:243,169,171...243,182,231
Ensembl chr 1:243,169,236...243,182,232
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Sell
selectin L
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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Selp
selectin P
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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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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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12677255
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sirt1
sirtuin 1
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 chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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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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Socs3
suppressor of cytokine signaling 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19330073
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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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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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12677255 PMID:20720404
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
ISO
RGD
PMID:29593532 PMID:31601342 PMID:33011372 PMID:23650230
RGD:401827839 , RGD:401850587 , RGD:401842381 , RGD:401842363
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2
sterol regulatory element binding transcription factor 2
treatment
ISO
RGD
PMID:23650230
RGD:401842363
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Stat3
signal transducer and activator of transcription 3
ISO IEP
CTD Direct Evidence: marker/mechanism associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)
CTD RGD
PMID:19330073 PMID:33889291
RGD:329849122
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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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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Timp1
TIMP metallopeptidase inhibitor 1
ameliorates
ISO
RGD
PMID:31757932
RGD:242905202
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr2
toll-like receptor 2
ISO
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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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12124407
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
treatment ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20720404 PMID:15823270 PMID:29593532 PMID:35854140
RGD:7401235 , RGD:401827839 , RGD:242905195
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ameliorates
ISO
RGD
PMID:31757932
RGD:242905202
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trim28
tripartite motif-containing 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351049
NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21908651
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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Ttc39b
tetratricopeptide repeat domain 39B
treatment
ISO
RGD
PMID:29593532
RGD:401827839
NCBI chr 5:97,603,329...97,708,103
Ensembl chr 5:97,609,392...97,736,270
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Ttpa
alpha tocopherol transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11095717
NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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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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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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Vcam1
vascular cell adhesion molecule 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12677255 PMID:35854140
RGD:242905195
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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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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Vegfa
vascular endothelial growth factor A
ameliorates
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atherosclerosis, susceptibility to
CTD ClinVar RGD
PMID:15732116 PMID:15937083 PMID:18413368 PMID:31757932
RGD:242905202
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfc
vascular endothelial growth factor C
ISO
associated with hypercholesterolemia;protein:increased expression:serum:
RGD
PMID:22206010
RGD:7483588
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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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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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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Wnt1
Wnt family member 1
ameliorates
ISO
RGD
PMID:35854140
RGD:242905195
NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA,protein:decreased expression:aorta
RGD
PMID:33035679
RGD:401793744
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Apoe
apolipoprotein E
IMP
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
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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Edn1
endothelin 1
exacerbates
ISO
associated with type 1 diabetes mellitus;
RGD
PMID:32533834
RGD:329955566
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Il33
interleukin 33
ISO
protein:increased expression:artery:
RGD
PMID:31043075
RGD:267986209
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ldlr
low density lipoprotein receptor
IMP
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
IMP
RGD
PMID:29459263
RGD:13703129
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Mir223
microRNA 223
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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Myocd
myocardin
exacerbates
ISO
protein:decreased expression:aorta
RGD
PMID:33035679 PMID:33035679
RGD:401793744 , RGD:401793744
NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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Nox1
NADPH oxidase 1
ameliorates
ISO
associated with type 1 diabetes mellitus;
RGD
PMID:32533834
RGD:329955566
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Ppbp
pro-platelet basic protein
ISO
protein:increased expression:thrombus,artery
RGD
PMID:17045893
RGD:401794448
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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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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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:25620171
RGD:329961318
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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Ccn1
cellular communication network factor 1
ISO
protein:increased expression:carotid artery segment (human)
RGD
PMID:16774841
RGD:329845567
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Fgf21
fibroblast growth factor 21
ISO
protein:increased expression:serum:
RGD
PMID:23887638
RGD:10401924
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNP:intron:rs9937354 (human)
RGD
PMID:36894991
RGD:329901850
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Glul
glutamate-ammonia ligase
ISO
RGD
PMID:35667160
RGD:401793760
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Gpx3
glutathione peroxidase 3
ISO
associated with type 2 diabetes mellitus
RGD
PMID:32862561
RGD:401827123
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Hrg
histidine-rich glycoprotein
disease_progression
ISO
protein:increased expression:carotid artery segment (human)
RGD
PMID:16774841
RGD:329845567
NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
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Ifnb1
interferon beta 1
ameliorates
ISO
RGD
PMID:17466308
RGD:401854230
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Itln1
intelectin 1
severity
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:24956535
RGD:329845846
NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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Kmt2d
lysine methyltransferase 2D
severity
ISO
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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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
protein:increased expression:carotid artery segment (human)
RGD
PMID:16774841
RGD:329845567
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
exacerbates
ISO
DNA:silent mutation:exon 4:c.297C>T (rs2279238) (human)
RGD
PMID:35907563
RGD:401842367
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Pcsk5
proprotein convertase subtilisin/kexin type 5
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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Phactr1
phosphatase and actin regulator 1
severity
ISO
DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human)
RGD
PMID:31200082
RGD:401900133
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Rbp4
retinol binding protein 4
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:24956535
RGD:329845846
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Sirt1
sirtuin 1
ISO
mRNA, protein:decreased expression:carotid artery segment
RGD
PMID:23224247
RGD:9495924
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carotid intimal medial thickness 1
OMIM CTD ClinVar
PMID:25741868 PMID:27749844
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Kalrn
kalirin, RhoGEF kinase
susceptibility
ISO
DNA:SNP:intron: (rs6438833) (human)
RGD
PMID:30232674
RGD:329956416
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Serpina3n
serpin family A member 3N
ISO
ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1
ClinVar
PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16321391
RGD:5686716
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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B2m
beta-2 microglobulin
severity
ISO
RGD
PMID:21314441
RGD:6482704
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27082954
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp8a
bone morphogenetic protein 8a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27082954
NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785
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Ccn1
cellular communication network factor 1
severity
ISO
associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human)
RGD
PMID:33222686
RGD:329845552
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Dab2ip
DAB2 interacting protein
ISO
DNA:SNP:CDS:intron 1 (rs7025486) (human)
RGD
PMID:20622881
RGD:401901599
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Gch1
GTP cyclohydrolase 1
treatment
ISO
associated with Experimental Diabetes Mellitus
RGD
PMID:31623833
RGD:329961326
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)
RGD
PMID:16274479
RGD:6893659
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Npy
neuropeptide Y
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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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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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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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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P2ry12
purinergic receptor P2Y12
ISO
RGD
PMID:14662702
RGD:1580188
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Serpine1
serpin family E member 1
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD
PMID:9201602
RGD:8547710
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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