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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Apln
apelin
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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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793)
RGD
PMID:34262949
RGD:401901074
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Edn1
endothelin 1
treatment
ISO
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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Hrh2
histamine receptor H 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631
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Igf1
insulin-like growth factor 1
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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Igf1r
insulin-like growth factor 1 receptor
IEP
mRNA:increased expression:myocyte:
RGD
PMID:8102103
RGD:10046053
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Itgav
integrin subunit alpha V
IDA
RGD
PMID:11922905
RGD:1582454
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Lmcd1
LIM and cysteine-rich domains 1
ISO
protein:increased expression:coronary artery
RGD
PMID:32160773
RGD:243065232
NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046
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Mdk
midkine
IDA
RGD
PMID:10683378
RGD:1299187
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Myh7
myosin heavy chain 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721106
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
DNA:missense mutations:cds:p.L125V, p.S563N (human)
RGD
PMID:10571959
RGD:1598382
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Phactr1
phosphatase and actin regulator 1
susceptibility
ISO
DNA:SNP::g.13011943A>G (rs9349379) (human)
RGD
PMID:22745674
RGD:401900726
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16782078
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Tnfrsf11b
TNF receptor superfamily member 11B
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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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9236417
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12138120
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA:decreased expression:blood (human)
RGD
PMID:35144391
RGD:329961301
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
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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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Cdh13
cadherin 13
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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Cxcl10
C-X-C motif chemokine ligand 10
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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Cxcr3
C-X-C motif chemokine receptor 3
ISO
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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F2r
coagulation factor II (thrombin) receptor
ISO
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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Hmox1
heme oxygenase 1
susceptibility
ISO
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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Itgb2
integrin subunit beta 2
ISO
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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Lox
lysyl oxidase
IDA
RGD
PMID:15218472
RGD:1581881
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Mapk1
mitogen activated protein kinase 1
IDA
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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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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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8662692
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp7
matrix metallopeptidase 7
treatment
IEP
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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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16489563
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
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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Npy5r
neuropeptide Y receptor Y5
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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Oaz1
ornithine decarboxylase antizyme 1
susceptibility
ISO
DNA:SNP:intron:c.2222A>G (rs2074458) (human)
RGD
PMID:17761941
RGD:401851037
NCBI chr 7:8,883,855...8,886,315
Ensembl chr 7:8,883,851...8,886,310
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Spp1
secreted phosphoprotein 1
ISO
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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Tnf
tumor necrosis factor
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
ISO
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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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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