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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Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:18563302
RGD:2315964
NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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Adcyap1r1
ADCYAP receptor type I
IEP
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 4:85,662,809...85,711,696
Ensembl chr 4:85,662,892...85,711,696
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Bdnf
brain-derived neurotrophic factor
IMP IEP
RGD
PMID:20079809 , PMID:9631447
RGD:5684910 , RGD:8657090
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cat
catalase
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Csf3
colony stimulating factor 3
IEP
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Esr2
estrogen receptor 2
IEP
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 1:72,636,959...72,643,255
Ensembl chr 1:72,635,267...72,643,255
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Il18
interleukin 18
IEP
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
IEP IDA
mRNA, protein:increased expression:urinary bladder
RGD
PMID:11948286 , PMID:23000860
RGD:6907118 , RGD:7175333
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il2
interleukin 2
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Kdr
kinase insert domain receptor
IDA
RGD
PMID:21412823
RGD:5684428
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Lta
lymphotoxin alpha
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mif
macrophage migration inhibitory factor
IEP
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 , PMID:19066630
RGD:1642002 , RGD:4890977
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mpo
myeloperoxidase
IEP
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:214,663,929...214,693,197
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:214,725,482...214,756,653
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Ngf
nerve growth factor
treatment
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16889433 , PMID:20127836 , PMID:19996110 , PMID:11350415
RGD:7242782 , RGD:7242802 , RGD:7242808
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ngfr
nerve growth factor receptor
IEP
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ptger4
prostaglandin E receptor 4
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:20602232
RGD:5135058
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Sod1
superoxide dismutase 1
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tacr1
tachykinin receptor 1
IMP
RGD
PMID:17382773
RGD:2304340
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tlr5
toll-like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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Tnf
tumor necrosis factor
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Lcn2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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Gsr
glutathione-disulfide reductase
IEP
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Csf1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
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Csf2
colony stimulating factor 2
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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Esr2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Ngf
nerve growth factor
treatment
ISO
protein:increased expression:serum, urine
RGD
PMID:23028581 , PMID:18162370 , PMID:20227820
RGD:7242773 , RGD:7242805 , RGD:7242781
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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