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
ISO
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:18563302
RGD:2315964
NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803
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Adcyap1r1
ADCYAP receptor type I
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chrNW_004955410:32,176,683...32,229,187
Ensembl chrNW_004955410:32,176,536...32,229,431
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:9631447 PMID:20079809
RGD:5684910 RGD:8657090
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
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Cat
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Csf3
colony stimulating factor 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
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Esr2
estrogen receptor 2
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chrNW_004955567:868,272...883,563
Ensembl chrNW_004955567:871,489...883,563
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Il18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:11948286 PMID:23000860
RGD:6907118 RGD:7175333
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il4
interleukin 4
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004955408:4,058,052...4,065,999
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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Lta
lymphotoxin alpha
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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Mif
macrophage migration inhibitory factor
ISO
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 PMID:19066630
RGD:1642002 RGD:4890977
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
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Mpo
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chrNW_004955476:11,061,405...11,084,294
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Ngf
nerve growth factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11350415 PMID:16889433 PMID:19996110 PMID:20127836
RGD:7242782 RGD:7242802 RGD:7242808
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
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Ngfr
nerve growth factor receptor
ISO
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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Ptger4
prostaglandin E receptor 4
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Sod1
superoxide dismutase 1
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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Sod2
superoxide dismutase 2
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chrNW_004955424:10,614,340...10,761,872
Ensembl chrNW_004955424:10,614,340...10,761,872
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Tlr5
toll like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Tnf
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tph2
tryptophan hydroxylase 2
ISO
protein:increased expression:neuron, rostral ventromedial medulla
RGD
PMID:34628661
RGD:597830168
NCBI chrNW_004955405:11,877,474...11,981,035
Ensembl chrNW_004955405:11,886,206...11,982,550
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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Aif1
allograft inflammatory factor 1
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004955437:157,509...158,919
Ensembl chrNW_004955437:157,509...158,919
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Ccnd1
cyclin D1
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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Cdk2
cyclin dependent kinase 2
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004955458:3,555,603...3,561,063
Ensembl chrNW_004955458:3,555,603...3,562,120
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Cdk6
cyclin dependent kinase 6
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004955432:9,521,794...9,727,772
Ensembl chrNW_004955432:9,521,794...9,726,417
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Csf1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:18957084 PMID:38842512
RGD:407445927
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:18957084 PMID:38842512
RGD:407445927
NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
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Esr2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
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Mapk14
mitogen-activated protein kinase 14
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chrNW_004955477:5,847,288...5,875,970
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
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Ngf
nerve growth factor
treatment
ISO
mRNA:increased expression:urinary bladder protein:increased expression:serum, urine
RGD
PMID:18162370 PMID:20227820 PMID:23028581 PMID:38842512
RGD:407445927 RGD:7242773 RGD:7242781 RGD:7242805
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nrg1
neuregulin 1
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004955437:9,527,445...9,541,908
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Trigonitis
ClinVar
PMID:25741868
NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723
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