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_004936672:3,461,387...3,468,053
Ensembl chrNW_004936672:3,460,383...3,468,255
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Adcyap1r1
ADCYAP receptor type I
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chrNW_004936478:7,278,081...7,322,970
Ensembl chrNW_004936478:7,278,147...7,318,458
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:9631447 PMID:20079809
RGD:5684910 RGD:8657090
NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014
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Cat
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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Csf3
colony stimulating factor 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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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_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062
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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_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627
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Esr2
estrogen receptor 2
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chrNW_004936886:617,531...620,661
Ensembl chrNW_004936886:618,419...621,772
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Il18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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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_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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Il2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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Lta
lymphotoxin alpha
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022
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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_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
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Mpo
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chrNW_004936816:129,926...159,396
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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_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364
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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_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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Ptger4
prostaglandin E receptor 4
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chrNW_004936481:3,821,564...3,828,086
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Sod1
superoxide dismutase 1
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
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Sod2
superoxide dismutase 2
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chrNW_004936556:1,266,621...1,421,271
Ensembl chrNW_004936556:1,266,613...1,421,275
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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_004936526:383,490...387,007
Ensembl chrNW_004936526:383,418...401,552
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Tnf
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Tph2
tryptophan hydroxylase 2
ISO
protein:increased expression:neuron, rostral ventromedial medulla
RGD
PMID:34628661
RGD:597830168
NCBI chrNW_004936568:974,575...1,065,800
Ensembl chrNW_004936568:974,767...1,065,804
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Lcn2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
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Aif1
allograft inflammatory factor 1
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004936727:1,907,493...1,909,350
Ensembl chrNW_004936727:1,907,505...1,909,338
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Ccnd1
cyclin D1
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
Ensembl chrNW_004936599:973,838...983,316
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Cdk2
cyclin dependent kinase 2
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877
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Cdk6
cyclin dependent kinase 6
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516
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Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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Csf1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864
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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_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
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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_004936676:72,383...73,697
Ensembl chrNW_004936676:71,667...73,738
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035
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Esr2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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Mapk14
mitogen-activated protein kinase 14
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chrNW_004936486:15,561,327...15,587,109
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
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Ngf
nerve growth factor
treatment
ISO
protein:increased expression:serum, urine mRNA:increased expression:urinary bladder
RGD
PMID:18162370 PMID:20227820 PMID:23028581 PMID:38842512
RGD:407445927 RGD:7242773 RGD:7242781 RGD:7242805
NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Nrg1
neuregulin 1
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Trigonitis
ClinVar
PMID:25741868
NCBI chrNW_004936602:1,089,979...1,114,376
Ensembl chrNW_004936602:1,051,205...1,117,096
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