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 chr18:904,411...912,172
Ensembl chr18:904,871...912,172
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ADCYAP1R1
ADCYAP receptor type I
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 7:31,052,308...31,111,474
Ensembl chr 7:31,052,308...31,111,474
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BDNF
brain derived neurotrophic factor
ISO
RGD
PMID:20079809 PMID:9631447
RGD:5684910 , RGD:8657090
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CAT
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CSF3
colony stimulating factor 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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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 chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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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 chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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ESR2
estrogen receptor 2
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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IL11
interleukin 11
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463
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IL18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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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 chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL4
interleukin 4
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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KDR
kinase insert domain receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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LTA
lymphotoxin alpha
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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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 chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MPO
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MUC2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:17659847
RGD:7349345
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
IEP
RGD
PMID:17659847
RGD:7349345
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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NGF
nerve growth factor
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16889433 PMID:20127836 PMID:19996110 PMID:11350415
RGD:7242782 , RGD:7242802 , RGD:7242808
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NGFR
nerve growth factor receptor
ISO
protein, mRNA:increased expression:lumbosacral dorsal root ganglia (rat)
RGD
PMID:18189308
RGD:5508447
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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PDCD1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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POMC
proopiomelanocortin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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PTGER4
prostaglandin E receptor 4
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RELA
RELA proto-oncogene, NF-kB subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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SOD1
superoxide dismutase 1
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD2
superoxide dismutase 2
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
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TLR5
toll like receptor 5
severity
IAGP
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TNF
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TPH2
tryptophan hydroxylase 2
ISO
protein:increased expression:neuron, rostral ventromedial medulla
RGD
PMID:34628661
RGD:597830168
NCBI chr12:71,938,845...72,032,440
Ensembl chr12:71,938,845...72,186,618
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LCN2
lipocalin 2
disease_progression
IEP
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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GSR
glutathione-disulfide reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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ADRB2
adrenoceptor beta 2
susceptibility
IAGP
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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AIF1
allograft inflammatory factor 1
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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CCND1
cyclin D1
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CDK2
cyclin dependent kinase 2
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
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CDK6
cyclin dependent kinase 6
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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CRP
C-reactive protein
IEP
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF1
colony stimulating factor 1
treatment
IDA
RGD
PMID:22441309
RGD:7241234
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CXCL1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:38842512
RGD:407445927
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL10
C-X-C motif chemokine ligand 10
EXP ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:18957084 PMID:38842512
RGD:407445927
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
EXP ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:18957084 PMID:38842512
RGD:407445927
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL9
C-X-C motif chemokine ligand 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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ESR2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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MAPK14
mitogen-activated protein kinase 14
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
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MKI67
marker of proliferation Ki-67
IEP
RGD
PMID:21166752
RGD:6483539
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MTOR
mechanistic target of rapamycin kinase
IEP
RGD
PMID:22738385
RGD:7245526
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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NGF
nerve growth factor
treatment
IEP ISO IDA
protein:increased expression:serum, urine mRNA:increased expression:urinary bladder
RGD
PMID:23028581 PMID:38842512 PMID:18162370 PMID:20227820
RGD:7242773 , RGD:407445927 , RGD:7242805 , RGD:7242781
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NRG1
neuregulin 1
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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VCAM1
vascular cell adhesion molecule 1
IEP
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Trigonitis
ClinVar
PMID:25741868
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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