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 chr18:60,259,479...60,267,302
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ADCYAP1R1
ADCYAP receptor type I
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr21:27,274,039...27,333,316
Ensembl chr21:27,278,788...27,333,220
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BDNF
brain derived neurotrophic factor
ISO
RGD
PMID:9631447 PMID:20079809
RGD:5684910 RGD:8657090
NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
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CAT
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
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CSF3
colony stimulating factor 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
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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 chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529
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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 chr15:136,757...153,316
Ensembl chr15:150,718...151,785
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ESR2
estrogen receptor 2
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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IL11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 6:47,967,245...47,972,557
Ensembl chr 6:47,967,680...47,971,316
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IL18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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IL4
interleukin 4
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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KDR
kinase insert domain receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
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LTA
lymphotoxin alpha
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
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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 chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
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MPO
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:893,554...926,854
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:981,515...1,018,242
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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 chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833
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NGFR
nerve growth factor receptor
ISO
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189
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PDCD1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
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PTGER4
prostaglandin E receptor 4
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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SOD1
superoxide dismutase 1
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 2:60,461,219...60,472,999
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SOD2
superoxide dismutase 2
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596
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TLR5
toll like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr25:6,418,895...6,440,433
Ensembl chr25:6,437,638...6,440,211
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TNF
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
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TPH2
tryptophan hydroxylase 2
ISO
protein:increased expression:neuron, rostral ventromedial medulla
RGD
PMID:34628661
RGD:597830168
NCBI chr11:67,568,744...67,664,911
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LCN2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870
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GSR
glutathione-disulfide reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr 8:28,778,713...28,851,907
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ADRB2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
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AIF1
allograft inflammatory factor 1
treatment
ISO
RGD
PMID:30989724
RGD:405295490
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CCND1
cyclin D1
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CDK2
cyclin dependent kinase 2
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907
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CDK6
cyclin dependent kinase 6
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808
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CRP
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
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CSF1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr20:23,615,107...23,635,399
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140
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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 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900 Ensembl chr 7:22,569,355...22,569,900
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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 chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130
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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 chr 7:24,540,401...24,543,456
Ensembl chr 7:24,541,767...24,542,832
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CXCL9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr10:97,099,090...98,281,697
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ESR2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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MAPK14
mitogen-activated protein kinase 14
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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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 chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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NRG1
neuregulin 1
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr17:28,377,959...28,394,508
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Trigonitis
ClinVar
PMID:25741868
NCBI chr22:48,560,270...48,643,537
Ensembl chr22:48,561,161...48,618,020
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