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 chr17:93,506,448...93,513,967
Ensembl chr17:93,506,445...93,513,965
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Adcyap1r1
adenylate cyclase activating polypeptide 1 receptor 1
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 6:55,428,486...55,478,440
Ensembl chr 6:55,428,963...55,478,436
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:20079809 PMID:9631447
RGD:5684910 , RGD:8657090
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Cat
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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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 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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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 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Esr2
estrogen receptor 2 (beta)
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 7:4,775,372...4,785,877
Ensembl chr 7:4,775,372...4,785,858
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Il18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Kdr
kinase insert domain protein receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Lta
lymphotoxin A
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 PMID:19066630
RGD:1642002 , RGD:4890977
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mpo
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Muc2
mucin 2
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Ngf
nerve growth factor
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16889433 PMID:20127836 PMID:19996110 PMID:11350415
RGD:7242782 , RGD:7242802 , RGD:7242808
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein, mRNA:increased expression:lumbosacral dorsal root ganglia (rat)
RGD
PMID:18189308
RGD:5508447
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Pdcd1
programmed cell death 1
IMP
RGD
PMID:22432050
RGD:7248677
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Ptger4
prostaglandin E receptor 4 (subtype EP4)
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Sod1
superoxide dismutase 1, soluble
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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Tlr5
toll-like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tnf
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tph2
tryptophan hydroxylase 2
ISO
protein:increased expression:neuron, rostral ventromedial medulla
RGD
PMID:34628661
RGD:597830168
NCBI chr10:114,914,546...115,020,927
Ensembl chr10:114,914,546...115,020,927
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Lcn2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Gsr
glutathione reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Aif1
allograft inflammatory factor 1
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Ccnd1
cyclin D1
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cdk2
cyclin dependent kinase 2
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900
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Cdk6
cyclin dependent kinase 6
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Crp
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf1
colony stimulating factor 1 (macrophage)
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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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 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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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 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl11
chemokine (C-X-C motif) ligand 11
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:18957084 PMID:38842512
RGD:407445927
NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
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Esr2
estrogen receptor 2 (beta)
IMP
RGD
PMID:17522255
RGD:7364800
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Mapk14
mitogen-activated protein kinase 14
treatment
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380
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Mki67
antigen identified by monoclonal antibody Ki 67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Ngf
nerve growth factor
treatment
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 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Nos2
nitric oxide synthase 2, inducible
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nrg1
neuregulin 1
disease_progression
ISO
RGD
PMID:30989724
RGD:405295490
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Tnf
tumor necrosis factor
treatment
IMP
RGD
PMID:16622179
RGD:7245525
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:urinary bladder:
RGD
PMID:38842512
RGD:407445927
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Raf1
v-raf-leukemia viral oncogene 1
ISO
ClinVar Annotator: match by term: Trigonitis
ClinVar
PMID:25741868
NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
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