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.
G
Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:18563302
RGD:2315964
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
G
Adcyap1r1
ADCYAP receptor type I
IEP
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700
G
Bdnf
brain-derived neurotrophic factor
IMP IEP
RGD
PMID:20079809 PMID:9631447
RGD:5684910 , RGD:8657090
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Cat
catalase
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Csf3
colony stimulating factor 3
IEP
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Esr2
estrogen receptor 2
IEP
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
G
Il18
interleukin 18
IEP
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
IEP IDA
mRNA, protein:increased expression:urinary bladder
RGD
PMID:11948286 PMID:23000860
RGD:6907118 , RGD:7175333
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il2
interleukin 2
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il4
interleukin 4
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Kdr
kinase insert domain receptor
IDA
RGD
PMID:21412823
RGD:5684428
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Lta
lymphotoxin alpha
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mif
macrophage migration inhibitory factor
IEP
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 PMID:19066630
RGD:1642002 , RGD:4890977
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mpo
myeloperoxidase
IEP
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Ngf
nerve growth factor
treatment
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16889433 PMID:20127836 PMID:19996110 PMID:11350415
RGD:7242782 , RGD:7242802 , RGD:7242808
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Ngfr
nerve growth factor receptor
IEP
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
G
Ptger4
prostaglandin E receptor 4
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:20602232
RGD:5135058
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Sod1
superoxide dismutase 1
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Sod2
superoxide dismutase 2
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tacr1
tachykinin receptor 1
IMP
RGD
PMID:17382773
RGD:2304340
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Tlr5
toll-like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tnf
tumor necrosis factor
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Lcn2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Gsr
glutathione-disulfide reductase
IEP
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Aif1
allograft inflammatory factor 1
treatment
IEP
RGD
PMID:30989724
RGD:405295490
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
G
Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Csf1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
G
Csf2
colony stimulating factor 2
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
IEP
RGD
PMID:30989724
RGD:405295490
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
G
Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
IEP
RGD
PMID:30989724
RGD:405295490
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
G
Esr2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Mapk14
mitogen activated protein kinase 14
treatment
IEP
RGD
PMID:30989724
RGD:405295490
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
G
Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Ngf
nerve growth factor
treatment
ISO
protein:increased expression:serum, urine
RGD
PMID:23028581 PMID:18162370 PMID:20227820
RGD:7242773 , RGD:7242805 , RGD:7242781
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nrg1
neuregulin 1
disease_progression
IEP
RGD
PMID:30989724
RGD:405295490
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all