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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Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility
ISO
DNA:SNPs, haplotypes:5' utr, introns, exon:multiple
RGD
PMID:21397927
RGD:8694410
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
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Adipor1
adiponectin receptor 1
susceptibility
ISO
DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human)
RGD
PMID:21397927
RGD:8694410
NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255
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Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:20638364
RGD:13504677
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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Akt2
AKT serine/threonine kinase 2
treatment
ISO
RGD
PMID:20638364
RGD:13504677
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420
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Akt3
AKT serine/threonine kinase 3
treatment
ISO
RGD
PMID:20638364
RGD:13504677
NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020
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Ar
androgen receptor
treatment
IDA
RGD
PMID:18439064
RGD:10043341
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:67,135,317...67,304,467
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Bin1
bridging integrator 1
ISO
RGD
PMID:12532338
RGD:1580047
NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,283,801...24,341,458
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Birc6
baculoviral IAP repeat-containing 6
ameliorates
ISO
mRNA:increased expression:prostate gland (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:26,474,843...26,668,507
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Birc7
baculoviral IAP repeat-containing 7
exacerbates
ISO
mRNALincreased expression:prostate gland (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:188,425,392...188,430,174
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
RGD
PMID:19079609
RGD:2315868
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
treatment
ISO
RGD
PMID:25003983
RGD:18337280
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
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Ccnb1
cyclin B1
severity
ISO
RGD
PMID:10193948
RGD:2315940
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:33,646,252...33,655,225
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Ccne2
cyclin E2
ISO
RGD
PMID:25315431
RGD:13504706
NCBI chr 5:29,082,169...29,094,879
Ensembl chr 5:29,082,703...29,094,882
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Cd9
CD9 molecule
disease_progression
ISO
DNA, mRNA:deletion, point mutation, decreased expression:prostate gland
RGD
PMID:17406028
RGD:2326197
NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444
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Chd4
chromodomain helicase DNA binding protein 4
ISO
mRNA:decreased expression:prostate gland (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
treatment
ISO
RGD
PMID:26379052
RGD:13504774
NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273
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Clu
clusterin
treatment
IEP
RGD
PMID:24118288
RGD:9068419
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
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Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
RGD
PMID:17270658 PMID:11830526
RGD:13504714 , RGD:13504715
NCBI chr 2:177,987,981...177,994,568
Ensembl chr 2:177,987,981...177,993,485
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Prostate adenocarcinoma
ClinVar
PMID:10192393 PMID:25741868 PMID:26619011
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Dnmt1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:prostate gland:
RGD
PMID:17178860
RGD:2289681
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
mRNA:increased expression:prostate gland:
RGD
PMID:17178860
RGD:2289681
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA,protein:increased expression:prostate gland:
RGD
PMID:17178860
RGD:2289681
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313
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Fgf2
fibroblast growth factor 2
disease_progression
ISO
RGD
PMID:14522896
RGD:2290290
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:23576558 PMID:18068632
RGD:13504748 , RGD:2298702
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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Grb2
growth factor receptor bound protein 2
ISO
RGD
PMID:26103942
RGD:11056009
NCBI chr10:101,380,354...101,448,138
Ensembl chr10:101,380,356...101,448,138
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma
ClinVar
PMID:1904555 PMID:3510078 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Prostate adenocarcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 More...
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555
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Igf1r
insulin-like growth factor 1 receptor
treatment disease_progression
ISO IMP
RGD
PMID:26452103 PMID:25862373 PMID:25442907 PMID:8692980
RGD:13504753 , RGD:13504767 , RGD:13504768 , RGD:13504771
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO
RGD
PMID:27196761
RGD:13504772
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911
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Ilk
integrin-linked kinase
disease_progression
ISO
protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004) (human)
RGD
PMID:11448915
RGD:2301734
NCBI chr 1:169,500,716...169,506,972
Ensembl chr 1:169,498,681...169,506,964
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Insr
insulin receptor
treatment
ISO
RGD
PMID:26452103
RGD:13504753
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
RGD
PMID:9748134
RGD:2290484
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285
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Kdr
kinase insert domain receptor
ISO IEP
protein:increased expression:prostate gland
RGD
PMID:17491265 PMID:20808233
RGD:2291925 , RGD:5684541
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
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Map2k1
mitogen activated protein kinase kinase 1
disease_progression
IDA
metastasis; inhibition reduced invasiveness of prostate tumor cells
RGD
PMID:12688676
RGD:2292631
NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:73,578,752...73,650,184
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Mapk1
mitogen activated protein kinase 1
treatment
ISO
RGD
PMID:28492138 PMID:22139534
RGD:13504818 , RGD:13504820
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
human gene in mouse model
RGD
PMID:14522256 PMID:20195545
RGD:7207413 , RGD:7207781
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
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Ncoa2
nuclear receptor coactivator 2
ameliorates
ISO
human cells in mouse model
RGD
PMID:25664849
RGD:153002575
NCBI chr 5:10,618,712...10,852,776
Ensembl chr 5:10,618,722...10,852,776
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Nfkbia
NFKB inhibitor alpha
severity
ISO
protein:increased serine phosphorylation
RGD
PMID:15712212 PMID:15073126
RGD:2298768 , RGD:13506768
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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Pam
peptidylglycine alpha-amidating monooxygenase
ISO
mRNA:increased expression:prostate gland (human)
RGD
PMID:11221851
RGD:6483769
NCBI chr 9:105,445,812...105,719,287
Ensembl chr 9:105,445,929...105,719,285
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Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:prostate
RGD
PMID:7524068
RGD:2292156
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:20,754,208...20,780,322
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Pdgfra
platelet derived growth factor receptor alpha
ISO
protein:increased expression:prostate
RGD
PMID:7524068
RGD:2292156
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516
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Pdpk1
3-phosphoinositide dependent protein kinase-1
treatment
ISO
RGD
PMID:17562488
RGD:13506808
NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,610,063...13,679,181
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Adenocarcinoma of prostate
ClinVar
PMID:15016963 PMID:15254419 PMID:15647370 PMID:15805248 PMID:18676830 PMID:18725974 PMID:19366826 PMID:19903786 PMID:20453058 PMID:20619739 PMID:22162582 PMID:22162589 PMID:25741868 PMID:26619011 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
treatment
ISO
RGD
PMID:18755892
RGD:13217420
NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:108,474,019...108,579,331
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Prkcq
protein kinase C, theta
IEP
mRNA:increased expression:prostate
RGD
PMID:8180127
RGD:1625625
NCBI chr17:72,156,215...72,288,508
Ensembl chr17:72,156,215...72,288,508
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
treatment
ISO
RGD
PMID:15754006
RGD:13506897
NCBI chr 4:150,352,158...150,412,813
Ensembl chr 4:150,352,160...150,412,813
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Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
protein:increased expression:prostate gland
RGD
PMID:15712212 PMID:15073126
RGD:2298768 , RGD:13506768
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
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Stat1
signal transducer and activator of transcription 1
disease_progression
ISO
protein:increased activity:prostate
RGD
PMID:9748134
RGD:2290484
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
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Tert
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:19903903
RGD:11038656
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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Tmprss2
transmembrane serine protease 2
disease_progression
ISO
protein:increased expression, altered localization:prostate gland
RGD
PMID:18338334
RGD:2324904
NCBI chr11:50,403,707...50,443,224
Ensembl chr11:50,398,349...50,443,114
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Adenocarcinoma of prostate ClinVar Annotator: match by term: Prostate adenocarcinoma
ClinVar
PMID:1565143 PMID:1565144 PMID:11370630 PMID:12826609 PMID:19468865 PMID:21305319 PMID:21761402 PMID:22672556 PMID:25584008 PMID:25741868 PMID:26619011 PMID:27616075 PMID:28369373 PMID:28492532 PMID:29070607 PMID:29979965 PMID:30224644 PMID:33332384 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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