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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Ace
angiotensin I converting enzyme
ISO
associated with Pancreatic Neoplasms
RGD
PMID:19880966
RGD:2325208
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Akt1
AKT serine/threonine kinase 1
ISO
ductal carcinoma in situ;protein:increased phosphorylation:breast
RGD
PMID:16341149
RGD:1643333
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alpl
alkaline phosphatase, biomineralization associated
ISO
associated with Testicular Neoplasms;protein:increased expression:testis
RGD
PMID:10547581
RGD:2315616
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Angpt1
angiopoietin 1
IEP
associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland
RGD
PMID:15459484
RGD:1626167
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Casp1
caspase 1
ISO
associated with Carcinoma, Lobular
RGD
PMID:17375183
RGD:2298754
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Ccnb1
cyclin B1
ISO
associated with Vulvar Neoplasms;protein:increased expression:vulva
RGD
PMID:12610511
RGD:2296040
NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
associated with Bladder Neoplasms;protein:increased expression:urinary bladder
RGD
PMID:18234280
RGD:2296048
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Ctnnb1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Esr1
estrogen receptor 1
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Igf2r
insulin-like growth factor 2 receptor
ISO
associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human)
RGD
PMID:8649861
RGD:2311631
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Igfbp6
insulin-like growth factor binding protein 6
ISO
testicular CIS; mRNA:increased expression:tumor (human)
RGD
PMID:15123780
RGD:2301712
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
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Mki67
marker of proliferation Ki-67
ISO
associated with Pancreatic Neoplasms;protein:increased expression:pancreas
RGD
PMID:20350215
RGD:2317703
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdpn
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pou5f1
POU class 5 homeobox 1
ISO
associated with Testicular Neoplasms;protein:increased expression:semen
RGD
PMID:17996359
RGD:2292428
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Pten
phosphatase and tensin homolog
ISO
associated with Endometrial Neoplasms;protein:decreased expression:endometrium
RGD
PMID:17349568
RGD:2289828
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:urinary bladder protein:increased expression:penis, skin
RGD
PMID:14499677 PMID:14871981
RGD:2300088 , RGD:2300087
NCBI chr 3:14,177,892...14,189,236
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreas
CTD RGD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777
RGD:2317187 , RGD:2317186
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Runx3
RUNX family transcription factor 3
ISO
associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter
RGD
PMID:19763613
RGD:2324958
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Sfn
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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Sfrp1
secreted frizzled-related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor (human)
RGD
PMID:15123780
RGD:2301712
NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286
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Xrcc1
X-ray repair cross complementing 1
IDA
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfp354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068
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Fancf
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
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Igf2r
insulin-like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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Bcl2
BCL2, apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Brca1
BRCA1, DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Cadm1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
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Ccnd1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Ccng1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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Cd274
CD274 molecule
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cdh1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdk4
cyclin-dependent kinase 4
disease_progression
ISO
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
protein:increased expression:uterine cervix DNA:hypermethylation
RGD
PMID:16406113 PMID:16778587 PMID:17910346 PMID:17415114
RGD:2296058 , RGD:2296054 , RGD:2289675 , RGD:2289676
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
protein:increased expression protein:increased expression:uterine cervix
RGD
PMID:17910346 PMID:17415114
RGD:2289675 , RGD:2289676
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Csf1r
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Ctnna1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Dlg1
discs large MAGUK scaffold protein 1
ISO
protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis
RGD
PMID:15221964
RGD:2306812
NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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Faslg
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:14675666 PMID:17709267
RGD:2290021 , RGD:2290004
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il1b
interleukin 1 beta
susceptibility
ISO
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mgp
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mlh1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pdcd1
programmed cell death 1
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:T cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Phb1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
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Pou4f1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rb1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495
RGD:2298759
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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RT1-Db1
RT1 class II, locus Db1
ISO
associated with Papillomavirus Infections
RGD
PMID:18351579 PMID:15458897 PMID:10073700
RGD:2306230 , RGD:2306232 , RGD:2314703
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Skp2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Srsf1
serine and arginine rich splicing factor 1
disease_progression
ISO
associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)
RGD
PMID:19718710
RGD:11039410
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased serine phosphorylation:cervix epithelium protein:increased expression:nucleus
RGD
PMID:16005944 PMID:17110342
RGD:2298536 , RGD:2291916
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Terc
telomerase RNA component
disease_progression
ISO
DNA:amplification:uterine cervix, epithelial cell
RGD
PMID:15793301
RGD:2291968
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Thrb
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Tlr9
toll-like receptor 9
disease_progression
ISO
RGD
PMID:17440926
RGD:2301099
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Top2a
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tp73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xiap
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
protein:increased expression:myoepithelial cells:
RGD
PMID:16735089
RGD:10053629
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Ang
angiogenin
ISO
protein:increased expression:breast
RGD
PMID:15776477
RGD:2325702
NCBI chr15:24,312,711...24,323,361
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Anxa1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Ar
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Areg
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Bcl2
BCL2, apoptosis regulator
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bnip3
BCL2 interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Brca1
BRCA1, DNA repair associated
treatment
IEP
RGD
PMID:25861310
RGD:127284854
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
onset treatment
ISO IEP
DNA:missense mutation: :5972C>T
RGD
PMID:16280055 PMID:25861310
RGD:2289048 , RGD:127284854
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Car9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Casp6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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Ccnd1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:15788662 PMID:17119686
RGD:2289981 , RGD:2289931
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Flt1
Fms related receptor tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20526721 PMID:16080559
RGD:2306227
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hoxb13
homeo box B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
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Klk10
kallikrein related-peptidase 10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chr 1:94,234,536...94,239,369
Ensembl chr 1:94,235,096...94,239,376
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Notch4
notch receptor 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pak2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816
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Pgr
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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Prkca
protein kinase C, alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chr 3:14,177,892...14,189,236
G
Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:18199541 PMID:18237383
RGD:2300203 , RGD:2300199
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Rb1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
G
Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
protein:increased activity:breast
RGD
PMID:17060931
RGD:2315078
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Stat5a
signal transducer and activator of transcription 5A
ISO
protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism protein:decreased expression:breast
CTD RGD
PMID:15609129 PMID:15609129 PMID:16133357
RGD:2291932 , RGD:2291930
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tff1
trefoil factor 1
ISO
RGD
PMID:15375487
RGD:2292005
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Top2a
DNA topoisomerase II alpha
severity
ISO
protein:increased expression:breast
RGD
PMID:11070118
RGD:2315133
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp53
tumor protein p53
ISO
protein:increased expression:breast ClinVar Annotator: match by term: Ductal breast carcinoma in situ
ClinVar RGD
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9569050 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24641375 PMID:24651012 PMID:24810334 PMID:25157968 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31775759 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 PMID:17119686 More...
RGD:2289931
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tymp
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Nuf2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
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Amacr
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Ang
angiogenin
ISO
RGD
PMID:19276260
RGD:2325697
NCBI chr15:24,312,711...24,323,361
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Areg
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Atm
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
protein:increased expression:prostate gland
RGD
PMID:15754349 PMID:16707419
RGD:2293883 , RGD:2293877
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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Aurkb
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Btg2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
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Carm1
coactivator-associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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Ccnd1
cyclin D1
ISO
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:20932324 PMID:18691549
RGD:2299085
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Creb3l4
cAMP responsive element binding protein 3-like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Esr1
estrogen receptor 1
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fgf6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Fgf8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:18068632
RGD:2298702
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:14695195
RGD:2301192
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fzd4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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Gstp1
glutathione S-transferase pi 1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22581815 PMID:24312188
RGD:10401940
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Igf1
insulin-like growth factor 1
IEP
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19117991
RGD:2314913
NCBI chr 4:178,185,418...178,218,484
G
Lef1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Lrp1
LDL receptor related protein 1
IEP
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Map2k4
mitogen activated protein kinase kinase 4
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Map2k6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Map2k7
mitogen activated protein kinase kinase 7
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16574721
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:10861747
RGD:10059615
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Phb1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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Prss8
serine protease 8
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19081794 PMID:22581815 PMID:18268330
RGD:2292497
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:prostate gland
RGD
PMID:16278667 PMID:15570007
RGD:2298767 , RGD:2298769
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rxra
retinoid X receptor alpha
IEP
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
Slc30a4
solute carrier family 30 member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
G
Smad4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
G
St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
G
Stk11
serine/threonine kinase 11
ISO
RGD
PMID:18381428
RGD:2291943
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
G
Timp4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
G
Top2b
DNA topoisomerase II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085
G
Tp63
tumor protein p63
ISO
protein:decreased expression:prostate gland CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22581815 PMID:17189982 PMID:17982114
RGD:2315434 , RGD:2315433
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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