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
Ace
angiotensin I converting enzyme
IMP
associated with Pancreatic Neoplasms
RGD
PMID:19880966
RGD:2325208
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Akt1
thymoma viral proto-oncogene 1
ISO
ductal carcinoma in situ;protein:increased phosphorylation:breast
RGD
PMID:16341149
RGD:1643333
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Alpl
alkaline phosphatase, liver/bone/kidney
ISO
associated with Testicular Neoplasms;protein:increased expression:testis
RGD
PMID:10547581
RGD:2315616
NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695
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Angpt1
angiopoietin 1
ISO
associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland
RGD
PMID:15459484
RGD:1626167
NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
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Casp1
caspase 1
ISO
associated with Carcinoma, Lobular
RGD
PMID:17375183
RGD:2298754
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Ccnb1
cyclin B1
ISO
associated with Vulvar Neoplasms;protein:increased expression:vulva
RGD
PMID:12610511
RGD:2296040
NCBI chr13:100,915,247...100,922,994
Ensembl chr13:100,915,158...100,923,078
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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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Ctnnb1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Esr1
estrogen receptor 1 (alpha)
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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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 chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551
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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 chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946
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Mki67
antigen identified by monoclonal antibody Ki 67
ISO
associated with Pancreatic Neoplasms;protein:increased expression:pancreas
RGD
PMID:20350215
RGD:2317703
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdpn
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134
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Pou5f1
POU domain, class 5, transcription factor 1
ISO
associated with Testicular Neoplasms;protein:increased expression:semen
RGD
PMID:17996359
RGD:2292428
NCBI chr17:35,816,929...35,821,674
Ensembl chr17:35,816,915...35,821,669
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Pten
phosphatase and tensin homolog
ISO
associated with Endometrial Neoplasms;protein:decreased expression:endometrium
RGD
PMID:17349568
RGD:2289828
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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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 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO IMP
protein:increased expression:pancreas CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10582676 PMID:10873095 PMID:18617777 PMID:17652141
RGD:2317186 , RGD:2317187
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Runx3
runt related transcription factor 3
ISO
associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter
RGD
PMID:19763613
RGD:2324958
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Sfn
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479
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Sfrp1
secreted frizzled-related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor (human)
RGD
PMID:15123780
RGD:2301712
NCBI chr 8:23,901,401...23,939,648
Ensembl chr 8:23,901,518...23,939,648
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
ISO
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Zfp354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr11:50,950,052...50,963,626
Ensembl chr11:50,950,084...50,963,626
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Fancf
Fanconi anemia, complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015
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Igf2r
insulin-like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551
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Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943
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Bcl2
B cell leukemia/lymphoma 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Brca1
breast cancer 1, early onset
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Cadm1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr 9:47,441,468...47,773,578
Ensembl chr 9:47,441,471...47,769,413
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Ccnd1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
G
Ccne1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
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Ccng1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138
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Cd274
CD274 antigen
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd46
CD46 antigen, complement regulatory protein
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
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Cdh1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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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 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
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Csf1r
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
G
Ctnna1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832
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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 chr16:31,482,261...31,692,174
Ensembl chr16:31,482,261...31,693,947
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Fasl
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
associated with Papillomavirus Infections
RGD
PMID:15458897 PMID:18351579 PMID:10073700
RGD:2306232 , RGD:2306230 , RGD:2314703
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Hdac2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:7,796,355...7,814,284
Ensembl chr X:7,796,359...7,814,128
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:14675666 PMID:17709267
RGD:2290021 , RGD:2290004
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Mgp
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821
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Mir21a
microRNA 21a
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mlh1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Msh2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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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 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Phb1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599
G
Pou4f1
POU domain, class 4, transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
G
Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
G
Rb1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
disease_progression
ISO
protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495
RGD:2298759
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Skp2
S-phase kinase-associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
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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 chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581
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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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Terc
telomerase RNA component
disease_progression
ISO
DNA:amplification:uterine cervix, epithelial cell
RGD
PMID:15793301
RGD:2291968
NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149
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Tert
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Thrb
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435
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Tlr9
toll-like receptor 9
disease_progression
ISO
RGD
PMID:17440926
RGD:2301099
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Top2a
topoisomerase (DNA) II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015
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Trp63
transformation related protein 63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
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Trp73
transformation related protein 73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Xiap
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:41,148,483...41,198,541
Ensembl chr X:41,148,556...41,198,533
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Akr1c18
aldo-keto reductase family 1, member C18
ISO
protein:increased expression:myoepithelial cells:
RGD
PMID:16735089
RGD:10053629
NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
protein:increased expression:breast
RGD
PMID:15776477
RGD:2325702
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Anxa1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Ar
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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Areg
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
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Bcl2
B cell leukemia/lymphoma 2
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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Brca1
breast cancer 1, early onset
treatment
ISO
RGD
PMID:25861310
RGD:127284854
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
G
Brca2
breast cancer 2, early onset
onset treatment
ISO
DNA:missense mutation: :5972C>T
RGD
PMID:16280055 PMID:25861310
RGD:2289048 , RGD:127284854
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Car9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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Casp6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chr 3:129,695,064...129,707,761
Ensembl chr 3:129,695,074...129,707,752
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Ccnd1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccnd2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156
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Cdkn1a
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
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Flt1
FMS-like tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Fosl1
fos-like antigen 1
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20526721 PMID:16080559
RGD:2306227
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Hoxb13
homeobox B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273
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Klk10
kallikrein related-peptidase 10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chr 7:43,430,478...43,434,834
Ensembl chr 7:43,430,459...43,434,834
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chr 6:142,435,975...142,453,683
Ensembl chr 6:142,435,975...142,453,683
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Notch4
notch 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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Pak2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160
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Pgr
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612
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Prkca
protein kinase C, alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:18199541 PMID:18237383
RGD:2300203 , RGD:2300199
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptk2
PTK2 protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
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Rb1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Socs2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873
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Src
Rous sarcoma oncogene
severity
ISO
protein:increased activity:breast
RGD
PMID:17060931
RGD:2315078
NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782
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St14
suppression of tumorigenicity 14 (colon carcinoma)
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149
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Stat5a
signal transducer and activator of transcription 5A
ISO
protein:decreased expression:breast CTD Direct Evidence: marker/mechanism protein:altered localization:nucleus
CTD RGD
PMID:15609129 PMID:16133357 PMID:15609129
RGD:2291930 , RGD:2291932
NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tff1
trefoil factor 1
ISO
RGD
PMID:15375487
RGD:2292005
NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251
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Timp2
tissue inhibitor of metalloproteinase 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566
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Timp4
tissue inhibitor of metalloproteinase 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166
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Top2a
topoisomerase (DNA) II alpha
severity
ISO
protein:increased expression:breast
RGD
PMID:11070118
RGD:2315133
NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015
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Trp53
transformation related protein 53
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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tymp
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Nuf2
NUF2, NDC80 kinetochore complex component
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033
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Amacr
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chr15:10,981,875...10,995,693
Ensembl chr15:10,981,842...10,996,712
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Ang
angiogenin, ribonuclease, RNase A family, 5
IMP
RGD
PMID:19276260
RGD:2325697
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Apex1
apurinic/apyrimidinic endonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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Areg
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
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Atm
ataxia telangiectasia mutated
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Aurka
aurora kinase A
ISO
protein:increased expression:prostate gland
RGD
PMID:16707419 PMID:15754349
RGD:2293877 , RGD:2293883
NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455
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Aurkb
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490
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Btg2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858
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Carm1
coactivator-associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919
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Ccnd1
cyclin D1
IEP
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccne1
cyclin E1
IEP
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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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 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Creb3l4
cAMP responsive element binding protein 3-like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Esr1
estrogen receptor 1 (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fgf6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chr 6:126,992,505...127,001,681
Ensembl chr 6:126,992,549...127,005,150
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Fgf8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
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Fgfr1
fibroblast growth factor receptor 1
IDA
RGD
PMID:18068632
RGD:2298702
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fgfr2
fibroblast growth factor receptor 2
IMP
RGD
PMID:14695195
RGD:2301192
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
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Flt1
FMS-like tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Fzd4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342
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Gstp1
glutathione S-transferase, pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22581815 PMID:24312188
RGD:10401940
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Kras
Kirsten rat sarcoma viral oncogene homolog
IAGP
RGD
PMID:19117991
RGD:2314913
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lef1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
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Lrp1
low density lipoprotein receptor-related protein 1
ISO
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
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Map2k4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
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Map2k6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr11:110,289,928...110,416,348
Ensembl chr11:110,289,948...110,416,348
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Map2k7
mitogen-activated protein kinase kinase 7
disease_progression
ISO
RGD
PMID:17577251
RGD:2293334
NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 Ensembl chr 8:4,288,740...4,297,897
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Mt2
metallothionein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16574721
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Myc
myelocytomatosis oncogene
IMP
RGD
PMID:10861747
RGD:10059615
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Phb1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599
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Pim1
proviral integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
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Prss8
serine protease 8 (prostasin)
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chr 7:127,524,889...127,529,266
Ensembl chr 7:127,524,888...127,529,276
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Pten
phosphatase and tensin homolog
IAGP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19081794 PMID:22581815 PMID:18268330
RGD:2292497
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
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)
IMP ISO
protein:increased expression:prostate gland
RGD
PMID:15570007 PMID:16278667
RGD:2298769 , RGD:2298767
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Rxra
retinoid X receptor alpha
ISO
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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Slc30a4
solute carrier family 30 (zinc transporter), member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chr 2:122,523,153...122,544,583
Ensembl chr 2:122,523,153...122,544,583
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Smad4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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St14
suppression of tumorigenicity 14 (colon carcinoma)
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149
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Stk11
serine/threonine kinase 11
IAGP
RGD
PMID:18381428
RGD:2291943
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Timp4
tissue inhibitor of metalloproteinase 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166
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Top2b
topoisomerase (DNA) II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr14:6,038,976...6,104,585
Ensembl chr14:6,034,301...6,104,584
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Trp63
transformation related protein 63
ISO EXP IEP
protein:decreased expression:prostate gland CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22581815 PMID:17189982 PMID:17982114
RGD:2315434 , RGD:2315433
NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
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