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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
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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 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
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ANGPT1
angiopoietin 1
ISO
associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland
RGD
PMID:15459484
RGD:1626167
NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
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CASP1
caspase 1
ISO
associated with Carcinoma, Lobular
RGD
PMID:17375183
RGD:2298754
NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149 Ensembl chr11:103,448,497...103,458,149
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CCNB1
cyclin B1
ISO
associated with Vulvar Neoplasms;protein:increased expression:vulva
RGD
PMID:12610511
RGD:2296040
NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332
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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 9:21,803,862...21,831,322
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CTNNB1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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ESR1
estrogen receptor 1
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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ESR2
estrogen receptor 2
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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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 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
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IGFBP6
insulin like growth factor binding protein 6
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132
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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 chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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PDPN
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584
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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 chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426
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PTEN
phosphatase and tensin homolog
ISO
associated with Endometrial Neoplasms;protein:decreased expression:endometrium
RGD
PMID:17349568
RGD:2289828
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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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:2300087 RGD:2300088
NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020
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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:2317186 RGD:2317187
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RB1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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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 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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SFN
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SFRP1
secreted frizzled related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chr 8:40,507,027...40,555,053
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XRCC1
X-ray repair cross complementing 1
ISO
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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ZNF354A
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr 5:173,869,993...173,931,852
Ensembl chr 5:181,126,400...181,141,632
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FANCF
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
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IGF2R
insulin like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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CADM1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
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CCND1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr11:64,737,006...64,750,353
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CCNE1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CCNG1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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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 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CD46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
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CDH1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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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 chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
protein:increased expression DNA:hypermethylation protein:increased expression:uterine cervix
RGD
PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346
RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CSF1R
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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CTNNA1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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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 chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987
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FASLG
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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HDAC2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chr 7:46,564,234...46,573,145
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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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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MGP
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523
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MLH1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MSH2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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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 chr12:130,849,353...130,858,776
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PHB1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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POU4F1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr13:59,821,614...59,829,671
G
PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RB1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SKP2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
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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 chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
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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:2291916 RGD:2298536
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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TERT
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
Ensembl chr 5:1,300,960...1,338,872
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THRB
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960
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TOP2A
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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TP73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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XIAP
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
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AKR1C3
aldo-keto reductase family 1 member C3
ISO
protein:increased expression:myoepithelial cells:
RGD
PMID:16735089
RGD:10053629
NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812
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ANG
angiogenin
ISO
protein:increased expression:breast
RGD
PMID:15776477
RGD:2325702
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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ANXA1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
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AR
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
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AREG
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BNIP3
BCL2 interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
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BRCA1
BRCA1 DNA repair associated
treatment
ISO
RGD
PMID:25861310
RGD:127284854
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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BRCA2
BRCA2 DNA repair associated
onset treatment
ISO
DNA:missense mutation: :5972C>T
RGD
PMID:16280055 PMID:25861310
RGD:127284854 RGD:2289048
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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CA9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CASP6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836
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CCND1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
NCBI chr11:64,737,006...64,750,353
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CCND2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:15788662 PMID:17119686
RGD:2289931 RGD:2289981
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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FLT1
fms related receptor tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chr13:9,584,850...9,779,542
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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 chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism protein:altered localization:nucleus
CTD RGD
PMID:16080559 PMID:20526721
RGD:2306227
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HOXB13
homeobox B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
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KLK10
kallikrein related peptidase 10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chr19:47,980,177...47,987,617
Ensembl chr19:56,869,530...56,876,649
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LDHB
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chr12:64,640,994...64,663,418
Ensembl chr12:67,245,130...67,267,487
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LOC100988550
signal transducer and activator of transcription 5A
ISO
protein:decreased expression:breast protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15609129 PMID:16133357
RGD:2291930 RGD:2291932
NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
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MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NOTCH4
notch receptor 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
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PAK2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507
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PGR
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr11:95,997,677...96,098,866
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PRKCA
protein kinase C alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:18199541 PMID:18237383
RGD:2300199 RGD:2300203
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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PTK2
protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
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RB1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SLC2A1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr16:10,196,432...10,198,205
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SOCS2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
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SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
protein:increased activity:breast
RGD
PMID:17060931
RGD:2315078
NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
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ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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TERT
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
Ensembl chr 5:1,300,960...1,338,872
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TFF1
trefoil factor 1
ISO
RGD
PMID:15375487
RGD:2292005
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
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TOP2A
DNA topoisomerase II alpha
severity
ISO
protein:increased expression:breast
RGD
PMID:11070118
RGD:2315133
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Ductal carcinoma in situ
ClinVar
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: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:28369373 PMID:28492532 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:33372952 PMID:33471991 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TYMP
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chr22:30,772,088...30,776,618
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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NUF2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364
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AMACR
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
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ANG
angiogenin
ISO
RGD
PMID:19276260
RGD:2325697
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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AR
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
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AREG
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
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ATM
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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AURKA
aurora kinase A
ISO
protein:increased expression:prostate gland
RGD
PMID:15754349 PMID:16707419
RGD:2293877 RGD:2293883
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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AURKB
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129
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BTG2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404
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CARM1
coactivator associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
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CCND1
cyclin D1
ISO
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr11:64,737,006...64,750,353
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CCNE1
cyclin E1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:18691549 PMID:20932324
RGD:2299085
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CREB3L4
cAMP responsive element binding protein 3 like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chr 1:129,324,479...129,331,204
Ensembl chr 1:132,953,062...132,959,696
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CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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DNMT1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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ESR2
estrogen receptor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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FGF6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chr12:4,543,776...4,555,352
Ensembl chr12:4,466,975...4,478,459
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FGF8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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FGFR1
fibroblast growth factor receptor 1
ISO
RGD
PMID:18068632
RGD:2298702
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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FGFR2
fibroblast growth factor receptor 2
ISO
RGD
PMID:14695195
RGD:2301192
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chr13:9,584,850...9,779,542
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FZD4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065
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GSTP1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22581815 PMID:24312188
RGD:10401940
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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KRAS
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19117991
RGD:2314913
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LEF1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
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LOC100986475
metallothionein-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16574721
NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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LRP1
LDL receptor related protein 1
ISO
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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MAP2K4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
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MAP2K6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454
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MAP2K7
mitogen-activated protein kinase kinase 7
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:10861747
RGD:10059615
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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PHB1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr 6:36,730,669...36,735,954
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PRSS8
serine protease 8
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chr16:23,833,127...23,837,466
Ensembl chr16:31,500,225...31,504,623
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18268330 PMID:19081794 PMID:22581815
RGD:2292497
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:prostate gland
RGD
PMID:15570007 PMID:16278667
RGD:2298767 RGD:2298769
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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RXRA
retinoid X receptor alpha
ISO
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
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SLC30A4
solute carrier family 30 member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chr15:24,425,816...24,469,085
Ensembl chr15:42,758,455...42,798,815
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SMAD4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
G
STK11
serine/threonine kinase 11
ISO
RGD
PMID:18381428
RGD:2291943
Ensembl chr19:1,188,537...1,210,677
G
TIMP4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
G
TOP2B
DNA topoisomerase II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr 3:25,499,239...25,566,029
Ensembl chr 3:25,828,879...25,896,912
G
TP63
tumor protein p63
ISO
protein:decreased expression:prostate gland CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17189982 PMID:17982114 PMID:22581815
RGD:2315433 RGD:2315434
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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