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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ACHE
acetylcholinesterase (Yt blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29644616
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18190825 PMID:36115647
RGD:2291891
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:urinary bladder
RGD
PMID:14532840
RGD:2315608
NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
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AMACR
alpha-methylacyl-CoA racemase
severity
ISO
RGD
PMID:18648853
RGD:2315629
NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
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AMFR
autocrine motility factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9241080
NCBI chr16:36,647,792...36,711,782
Ensembl chr16:55,780,633...55,843,744
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ANG
angiogenin
ISO
protein:increased expression:urine protein:increased expression:plasma
RGD
PMID:15329320 PMID:15912517
RGD:2325700 RGD:2325704
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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ANKFY1
ankyrin repeat and FYVE domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr17:4,217,880...4,316,017
Ensembl chr17:4,209,250...4,307,328
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ANPEP
alanyl aminopeptidase, membrane
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
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ANXA2R
annexin A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:67,335,346...67,338,556
Ensembl chr 5:72,383,027...72,383,608
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
RGD
PMID:19041121
RGD:2315660
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23852168 PMID:27643540
NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265
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AQP3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
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AREG
amphiregulin
disease_progression
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11133810 PMID:11507076
RGD:2292661 RGD:2292662
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
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ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:25741868 PMID:32888375 PMID:34942405
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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AS3MT
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094
NCBI chr10:99,470,026...99,502,829
Ensembl chr10:102,933,671...102,964,692
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ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 8:126,688,608...127,080,662
Ensembl chr 8:129,418,796...130,021,261
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ASXL2
ASXL transcriptional regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr2A:25,730,155...25,880,089
Ensembl chr2A:25,832,527...25,973,659
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:8755918 PMID:9043869 PMID:9450874 PMID:9463314 PMID:9497252 PMID:9733514 PMID:10864201 PMID:10980530 PMID:12400598 PMID:12815592 PMID:14695534 PMID:15039971 PMID:15843990 PMID:16199547 PMID:16941484 PMID:17124347 PMID:17910737 PMID:18560558 PMID:19431188 PMID:19691550 PMID:20308662 PMID:20966255 PMID:21150274 PMID:21665257 PMID:22649200 PMID:23322442 PMID:23454770 PMID:23807571 PMID:24549055 PMID:24763289 PMID:25077176 PMID:25374739 PMID:25614872 PMID:25741868 PMID:26467025 PMID:26628246 PMID:26757417 PMID:26896183 PMID:27153395 PMID:28492532 PMID:28724667 PMID:28779002 PMID:29360161 PMID:29371908 PMID:29506128 PMID:29922827 PMID:30287823 PMID:30303537 PMID:30549301 PMID:30607632 PMID:30772474 PMID:30982232 PMID:31050087 PMID:31350202 PMID:32068069 PMID:32427313 PMID:32566746 PMID:32676327 PMID:32832836 PMID:33048355 PMID:33471991 PMID:34489640 PMID:36446039 PMID:36988593 More...
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATP5F1D
ATP synthase F1 subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
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ATP5MC2
ATP synthase membrane subunit c locus 2
ISO
DNA:hypermethylation:promoter
RGD
PMID:26929985
RGD:14696811
NCBI chr12:35,078,290...35,089,480
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AURKA
aurora kinase A
disease_progression
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:18485461
RGD:2293871
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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AXIN1
axin 1
susceptibility
ISO
DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human)
RGD
PMID:31143301
RGD:150527861
Ensembl chr16:278,239...337,891
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BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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BAX
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:18452128
RGD:2296023
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCL2
BCL2 apoptosis regulator
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation:promoter
RGD CTD
PMID:18094410 PMID:18342927 PMID:36115647
RGD:2292910 RGD:2293014
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BCL2L1
BCL2 like 1
disease_progression
ISO
RGD
PMID:18342927
RGD:2292910
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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BIRC3
baculoviral IAP repeat containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12926068
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:urinary bladder
RGD
PMID:17905101 PMID:18089718
RGD:2293094 RGD:2293096
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BPTF
bromodomain PHD finger transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:7894493 PMID:8460636 PMID:8554067 PMID:8968102 PMID:9150154 PMID:9452084 PMID:9536098 PMID:9643283 PMID:9760198 PMID:9808526 PMID:10196379 PMID:10227398 PMID:10389907 PMID:10644434 PMID:10804288 PMID:11149425 PMID:11157798 PMID:11320250 PMID:11504767 PMID:11595708 PMID:11710835 PMID:11739404 PMID:11773283 PMID:11802209 PMID:12360400 PMID:12402341 PMID:12655560 PMID:12827452 PMID:15145354 PMID:15172985 PMID:15235020 PMID:15571962 PMID:15617999 PMID:15865297 PMID:16267036 PMID:17305420 PMID:17576681 PMID:18159056 PMID:18489799 PMID:18500671 PMID:19016756 PMID:19504351 PMID:19543972 PMID:20103620 PMID:20104584 PMID:20378548 PMID:20516115 PMID:21203900 PMID:21232165 PMID:21324516 PMID:21553119 PMID:21725363 PMID:21769658 PMID:21922593 PMID:21990134 PMID:22006311 PMID:22434525 PMID:22752604 PMID:22798144 PMID:22923021 PMID:23161852 PMID:23175448 PMID:23397983 PMID:23536787 PMID:23683081 PMID:23961350 PMID:24010542 PMID:24033266 PMID:24218521 PMID:24312913 PMID:24728189 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25724305 PMID:25741868 PMID:25748678 PMID:25802882 PMID:25823446 PMID:26028024 PMID:26187060 PMID:26295337 PMID:26467025 PMID:26852130 PMID:27157322 PMID:27272900 PMID:27553291 PMID:28123851 PMID:28324225 PMID:28492532 PMID:28993434 PMID:29297111 PMID:29310832 PMID:29339979 PMID:29446198 PMID:29470806 PMID:29752822 PMID:29805665 PMID:29975922 PMID:30078507 PMID:30209399 PMID:30322717 PMID:30555256 PMID:30702160 PMID:30720863 PMID:31159747 PMID:31209999 PMID:31300551 PMID:31372034 PMID:31477031 PMID:31528241 PMID:31794323 PMID:31825140 PMID:32546644 PMID:32710294 PMID:32719484 PMID:32772980 PMID:32832836 PMID:32894085 PMID:33087888 PMID:33087929 PMID:33151324 PMID:33442023 PMID:33471991 PMID:34403063 PMID:36605468 PMID:36988593 More...
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
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:2673801 PMID:8673091 PMID:8896551 PMID:8988179 PMID:9150172 PMID:9536098 PMID:11056688 PMID:11802209 PMID:11897832 PMID:12601471 PMID:12673801 PMID:12938098 PMID:16030099 PMID:16140926 PMID:16211554 PMID:16528604 PMID:17011978 PMID:17319787 PMID:17351952 PMID:17576681 PMID:17761984 PMID:17924331 PMID:18097605 PMID:18424508 PMID:18489799 PMID:18593900 PMID:18607349 PMID:19043619 PMID:19200354 PMID:19353265 PMID:19491284 PMID:19563646 PMID:19620486 PMID:20104584 PMID:21063910 PMID:21120943 PMID:21769658 PMID:21939546 PMID:21990134 PMID:22366370 PMID:22505045 PMID:22678057 PMID:22711857 PMID:22762150 PMID:22923021 PMID:22970155 PMID:23035815 PMID:23192360 PMID:23199084 PMID:23469205 PMID:23531862 PMID:23633455 PMID:23983145 PMID:24010542 PMID:24033266 PMID:24212087 PMID:24323938 PMID:24333842 PMID:24549055 PMID:24884479 PMID:25066507 PMID:25146914 PMID:25371446 PMID:25525159 PMID:25628955 PMID:25652403 PMID:25741868 PMID:25786579 PMID:26014432 PMID:26207792 PMID:26295337 PMID:26467025 PMID:26564481 PMID:26577449 PMID:26681312 PMID:26681682 PMID:27060066 PMID:27257965 PMID:27616075 PMID:27767231 PMID:28185119 PMID:28283652 PMID:28492532 PMID:28664506 PMID:28724667 PMID:28888541 PMID:29084914 PMID:29161300 PMID:29176636 PMID:29446198 PMID:29470806 PMID:29625052 PMID:29707112 PMID:29774201 PMID:29907814 PMID:29988080 PMID:30101128 PMID:30287823 PMID:30623411 PMID:31131967 PMID:31209999 PMID:31214711 PMID:31512090 PMID:32058061 PMID:32295079 PMID:32438681 PMID:32599251 PMID:32623391 PMID:32658311 PMID:32806537 PMID:32846166 PMID:33471991 PMID:33643918 PMID:33804961 PMID:34377931 PMID:34597585 PMID:35220195 PMID:35264596 PMID:35464868 PMID:35979650 PMID:36988593 More...
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:8755918 PMID:9450874 PMID:9463314 PMID:9497252 PMID:9733514 PMID:10864201 PMID:10980530 PMID:12400598 PMID:18560558 PMID:19431188 PMID:19691550 PMID:20966255 PMID:21150274 PMID:22649200 PMID:23807571 PMID:25614872 PMID:25741868 PMID:26628246 PMID:27153395 PMID:28492532 PMID:28724667 PMID:28779002 PMID:29360161 PMID:29371908 PMID:30549301 PMID:31050087 PMID:32676327 PMID:33048355 PMID:36988593 More...
NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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CA9
carbonic anhydrase 9
disease_progression
ISO
RGD
PMID:14520462
RGD:2293197
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CALHM1
calcium homeostasis modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr10:100,048,560...100,056,483
Ensembl chr10:103,511,873...103,517,376
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CASP3
caspase 3
disease_progression
ISO
RGD
PMID:17267327
RGD:2298949
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASP9
caspase 9
susceptibility disease_progression
ISO
DNA:polymorphism, deletion: :1263A>G, 293del (human) DNA:SNP:exon:p.Q221R (rs1052576) (human)
RGD
PMID:19252927 PMID:19412632
RGD:2315929 RGD:2315930
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35764155
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CAV1
caveolin 1
severity
ISO
protein:increased expression:urinary bladder
RGD
PMID:12866378
RGD:2289110
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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CBX7
chromobox 7
severity
ISO
mRNA:decreased expression:urinary bladder (human)
RGD
PMID:18984978
RGD:9587361
NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
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CCND1
cyclin D1
ISO
protein:increased expression:bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12372886 PMID:36115647
RGD:13602096
NCBI chr11:64,737,006...64,750,353
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CCND3
cyclin D3
disease_progression
ISO
RGD
PMID:16482499
RGD:2316012
NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498
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CCNE1
cyclin E1
disease_progression severity
ISO
protein:decreased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16739882 PMID:18047954 PMID:20972438 PMID:27514407
RGD:2289267 RGD:2296035
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CCNG1
cyclin G1
ISO
mRNA:decreased expression:bladder (human)
RGD
PMID:27982046
RGD:151361200
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:16361570
RGD:7248437
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD44
CD44 molecule (IN blood group)
ISO
RGD
PMID:16321281
RGD:2289357
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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CD82
CD82 molecule
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:14706010 PMID:17290345
RGD:2289391 RGD:2289401
NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
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CD9
CD9 molecule
disease_progression
ISO
RGD
PMID:14534881
RGD:2326207
NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385
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CDC25A
cell division cycle 25A
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
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CDC25B
cell division cycle 25B
disease_progression
ISO
RGD
PMID:19383904
RGD:2739695
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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CDH1
cadherin 1
disease_progression
ISO
protein:decreased expression:urinary bladder Protein:increased expression:cytoplasm CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17167984 PMID:17520682 PMID:17760743 PMID:26901067
RGD:1599549 RGD:2289491
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDH13
cadherin 13
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410
RGD:2293014
NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
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CDK1
cyclin dependent kinase 1
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
DNA:amplification protein:increased expression:urinary bladder
RGD
PMID:11971182 PMID:16896691
RGD:2289144 RGD:2299056
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
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
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 susceptibility
ISO
RGD
PMID:18027869 PMID:18334837
RGD:2293592 RGD:2293595
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
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:7777061 PMID:7987387 PMID:8668202 PMID:8755727 PMID:8834170 PMID:9660926 PMID:9710613 PMID:9856841 PMID:11078762 PMID:11358797 PMID:15140233 PMID:15146471 PMID:16905682 PMID:17992122 PMID:18983535 PMID:20505745 PMID:21462282 PMID:21507037 PMID:24336570 PMID:28146043 PMID:28492532 PMID:30291219 PMID:30742731 More...
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion DNA:deletion:urinary bladder
RGD
PMID:15590562 PMID:16624482
RGD:2289696 RGD:7248757
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CHD6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr20:37,744,012...37,953,593
Ensembl chr20:38,839,685...38,999,501
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CHEK2
checkpoint kinase 2
susceptibility treatment
ISO
DNA:mutations: :multiple
RGD
PMID:17918154 PMID:21396995
RGD:10401655 RGD:2289704
NCBI chr22:9,757,038...9,811,171
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CLPTM1L
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
Ensembl chr 5:1,361,571...1,388,415
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COL6A3
collagen type VI alpha 3 chain
ISO
mRNA, protein:increased expression:bladder (human)
RGD
PMID:30066698
RGD:401900123
NCBI chr2B:124,554,478...124,644,482
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COMT
catechol-O-methyltransferase
ISO
protein:increased expression:urinary bladder, urine
RGD
PMID:15596044
RGD:2289726
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
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CREBBP
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7525883 PMID:17515069
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CTNNA1
catenin alpha 1
disease_progression
ISO
RGD
PMID:17760743
RGD:2289491
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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CTNNA3
catenin alpha 3
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
NCBI chr10:62,388,454...64,177,116
Ensembl chr10:64,712,576...66,442,238
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CTNNB1
catenin beta 1
disease_progression
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:10192393 PMID:10666372 PMID:17175927 PMID:26822237
RGD:2289829
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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CTSB
cathepsin B
ISO
protein:increased activity:transitional cell carcinoma (human)
RGD
PMID:15183956
RGD:2315615
NCBI chr 8:7,333,498...7,359,264
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22015448
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CXCR2
C-X-C motif chemokine receptor 2
ISO
DNA:SNP
RGD
PMID:19252927
RGD:2315930
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35764155
NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:17406000
RGD:7257712
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
no_association
ISO
DNA:polymorphisms: :3801T>C (human) DNA:polymorphism: :2455A>G (human)
RGD
PMID:18200441 PMID:18979064 PMID:21990318
RGD:7257730 RGD:7257733 RGD:7257736
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
RGD
PMID:21990318
RGD:7257730
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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CYP2C9
cytochrome P450 family 2 subfamily C member 9
ISO
RGD
PMID:16985032
RGD:6903918
NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653
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CYP4B1
cytochrome P450 family 4 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18713828
NCBI chr 1:46,107,787...46,127,162
Ensembl chr 1:47,462,178...47,481,502
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DAPK1
death associated protein kinase 1
ISO
DNA:hypermethylation
RGD
PMID:12124340
RGD:734875
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression
RGD
PMID:14634451
RGD:2301220
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DUSP1
dual specificity phosphatase 1
disease_progression
ISO
RGD
PMID:17690186
RGD:2298694
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
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E2F1
E2F transcription factor 1
disease_progression
ISO
mRNA:increased expression:bladder
RGD
PMID:20421545
RGD:13602004
NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
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EEF1E1
eukaryotic translation elongation factor 1 epsilon 1
disease_progression
ISO
protein:decreased expression:urothelium:
RGD
PMID:24917520
RGD:10401219
NCBI chr 6:7,911,807...7,940,918
Ensembl chr 6:8,192,997...8,222,056
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EGFR
epidermal growth factor receptor
disease_progression
ISO
protein:increased expression:urinary bladder ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:16685269 PMID:18006009 PMID:28492532
RGD:2289943 RGD:2298502
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ENO2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17951193 PMID:22613180
RGD:2293738
NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
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EOMES
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 3:27,601,829...27,608,701
Ensembl chr 3:27,925,086...27,930,274
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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EPHX1
epoxide hydrolase 1
disease_progression
ISO
DNA:SNPs
RGD
PMID:19252927
RGD:2315930
NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:16685269
RGD:2298502
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
disease_progression
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:16685269
RGD:2298502
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
protein:decreased expression:urinary bladder
RGD
PMID:16685269 PMID:18006009
RGD:2289943 RGD:2298502
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:9238033 PMID:11335038 PMID:19085937 PMID:19934020 PMID:25316812 PMID:25741868 PMID:28492532 More...
RGD:11252208
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062074
NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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ESPL1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr12:35,460,500...35,486,794
Ensembl chr12:36,241,533...36,266,101
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16712894 PMID:35764155
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
severity
ISO
protein:increased expression:urinary bladder urothelium (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16700038 PMID:23612777
RGD:7364758
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:21539681
RGD:126781700
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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F2
coagulation factor II, thrombin
severity
ISO
protein:increased expression:urine
RGD
PMID:22236518
RGD:6893573
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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FANCA
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19237606 PMID:24121791
RGD:11344902
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphisms:promoter:-1377G>A,-670A>G CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9070496 PMID:16538171
RGD:2290063
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
susceptibility
ISO
DNA:polymorphisms:promoter:-844T>C
RGD
PMID:16538171
RGD:2290063
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FBXW8
F-box and WD repeat domain containing 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr12:114,487,476...114,607,384
Ensembl chr12:117,863,254...117,983,269
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FERMT2
FERM domain containing kindlin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21624607
NCBI chr14:33,453,983...33,547,721
Ensembl chr14:51,737,188...51,829,766
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FGF1
fibroblast growth factor 1
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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FGFR2
fibroblast growth factor receptor 2
ISO
DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R
RGD
PMID:10602477 PMID:16969861
RGD:2289664 RGD:2301193
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FGFR3
fibroblast growth factor receptor 3
severity disease_progression
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer DNA:mutations protein:increased expression:urinary bladder
OMIM ClinVar RGD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12624096 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000903 PMID:18000976 PMID:18072261 PMID:18076102 PMID:18166262 PMID:18198189 PMID:18231634 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30168875 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31708465 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 PMID:35726512 PMID:36135330 PMID:36474027 More...
RGD:2301223 RGD:2301224 RGD:2301225
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
associated with Schistosomiasis;DNA:hypermethylation:urinary bladder DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival protein:decreased expression:urinary bladder
RGD
PMID:11751381 PMID:15154012 PMID:15591090
RGD:2289897 RGD:2301232 RGD:2301233
NCBI chr 3:59,670,777...61,177,974
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FN1
fibronectin 1
ISO
protein:increased expression:urine
RGD
PMID:20012564
RGD:7205680
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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GGH
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19815704
NCBI chr 8:59,547,821...59,571,523
Ensembl chr 8:61,222,194...61,246,252
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GLI1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179202
NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
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GPX1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15247771 PMID:35764155
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GSK3B
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36115647
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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GSTM1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: : (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18505952 PMID:18544563 PMID:20972438
RGD:6906879
Ensembl chr 1:127,979,238...128,010,411
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GSTO2
glutathione S-transferase omega 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr10:100,868,109...100,901,013
Ensembl chr10:104,326,175...104,357,604
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GSTP1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:7729958 PMID:9111193 PMID:12500666 PMID:18544563 PMID:21213404 PMID:22306368 More...
RGD:10401939 RGD:6906879 RGD:6906883
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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GSTZ1
glutathione S-transferase zeta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530
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HDAC4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21507255
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36115647
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HK1
hexokinase 1
treatment
ISO
RGD
PMID:23893687
RGD:11353960
NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
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HMBS
hydroxymethylbilane synthase
ISO
urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008)
RGD
PMID:16600798
RGD:2301681
NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
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HMGB3
high mobility group box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639441
NCBI chr X:140,632,163...140,639,774
G
HMGN5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:70,180,585...70,268,545
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HOXA9
homeobox A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984
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HRAS
HRas proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
OMIM ClinVar RGD
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19762144 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25695684 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 PMID:39825153 PMID:168335863 More...
RGD:2314833
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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HSPA1A
heat shock protein family A (Hsp70) member 1A
treatment
ISO
RGD
PMID:19914824
RGD:7242743
NCBI chr 6:31,476,710...31,491,411
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2297754
NCBI chr 9:20,884,742...20,886,317
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IFNG
interferon gamma
treatment
ISO
protein:decreased expression:serum
RGD
PMID:11219496 PMID:22906662
RGD:6893349 RGD:8157619
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19415693
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12544349 PMID:21347663
RGD:2290028
NCBI chr 7:46,564,234...46,573,145
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IGFBP5
insulin like growth factor binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr2B:103,932,983...103,956,475
Ensembl chr2B:222,534,967...222,558,432
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IGSF21
immunoglobin superfamily member 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:17,063,522...17,336,389
Ensembl chr 1:18,116,451...18,387,611
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IL1B
interleukin 1 beta
disease_progression
ISO
mRNA:increased expression:urinary bladder tumor (human)
RGD
PMID:21308147
RGD:7175327
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1RN
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) DNA:repeats:intron:IVS2+914_1000dup multiple (human)
RGD
PMID:16698387 PMID:19489682
RGD:6907081 RGD:6907367
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL2
interleukin 2
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1949363 PMID:3262172 PMID:3495671
RGD:8663471
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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INPP4B
inositol polyphosphate-4-phosphatase type II B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr 4:134,405,934...135,213,851
Ensembl chr 4:145,706,307...146,141,029
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ISL1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
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JAK2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36115647
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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JUP
junction plakoglobin
disease_progression severity
ISO
protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001) DNA, protein:mutations, increased expression:urinary bladder protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)
RGD
PMID:9783980 PMID:11585741 PMID:17363521
RGD:2289818 RGD:2291880 RGD:2301748
NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
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KCNJ12
potassium inwardly rectifying channel subfamily J member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chr17:30,190,240...30,233,740
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KDM4A
lysine demethylase 4A
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:23603248
RGD:9587435
NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
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KDM4B
lysine demethylase 4B
ISO
mRNA, protein:increased expression:urinary bladder (human)
RGD
PMID:21930796
RGD:9587740
NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113
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KDM5B
lysine demethylase 5B
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:20226085
RGD:9587778
NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
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KDM6A
lysine demethylase 6A
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:23076834 PMID:23913813 PMID:25741868 PMID:27777708 PMID:28492532
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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KDR
kinase insert domain receptor
severity
ISO
protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119)
RGD
PMID:12215294 PMID:12940780
RGD:2291949 RGD:2301758
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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KISS1
KiSS-1 metastasis suppressor
ISO
mRNA:decreased expression:tumor:loss of expression in all invasive tumors vs normal urothelium, ecpression also associated with histological stage and overall survival
RGD
PMID:12547718
RGD:2292136
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining)
RGD
PMID:15502806
RGD:2292430
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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KLF5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27514407
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KMT2A
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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KMT2D
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
OMIM ClinVar
PMID:1553789 PMID:1875403 PMID:6695174 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21062266 PMID:21079152 PMID:21871821 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24629489 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:26970110 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:30448735 PMID:30544177 PMID:30891959 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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KRT16
keratin 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20186695
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
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KRT5
keratin 5
ISO
RGD
PMID:7507402
RGD:1600196
NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
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LAMA2
laminin subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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LIG1
DNA ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr19:45,056,737...45,110,867
Ensembl chr19:53,706,778...53,761,088
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LOC100969764
sulfotransferase 1A1
ISO
DNA:SNP:CDS:reduced risk associated with the His allele of the R213H polymorphism in women, particularly in those with no history of smoking
RGD
PMID:14643027
RGD:1581442
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LOC100972354
interferon alpha-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17172406
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
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LOC100986475
metallothionein-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7729958 PMID:16565513
NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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LOC100988637
olfactory receptor 8S1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr12:40,222,761...40,225,550
Ensembl chr12:41,099,081...41,101,968
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LOC100990437
NADPH--cytochrome P450 reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530
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LOXL1
lysyl oxidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr15:52,835,675...52,861,324
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LOXL4
lysyl oxidase like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr10:94,861,187...94,881,784
Ensembl chr10:98,357,322...98,372,691
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25695684 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 PMID:39825153 PMID:168335863 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
RGD
PMID:15665277
RGD:2306057
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
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MAP2K7
mitogen-activated protein kinase kinase 7
ISO
mRNA:splice variant:exon 2: (human)
RGD
PMID:32601196
RGD:155230826
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
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MAPK15
mitogen-activated protein kinase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 8:140,468,365...140,474,604
Ensembl chr 8:143,481,567...143,492,859
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MDM2
MDM2 proto-oncogene
severity
ISO
mRNA:increased expression:bladder
RGD
PMID:27798881
RGD:13602098
NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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MGMT
O-6-methylguanine-DNA methyltransferase
susceptibility
ISO
DNA:polymorphisms:cds:p.L53L, p.L84F (human)
RGD
PMID:15885889
RGD:2317672
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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MKI67
marker of proliferation Ki-67
ISO
protein:increased expression:urinary bladder
RGD
PMID:20367636
RGD:2317708
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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MLH1
mutL homolog 1
disease_progression
ISO
RGD
PMID:15296997
RGD:2293518
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP1
matrix metallopeptidase 1
severity
ISO
protein:increased expression:urine (human) DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:11705862 PMID:17986285
RGD:7207077 RGD:7207140
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP13
matrix metallopeptidase 13
ISO
urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors
RGD
PMID:11054671
RGD:2293609
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17466450 PMID:30548095
RGD:2290395
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
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17466450 PMID:30548095
RGD:2290395
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729580
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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MRE11
MRE11 homolog, double strand break repair nuclease
susceptibility
ISO
DNA:snp:3' utr:c.2501A>G rs2155209 (human) ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:18638378 PMID:28492532
RGD:2317733
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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MSH2
mutS homolog 2
disease_progression
ISO
protein:decreased expression:urinary bladder associated with Lynch syndrome DNA:mutations: :multiple
RGD
PMID:18254781 PMID:18389386 PMID:22883484 PMID:26385421
RGD:126790557 RGD:126790580 RGD:2293502 RGD:2293503
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MSH6
mutS homolog 6
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18254781
RGD:2293503
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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MT3
metallothionein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16854967
NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093
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MTHFR
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transversion:cds:g.1298A>C (human) DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) protein:missense mutation:cds:p.A222V (human) DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17311259 PMID:19837268 PMID:20146887 PMID:22126575 PMID:22747749
RGD:6893457 RGD:6893516 RGD:6893521 RGD:6893597
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19261747 PMID:36115647
RGD:10040979
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:19837268
RGD:6893521
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum:
RGD
PMID:10468735
RGD:7245967
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:repeats
RGD
PMID:19191526
RGD:7349339
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MYC
MYC proto-oncogene, bHLH transcription factor
disease_progression susceptibility
ISO
protein:decreased expression:urinary bladder urothelium (human) CTD Direct Evidence: marker/mechanism DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human)
RGD CTD
PMID:2228319 PMID:20939013 PMID:22028816 PMID:23284801
RGD:7207401 RGD:7207418 RGD:7207427
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NAT1
N-acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16003747
NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462
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NAT2
N-acetyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10022756 PMID:15717312 PMID:16327307 PMID:18505952 PMID:20972438 PMID:24221535 More...
RGD:8552670
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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NCAN
neurocan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr19:18,650,522...18,690,882
Ensembl chr19:19,657,766...19,691,998
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NCOR1
nuclear receptor corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr17:34,934,452...35,121,195
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NCSTN
nicastrin
ISO
OMIM:109800
MouseDO
NCBI chr 1:135,697,592...135,713,293
Ensembl chr 1:139,618,229...139,633,911
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NECTIN2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29321541
NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:8069310 PMID:10090487 PMID:10712197 PMID:10862084 PMID:10980545 PMID:12112660 PMID:12746402 PMID:12807981 PMID:15060124 PMID:16835897 PMID:16944272 PMID:19221814 PMID:19292874 PMID:20015894 PMID:23656349 PMID:23913538 PMID:24033266 PMID:25074460 PMID:25541118 PMID:25741868 PMID:26467025 PMID:27838393 PMID:28492532 PMID:28961165 PMID:30014477 PMID:31370276 PMID:32107864 PMID:32860008 PMID:34694046 PMID:35024939 PMID:36988593 More...
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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NME1
NME/NM23 nucleoside diphosphate kinase 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:7614395
RGD:2299071
NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:7614395
RGD:2299071
NCBI chr17:45,255,982...45,261,541
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:10475345
RGD:2292089
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8631603 PMID:21213404
RGD:10401939
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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NRSN1
neurensin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 6:23,953,574...23,974,797
Ensembl chr 6:24,288,702...24,313,372
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PABPC1
poly(A) binding protein cytoplasmic 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783786
NCBI chr 8:97,346,433...97,365,628
Ensembl chr 8:99,518,347...99,537,614
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PHB1
prohibitin 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:8062216
RGD:2292407
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PIP5K1A
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198
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PLAU
plasminogen activator, urokinase
treatment
ISO
protein:increased expression:urinary bladder (human) DNA:snp:3' utr:g.4065C>T (human)
RGD
PMID:16825821 PMID:18336603 PMID:19010488
RGD:4144867 RGD:7241144 RGD:7241213
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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PLK1
polo like kinase 1
severity
ISO
RGD
PMID:15761500 PMID:16837776
RGD:2299938 RGD:2299940
NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779
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PMF1
polyamine modulated factor 1
disease_progression
ISO
RGD
PMID:19088041
RGD:30296651
NCBI chr 1:131,556,843...131,583,180
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PMS2
PMS1 homolog 2, mismatch repair system component
susceptibility
ISO
DNA:SNP: :rs6463524 (human)
RGD
PMID:19692168
RGD:2315025
NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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POLB
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35764155
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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PPARG
peroxisome proliferator activated receptor gamma
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18712722
RGD:2301870
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29275364
NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995
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PRDM2
PR/SET domain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:12,838,201...12,963,735
Ensembl chr 1:13,853,895...13,961,610 Ensembl chr 1:13,853,895...13,961,610
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PRKCA
protein kinase C alpha
severity disease_progression
ISO
protein:increased expression:urinary bladder protein:altered localization:urinary bladder
RGD
PMID:15922420 PMID:16008942
RGD:2292455 RGD:2298669
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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PRSS3
serine protease 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15987713
NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666
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PSCA
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19648920 PMID:20083643
NCBI chr 8:139,384,002...139,394,993
Ensembl chr 8:142,435,849...142,438,401
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PSMB2
proteasome 20S subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:34,869,524...34,911,852
Ensembl chr 1:36,046,963...36,090,294
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PTEN
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:urinary bladder ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:9140396 PMID:9256433 PMID:9735393 PMID:9811831 PMID:10051603 PMID:10698713 PMID:10848731 PMID:10866302 PMID:12075083 PMID:12208743 PMID:12938083 PMID:16773562 PMID:17928923 PMID:18190825 PMID:20600018 PMID:20712882 PMID:21194675 PMID:21659347 PMID:21828076 PMID:22469695 PMID:22962422 PMID:23335809 PMID:23399955 PMID:23886400 PMID:24766807 PMID:24778394 PMID:25527629 PMID:25669429 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28497778 PMID:28526761 PMID:29706350 PMID:29785012 PMID:31079897 PMID:32442409 PMID:35227301 More...
RGD:2291891
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 susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:3' utr:837T>C (human)
RGD CTD
PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 PMID:17093206 PMID:18222600 PMID:18381966 PMID:21255800 PMID:29396848 PMID:36115647 More...
RGD:2300127 RGD:2300200 RGD:5508302
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RAB27A
RAB27A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34291859
NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
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RAB27B
RAB27B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34291859
NCBI chr18:48,099,912...48,274,416
Ensembl chr18:51,542,842...51,604,061
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RALBP1
ralA binding protein 1
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:17606711
RGD:2324917
NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934
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RALGPS1
Ral GEF with PH domain and SH3 binding motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 9:98,033,100...98,342,582
Ensembl chr 9:126,689,557...126,992,628
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RASSF1
Ras association domain family member 1
ISO
DNA:hypermethylation CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15987713 PMID:18702824
RGD:2299860
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
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RB1
RB transcriptional corepressor 1
disease_progression
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
OMIM ClinVar RGD
PMID:1352883 PMID:2181449 PMID:2601691 PMID:7704558 PMID:8651278 PMID:9311732 PMID:9536098 PMID:9973307 PMID:10991691 PMID:11317357 PMID:12173465 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15776430 PMID:15884040 PMID:16199547 PMID:16269091 PMID:16463005 PMID:17026804 PMID:17096365 PMID:17576681 PMID:17960112 PMID:18503160 PMID:19280657 PMID:20059380 PMID:20808897 PMID:22219649 PMID:23981928 PMID:24225018 PMID:24791139 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25928201 PMID:25999316 PMID:26396485 PMID:26925970 PMID:27582626 PMID:27906792 PMID:28193182 PMID:28492532 PMID:28575107 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29625052 PMID:29684080 PMID:31568710 PMID:32218800 PMID:33493472 More...
RGD:2299888
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
RGD
PMID:18089718 PMID:18188593
RGD:2293094 RGD:2298753
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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RETN
resistin
ISO
protein:increased expression:urine
RGD
PMID:18373357
RGD:7207154
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
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RHOA
ras homolog family member A
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12855641 PMID:19896475
RGD:2298872
NCBI chr 3:49,282,009...49,339,887
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RRM2
ribonucleotide reductase regulatory subunit M2
ISO
mRNA:increased expression:bladder (rat) mRNA:increased expression:bladder (mouse) mRNA:increased expression:bladder (human)
RGD
PMID:21139803
RGD:5133688
NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
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RUNX3
RUNX family transcription factor 3
ISO
DNA:promoter:aberrant methylation
RGD
PMID:16230397
RGD:2302553
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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S100A8
S100 calcium binding protein A8
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
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S100A9
S100 calcium binding protein A9
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497
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S100B
S100 calcium binding protein B
ISO
mRNA:decreased expression:urinary bladder urothelium mRNA:increased expression:urinary bladder urothelium
RGD
PMID:17970044
RGD:2316906
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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SERPINE1
serpin family E member 1
ISO
RGD
PMID:19010488
RGD:4144867
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SFN
stratifin
disease_progression
ISO
protein:increased expression:urothelium (human)
RGD
PMID:17645415
RGD:2299928
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SLC11A1
solute carrier family 11 member 1
disease_progression
ISO
DNA:repeat, polymorphism:promoter, cds:p.D543N (human)
RGD
PMID:16516037
RGD:5684951
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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SLC12A7
solute carrier family 12 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
Ensembl chr 5:1,094,769...1,147,759
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SLC19A1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21760912
NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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SMAD2
SMAD family member 2
ISO
RGD
PMID:15548366
RGD:2299964
NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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SMAD4
SMAD family member 4
ISO
protein:decreased expression:urinary bladder
RGD
PMID:11783019
RGD:2299972
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SMC1A
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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SMC1B
structural maintenance of chromosomes 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513
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SOCS1
suppressor of cytokine signaling 1
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:16242928 PMID:17522834
RGD:2298903 RGD:2298906
NCBI chr16:10,196,432...10,198,205
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35764155
NCBI chr21:18,029,831...18,037,526
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14729580 PMID:17974967 PMID:18930813
RGD:7175539
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SOX2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29396848
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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SOX4
SRY-box transcription factor 4
ISO
RGD
PMID:16585165
RGD:1581304
NCBI chr 6:21,422,846...21,427,779
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SPARC
secreted protein acidic and cysteine rich
disease_progression
ISO
RGD
PMID:11696817 PMID:17149610
RGD:2300021 RGD:2300024
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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SPINK1
serine peptidase inhibitor Kazal type 1
disease_progression
ISO
mRNA, protein:decreased expression:urinary bladder
RGD
PMID:16327984
RGD:2300384
NCBI chr 5:143,273,137...143,287,745
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:21483670
RGD:6903265
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11723127 PMID:17093206
NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
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SRSF9
serine and arginine rich splicing factor 9
ISO
mRNA:increased expression:urinary bladder epithelium (human)
RGD
PMID:22178073
RGD:11040443
NCBI chr12:118,043,325...118,052,107
Ensembl chr12:121,417,557...121,425,708
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STAG2
STAG2 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121789 PMID:24121791 PMID:24121792
NCBI chr X:113,150,853...113,293,395
Ensembl chr X:123,389,162...123,472,474
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36115647
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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TACC3
transforming acidic coiled-coil containing protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019
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TERT
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:25741868 PMID:26194807 PMID:26433962 PMID:28492532 PMID:28818973 PMID:31395865 More...
Ensembl chr 5:1,300,960...1,338,872
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TFF1
trefoil factor 1
ISO
protein:increased expression:urinary bladder
RGD
PMID:18283638
RGD:2291996
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
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TGFBR1
transforming growth factor beta receptor 1
ISO
RGD
PMID:9363992
RGD:2302036
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
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THBS1
thrombospondin 1
severity
ISO
protein:decreased expression:bladder
RGD
PMID:20299037
RGD:13602099
NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
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TIMP2
TIMP metallopeptidase inhibitor 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:serum
CTD RGD
PMID:17374529 PMID:17466450 PMID:30548095
RGD:2290395 RGD:2298521
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:18082200
RGD:2290411
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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TLR2
toll like receptor 2
ISO
DNA:deletion:promoter:−196_−174del (human)
RGD
PMID:23142523
RGD:7207893
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
treatment
ISO
RGD
PMID:19788935
RGD:7240556
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TMEFF2
transmembrane protein with EGF like and two follistatin like domains 2
ISO
DNA:hypermethylation:promoter
RGD
PMID:16234815
RGD:2290489
NCBI chr2B:79,242,825...79,489,113
Ensembl chr2B:197,158,689...197,396,254
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1674182
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TOP2A
DNA topoisomerase II alpha
disease_progression
ISO
RGD
PMID:19913893
RGD:2315121
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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TP53
tumor protein p53
disease_progression
ISO
protein:increased expression:urinary bladder ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:224644 PMID:1565143 PMID:1591732 PMID:1631151 PMID:1683921 PMID:1978757 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8344492 PMID:8464896 PMID:8550239 PMID:8633021 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9546439 PMID:9667734 PMID:9704930 PMID:10411893 PMID:10519380 PMID:10797439 PMID:10922393 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11399766 PMID:11479205 PMID:11782540 PMID:11896595 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:15381368 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16007150 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17311302 PMID:17606709 PMID:18208803 PMID:18511570 PMID:18555592 PMID:18628487 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20522432 PMID:20978130 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21514416 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22319594 PMID:22915647 PMID:22999923 PMID:23028800 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24307375 PMID:24501221 PMID:24810334 PMID:24835218 PMID:25318593 PMID:25612911 PMID:25741868 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26628864 PMID:26786923 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27146902 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28975465 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31105275 PMID:31321604 PMID:31775759 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32997996 PMID:33120919 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:34906214 PMID:35974385 PMID:36988593 PMID:37653074 PMID:39060302 More...
RGD:2290536
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:19690775
RGD:2315430
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:urinary bladder
RGD
PMID:10383132
RGD:2291836
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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TRPV1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19502594
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16981987 PMID:17304050 PMID:18032745 PMID:18397877 PMID:18772611 PMID:18830229 PMID:19139070 PMID:20399389 PMID:20547222 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21811971 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22923433 PMID:23254740 PMID:23401075 PMID:23728315 PMID:24033266 PMID:24271014 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25741868 PMID:25889454 PMID:25900779 PMID:26231267 PMID:26332594 PMID:26467025 PMID:27061015 PMID:27174333 PMID:27425891 PMID:27494029 PMID:28065512 PMID:28087349 PMID:28492532 PMID:29221145 PMID:29655203 PMID:29758562 PMID:29932062 PMID:32211034 PMID:32655475 PMID:32917966 PMID:34403804 PMID:35918040 More...
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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TYMP
thymidine phosphorylase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11103787 PMID:15841086 PMID:16937303
RGD:2293716
NCBI chr22:30,772,088...30,776,618
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TYMS
thymidylate synthetase
ISO
RGD
PMID:18463958
RGD:2317413
NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
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UBE2I
ubiquitin conjugating enzyme E2 I
ISO
radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001)
RGD
PMID:16407042
RGD:2301343
Ensembl chr16:1,367,288...1,382,575
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USP7
ubiquitin specific peptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:increased expression:bladder
RGD
PMID:22895562
RGD:13605607
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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VEGFC
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:17094484
RGD:2315482
NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
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VEGFD
vascular endothelial growth factor D
disease_progression
ISO
RGD
PMID:17970053
RGD:2315479
NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704
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VHL
von Hippel-Lindau tumor suppressor
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:19399409
RGD:2325183
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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VWA3A
von Willebrand factor A domain containing 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186
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WIF1
WNT inhibitory factor 1
disease_progression
ISO
DNA:hypermethylation:promoter protein:decreased expression:urinary bladder
RGD
PMID:14517837 PMID:18325051
RGD:2291868 RGD:727214
NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
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WNT7B
Wnt family member 7B
ISO
mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003)
RGD
PMID:9461004
RGD:2299932
Ensembl chr22:44,988,647...45,044,841
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XDH
xanthine dehydrogenase
ISO
protein:decreased activity:urinary bladder
RGD
PMID:20087949
RGD:7247647
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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XRCC1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:polymorphism: :p.R399Q DNA:SNP: p.R399Q (human) DNA:polymorphisms: :multiple
RGD
PMID:17425776 PMID:18272472 PMID:18765423
RGD:150530493 RGD:2302568 RGD:2302572
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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YJEFN3
YjeF N-terminal domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr19:18,966,788...18,976,052
Ensembl chr19:19,964,456...19,973,200
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ZNF609
zinc finger protein 609
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35567596
NCBI chr15:43,405,805...43,628,201
Ensembl chr15:61,735,706...61,912,212
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PMF1
polyamine modulated factor 1
disease_progression
ISO
RGD
PMID:22682992
RGD:30296649
NCBI chr 1:131,556,843...131,583,180
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PTEN
phosphatase and tensin homolog
disease_progression
ISO
associated with schistosomiasis;protein:decreased expression:urothelium (human)
RGD
PMID:26916953
RGD:127285612
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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ACTL7A
actin like 7A
ISO
RGD
PMID:29058301
RGD:13831338
NCBI chr 9:80,014,898...80,016,379
Ensembl chr 9:108,188,166...108,189,473
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BIRC7
baculoviral IAP repeat containing 7
disease_progression
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
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CA2
carbonic anhydrase 2
severity
ISO
protein:increased expression:bladder epithelial cell
RGD
PMID:28004470
RGD:408426005
NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
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FGFR3
fibroblast growth factor receptor 3
severity
ISO
protein:increased expression:urothelial cells (human)
RGD
PMID:28507621
RGD:38500205
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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KDM6A
lysine demethylase 6A
susceptibility
ISO
associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human)
RGD
PMID:30352907
RGD:150429735
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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