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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Chrm3
cholinergic receptor, muscarinic 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077972 , PMID:17922784
RGD:5133442
NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
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Fgf2
fibroblast growth factor 2
IEP
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder
RGD
PMID:17763394
RGD:2315846
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2055425
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Myocd
myocardin
ISS
MouseDO
NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
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Ngf
nerve growth factor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:15448108
RGD:7242800
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Rassf1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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Rgs2
regulator of G-protein signaling 2
treatment
IEP
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
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Rgs3
regulator of G-protein signaling 3
treatment
IEP
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr 5:78,429,017...78,567,281
Ensembl chr 5:78,428,669...78,567,288
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Rgs4
regulator of G-protein signaling 4
treatment
IEP
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
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Slc18a3
solute carrier family 18 member A3
IEP
associated with Spinal Cord Injuries;protein:decreased expression:axon terminus
RGD
PMID:17229408
RGD:5686699
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Vip
vasoactive intestinal peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18299998
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22232670
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Bladder carcinoma
ClinVar
PMID:7773297 PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 PMID:11038465 PMID:11055896 PMID:11314002 PMID:11429702 PMID:11879084 PMID:12009017 PMID:15772091 PMID:15880580 PMID:16841094 PMID:16912704 PMID:17384684 PMID:18000903 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20453470 PMID:20542753 PMID:21273588 PMID:21510009 PMID:22869148 PMID:23200862 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Bladder carcinoma
ClinVar
PMID:16443854 PMID:18039947 PMID:19382114 PMID:21850009 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23429430 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:31394527
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Bladder carcinoma
ClinVar
PMID:16443854 PMID:18039947 PMID:19382114 PMID:21850009 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23429430 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:31394527
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Pmf1
polyamine-modulated factor 1
disease_progression
ISO
RGD
PMID:22682992
RGD:30296649
NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Diverticulum of bladder
ClinVar
PMID:25741868
NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Acontractile detrusor ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar OMIM
PMID:25741868 PMID:31708116
NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
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Lztr1
leucine-zipper-like transcription regulator 1
ISO
ClinVar Annotator: match by term: Bladder exstrophy
ClinVar
NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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Tp63
tumor protein p63
ISS
OMIM:600057
MouseDO
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Adra1a
adrenoceptor alpha 1A
IMP
RGD
PMID:20886573
RGD:5688368
NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
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Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:23313213
RGD:7257549
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col3a1
collagen type III alpha 1 chain
treatment
IEP
RGD
PMID:23313213
RGD:7257549
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
RGD
PMID:21356374
RGD:7257709
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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Eln
elastin
treatment
IEP
RGD
PMID:23313213
RGD:7257549
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:urinary bladder (rat)
RGD
PMID:12118092
RGD:9068887
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Htr2a
5-hydroxytryptamine receptor 2A
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:23344575
RGD:7257660
NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
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Mmp7
matrix metallopeptidase 7
treatment
IEP
RGD
PMID:23313213
RGD:7257549
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
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Ngf
nerve growth factor
treatment
IDA
RGD
PMID:22795377
RGD:7242774
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Nos3
nitric oxide synthase 3
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:21256554
RGD:4891960
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Optn
optineurin
IEP
protein:increased expression:urinary bladder:
RGD
PMID:16361812
RGD:7775024
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15311063
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Sod2
superoxide dismutase 2
IEP
RGD
PMID:21060756
RGD:7175518
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Actl7a
actin-like 7a
ISO
RGD
PMID:29058301
RGD:13831338
NCBI chr 5:73,494,582...73,498,012
Ensembl chr 5:73,496,027...73,497,609
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16439621 PMID:16474404 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17603483 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21483012 PMID:21784453 PMID:22180495 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23273605 PMID:23352452 PMID:23833300 PMID:24033266 PMID:25157968 PMID:25463315 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29595366
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:7780957 PMID:8521414 PMID:9324288 PMID:10491434 PMID:16234564 PMID:16896043 PMID:21462282 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10435629 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:18413839 PMID:22046346 PMID:22908275 PMID:23220880 PMID:25157968 PMID:26619011
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:26619011
NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma protein:increased expression:urothelial cells (human)
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8845844 PMID:8858131 PMID:9438390 PMID:9677066 PMID:9843049 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11429702 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 , PMID:28507621
RGD:38500205
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 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:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 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:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 PMID:22588879 PMID:23569304 PMID:24033266 PMID:24803665 PMID:25157968 PMID:26619011 PMID:28049852
NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17332249 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:28941273 PMID:29446767 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:26619011 PMID:27535533 PMID:28492532 PMID:29706350
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Transitional cell bladder carcinoma
ClinVar
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1644930 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9096669 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:16288208 PMID:16312222 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16682957 PMID:16736287 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21470402 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22844452 PMID:22847613 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22983585 PMID:22999923 PMID:23031740 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23406775 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24122735 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24766216 PMID:24810334 PMID:24835218 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25619955 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28915717 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29416011 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079 PMID:32401780
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNPs: :rs2071047,rs17563(human)
RGD
PMID:24131739
RGD:13442498
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
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Cdc5l
cell division cycle 5-like
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 9:17,949,764...17,988,514
Ensembl chr 9:17,949,764...17,988,509
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Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
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Emc1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:26942288 PMID:27657687
NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
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Gdf6
growth differentiation factor 6
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436
NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Hnf1b
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:24429398 PMID:25741868
NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
DNA: SNP: :g.1267A>G
RGD
PMID:20692469
RGD:7242732
NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
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Lifr
LIF receptor subunit alpha
ISO ISS
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar MouseDO
PMID:25741868 PMID:28334964 PMID:28492532
NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28381549
NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
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Ofd1
OFD1, centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:29,562,165...29,602,934
Ensembl chr X:29,562,165...29,602,925
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687 PMID:28492532
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:17357069 PMID:18235093 PMID:22995991 PMID:23536131 PMID:24429398 PMID:25741868 PMID:27657687 PMID:28492532 PMID:30143558 PMID:30586318
NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
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Six2
SIX homeobox 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
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Slit2
slit guidance ligand 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:26026792
NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:26026792
NCBI chr 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110
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Tbx6
T-box transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30578417
NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
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Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar Annotator: match by OMIM:610805
OMIM ClinVar
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479
NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
ClinVar
PMID:25741868 PMID:26026792
NCBI chr 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110
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Upk3a
uroplakin 3A
ISO
ClinVar Annotator: match by null
ClinVar
PMID:15888565 PMID:16731295
NCBI chr 7:125,920,357...125,925,430
Ensembl chr 7:125,920,357...125,925,430
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Bmp4
bone morphogenetic protein 4
ISO
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human)
RGD
PMID:21927809
RGD:13446406
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Tbx18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral
ClinVar OMIM
PMID:26235987
NCBI chr 8:95,359,354...95,387,363
Ensembl chr 8:95,359,354...95,387,363
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3
ClinVar OMIM
PMID:25741868 PMID:28381549 PMID:28492532
NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
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Myocd
myocardin
ISO
ClinVar Annotator: match by term: MEGABLADDER, CONGENITAL
OMIM ClinVar
PMID:31513549
NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:12097257 PMID:12491499 PMID:12672316 PMID:16615107 PMID:16644204 PMID:16777318 PMID:24504028 PMID:25741868 PMID:25823446 PMID:26187060 PMID:26295337 PMID:26467025 PMID:28477318 PMID:29446198 PMID:29470806 PMID:30209399 PMID:30702160
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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Cep89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:21681106
NCBI chr 1:91,663,723...91,705,979
Ensembl chr 1:91,663,736...91,706,094
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Prepl
prolyl endopeptidase-like
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:11260385 PMID:11748844 PMID:15635077 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662
NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
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Slc3a1
solute carrier family 3 member 1
susceptibility
ISO
DNA:missense mutations ClinVar Annotator: match by term: Cystinuria ClinVar Annotator: match by OMIM:220100
ClinVar OMIM
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10620184 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16225397 PMID:17010017 PMID:17880288 PMID:18332091 PMID:18414213 PMID:18704508 PMID:18947684 PMID:19782624 PMID:20517292 PMID:21255007 PMID:21488254 PMID:21677404 PMID:22480232 PMID:22493502 PMID:22796000 PMID:23007880 PMID:23532419 PMID:24033266 PMID:24215330 PMID:24610330 PMID:25109415 PMID:25296721 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843 , PMID:8054986
RGD:1600015
NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
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Slc7a9
solute carrier family 7 member 9
ISO
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Cystinuria ClinVar Annotator: match by term: Cystine urolithiasis ClinVar Annotator: match by OMIM:220100
ClinVar OMIM
PMID:6031738 PMID:10471498 PMID:11013083 PMID:11157794 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12234930 PMID:12239244 PMID:12371955 PMID:12820697 PMID:15635077 PMID:15670723 PMID:16138908 PMID:16225397 PMID:16374432 PMID:16834950 PMID:16838140 PMID:17539912 PMID:18414213 PMID:19782624 PMID:21255007 PMID:21677404 PMID:21681106 PMID:22480232 PMID:23532419 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25599739 PMID:25741868 PMID:25964309 PMID:26123750 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28812535 , PMID:10471498
RGD:737767
NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
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Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:18563302
RGD:2315964
NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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Adcyap1r1
ADCYAP receptor type I
IEP
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 4:85,662,809...85,711,696
Ensembl chr 4:85,662,892...85,711,696
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Bdnf
brain-derived neurotrophic factor
IMP IEP
RGD
PMID:20079809 , PMID:9631447
RGD:5684910 , RGD:8657090
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cat
catalase
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Csf3
colony stimulating factor 3
IEP
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Esr2
estrogen receptor 2
IEP
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 1:72,636,959...72,643,255
Ensembl chr 1:72,635,267...72,643,255
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Il18
interleukin 18
IEP
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
IEP IDA
mRNA, protein:increased expression:urinary bladder
RGD
PMID:11948286 , PMID:23000860
RGD:6907118 , RGD:7175333
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il2
interleukin 2
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Kdr
kinase insert domain receptor
IDA
RGD
PMID:21412823
RGD:5684428
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Lta
lymphotoxin alpha
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mif
macrophage migration inhibitory factor
IEP
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 , PMID:19066630
RGD:1642002 , RGD:4890977
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mpo
myeloperoxidase
IEP
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:214,663,929...214,693,197
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr 1:214,725,482...214,756,653
G
Ngf
nerve growth factor
treatment
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16889433 , PMID:20127836 , PMID:11350415 , PMID:19996110
RGD:7242782 , RGD:7242808 , RGD:7242802
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Ngfr
nerve growth factor receptor
IEP
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
G
Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
G
Ptger4
prostaglandin E receptor 4
IDA
RGD
PMID:20860016
RGD:5147913
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:20602232
RGD:5135058
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
G
Sod1
superoxide dismutase 1
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Sod2
superoxide dismutase 2
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Tacr1
tachykinin receptor 1
IMP
RGD
PMID:17382773
RGD:2304340
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
G
Tlr5
toll-like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
G
Tnf
tumor necrosis factor
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
IDA
protein:increased expression:nuclei:
RGD
PMID:20879002
RGD:10053565
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
G
Bad
BCL2-associated agonist of cell death
treatment
IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:23129268
RGD:10053664
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
G
Casp12
caspase 12
IEP
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle
RGD
PMID:26370333
RGD:13782173
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
G
Rgs2
regulator of G-protein signaling 2
IEP
RGD
PMID:18372098
RGD:13524574
NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
G
Gsr
glutathione-disulfide reductase
IEP
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
G
Camkmt
calmodulin-lysine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
G
Ppm1b
protein phosphatase, Mg2+/Mn2+ dependent, 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
G
Prepl
prolyl endopeptidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
G
Slc3a1
solute carrier family 3 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
G
Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
G
Csf2
colony stimulating factor 2
IEP
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
G
Esr2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
G
Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
G
Ngf
nerve growth factor
treatment
ISO
protein:increased expression:serum, urine
RGD
PMID:23028581 , PMID:18162370 , PMID:20227820
RGD:7242773 , RGD:7242805 , RGD:7242781
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20624991
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
G
Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Neurogenic bladder
ClinVar
NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
G
Ngf
nerve growth factor
treatment
ISO IDA
associated with Meningomyelocele;protein:increased expression:urine associated with Spinal Cord Injuries
RGD
PMID:23301927 , PMID:22220508
RGD:7242771 , RGD:7242776
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Adcyap1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16322346
NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
G
Bdkrb1
bradykinin receptor B1
IMP
RGD
PMID:15576455
RGD:1625040
NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:urine
RGD
PMID:19784793
RGD:7248423
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15371886
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Gja1
gap junction protein, alpha 1
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:17855776
RGD:7207474
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
G
Gja5
gap junction protein, alpha 5
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:17855776
RGD:7207474
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
G
Ngf
nerve growth factor
treatment
IDA ISO
associated with Hypertension CTD Direct Evidence: marker/mechanism associated with Cystitis associated with Cystitis;protein:increased expression:urine protein:increased expression:serum
CTD
PMID:16600756 , PMID:22473863 , PMID:17050722 , PMID:21605172 , PMID:21717507 , PMID:21826717
RGD:7242775 , RGD:7242798 , RGD:7242780 , RGD:7242779 , RGD:7242778
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP
associated with Spinal Cord Injuries
RGD
PMID:28954467
RGD:13434913
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
G
Nrg1
neuregulin 1
treatment
IEP
RGD
PMID:24152577
RGD:10449030
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
G
Penk
proenkephalin
treatment
ISO
RGD
PMID:23316929
RGD:10003040
NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
G
Trpa1
transient receptor potential cation channel, subfamily A, member 1
IMP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21367919 PMID:23523557 , PMID:21367919
RGD:10043365
NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
G
Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities ClinVar Annotator: match by OMIM:120330
OMIM ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9760197 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:22213154 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532
NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
G
Ache
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29644616
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
G
Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:urinary bladder
RGD
PMID:18190825
RGD:2291891
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
G
Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:urinary bladder
RGD
PMID:14532840
RGD:2315608
NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
G
Amacr
alpha-methylacyl-CoA racemase
severity
ISO
RGD
PMID:18648853
RGD:2315629
NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
G
Amfr
autocrine motility factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9241080
NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
G
Ang
angiogenin
ISO
protein:increased expression:plasma protein:increased expression:urine
RGD
PMID:15912517 , PMID:15329320
RGD:2325700 , RGD:2325704
NCBI chr15:28,022,926...28,028,636
G
Ankfy1
ankyrin repeat and FYVE domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
G
Anpep
alanyl aminopeptidase, membrane
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:141,561,364...141,604,249
Ensembl chr 1:141,561,334...141,604,273
G
Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
RGD
PMID:19041121
RGD:2315660
NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
G
Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
G
Areg
amphiregulin
disease_progression
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11507076 , PMID:11133810
RGD:2292661 , RGD:2292662
NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
G
As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094
NCBI chr 1:266,482,787...266,514,570
Ensembl chr 1:266,482,858...266,514,569
G
Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 7:104,670,076...104,951,090
Ensembl chr 7:104,669,672...104,801,045
G
Asxl2
ASXL transcriptional regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
G
Atp5f1d
ATP synthase F1 subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
G
Atp5mc2
ATP synthase membrane subunit c locus 2
ISO
DNA:hypermethylation:promoter
RGD
PMID:26929985
RGD:14696811
NCBI chr 7:144,264,207...144,272,578
Ensembl chr 7:144,264,199...144,272,578
G
Aurka
aurora kinase A
disease_progression
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:18485461
RGD:2293871
NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
G
Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
G
Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:18452128
RGD:2296023
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
G
Bcl2
BCL2, apoptosis regulator
severity
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410 , PMID:18342927
RGD:2293014 , RGD:2292910
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Bcl2l1
Bcl2-like 1
disease_progression
ISO
RGD
PMID:18342927
RGD:2292910
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
G
Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12926068
NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
G
Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
protein:increased expression:urinary bladder
RGD
PMID:17905101 , PMID:18089718
RGD:2293096 , RGD:2293094
NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
G
Bptf
bromodomain PHD finger transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
G
Brca1
BRCA1, DNA repair associated
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410
RGD:2293014
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
G
Ca9
carbonic anhydrase 9
disease_progression
ISO
RGD
PMID:14520462
RGD:2293197
NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
G
Calhm1
calcium homeostasis modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:266,916,312...266,919,031
Ensembl chr 1:266,916,312...266,919,031
G
Casp3
caspase 3
disease_progression
ISO
RGD
PMID:17267327
RGD:2298949
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp9
caspase 9
susceptibility disease_progression
ISO
DNA:polymorphism, deletion: :1263A>G, 293del (human) DNA:SNP:exon:p.Q221R (rs1052576) (human)
RGD
PMID:19412632 , PMID:19252927
RGD:2315929 , RGD:2315930
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
G
Cav1
caveolin 1
severity
ISO
protein:increased expression:urinary bladder
RGD
PMID:12866378
RGD:2289110
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Cbx7
chromobox 7
severity
ISO
mRNA:decreased expression:urinary bladder (human)
RGD
PMID:18984978
RGD:9587361
NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
G
Ccnd1
cyclin D1
ISO
protein:increased expression:bladder
RGD
PMID:12372886
RGD:13602096
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
G
Ccnd3
cyclin D3
disease_progression
ISO
RGD
PMID:16482499
RGD:2316012
NCBI chr 9:15,404,816...15,410,905
Ensembl chr 9:15,404,822...15,410,943
G
Ccne1
cyclin E1
severity disease_progression
ISO
protein:decreased expression:urinary bladder CTD Direct Evidence: marker/mechanism
CTD
PMID:20972438 PMID:27514407 , PMID:16739882 , PMID:18047954
RGD:2289267 , RGD:2296035
NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:16361570
RGD:7248437
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Cd44
CD44 molecule (Indian blood group)
ISO
RGD
PMID:16321281
RGD:2289357
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
G
Cd82
Cd82 molecule
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:14706010 , PMID:17290345
RGD:2289401 , RGD:2289391
NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
G
Cd9
CD9 molecule
disease_progression
ISO
RGD
PMID:14534881
RGD:2326207
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
G
Cdc25a
cell division cycle 25A
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519
G
Cdc25b
cell division cycle 25B
disease_progression
ISO
RGD
PMID:19383904
RGD:2739695
NCBI chr 3:123,731,539...123,741,696
Ensembl chr 3:123,731,539...123,741,339
G
Cdh1
cadherin 1
disease_progression
ISO IEP
protein:decreased expression:urinary bladder CTD Direct Evidence: marker/mechanism Protein:increased expression:cytoplasm
CTD
PMID:17520682 PMID:26901067 , PMID:17760743 , PMID:17167984
RGD:2289491 , RGD:1599549
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
G
Cdh13
cadherin 13
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410
RGD:2293014
NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
G
Cdk1
cyclin-dependent kinase 1
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr20:20,576,341...20,591,510
Ensembl chr20:20,576,377...20,591,549
G
Cdk4
cyclin-dependent kinase 4
disease_progression
IEP ISO
protein:increased expression:urinary bladder DNA:amplification
RGD
PMID:16896691 , PMID:11971182
RGD:2289144 , RGD:2299056
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18640142
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
susceptibility disease_progression
ISO
RGD
PMID:18027869 , PMID:18334837
RGD:2293595 , RGD:2293592
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:hypermethylation:promoter CTD Direct Evidence: marker/mechanism|therapeutic DNA:deletion protein:increased expression:urinary bladder
CTD
PMID:12973940 PMID:15987713 , PMID:17119258 , PMID:15897688 , PMID:18234280
RGD:2296052 , RGD:2289687 , RGD:2296048
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
G
Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
DNA:deletion
RGD
PMID:15897688
RGD:2289687
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion:urinary bladder
RGD
PMID:15590562 , PMID:16624482
RGD:2289696 , RGD:7248757
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
G
Chd6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
G
Chek2
checkpoint kinase 2
susceptibility treatment
ISO IEP
DNA:mutations: :multiple
RGD
PMID:17918154 , PMID:21396995
RGD:2289704 , RGD:10401655
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
G
Clptm1l
CLPTM1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 1:32,281,207...32,297,196
Ensembl chr 1:32,281,207...32,297,190
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Comt
catechol-O-methyltransferase
ISO
protein:increased expression:urinary bladder, urine
RGD
PMID:15596044
RGD:2289726
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7525883 PMID:17515069
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Ctnna1
catenin alpha 1
disease_progression
ISO
RGD
PMID:17760743
RGD:2289491
NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
G
Ctnnb1
catenin beta 1
disease_progression
ISO ISS
OMIM:109800
MouseDO
PMID:17175927
RGD:2289829
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
G
Ctsb
cathepsin B
ISO
protein:increased activity:transitional cell carcinoma (human)
RGD
PMID:15183956
RGD:2315615
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
DNA:SNP
RGD
PMID:19252927
RGD:2315930
NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
RGD
PMID:17406000
RGD:7257712
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association
ISO
DNA:polymorphisms: :3801T>C (human) DNA:polymorphism: :2455A>G (human)
RGD
PMID:21990318 , PMID:18200441 , PMID:18979064
RGD:7257730 , RGD:7257736 , RGD:7257733
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
RGD
PMID:21990318
RGD:7257730
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
G
Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
ISO
RGD
PMID:16985032
RGD:6903918
NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
G
Cyp4b1
cytochrome P450, family 4, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18713828
NCBI chr 5:134,508,728...134,526,103
Ensembl chr 5:134,508,730...134,526,089
G
Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation
RGD
PMID:12124340
RGD:734875
NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
G
Dnmt1
DNA methyltransferase 1
ISO
protein:increased expression (in humans)
RGD
PMID:14634451
RGD:2301220
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
G
Dusp1
dual specificity phosphatase 1
disease_progression
ISO
RGD
PMID:17690186
RGD:2298694
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
G
E2f1
E2F transcription factor 1
disease_progression
ISO
mRNA:increased expression:bladder
RGD
PMID:20421545
RGD:13602004
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
G
Eef1e1
eukaryotic translation elongation factor 1 epsilon 1
disease_progression
ISO
protein:decreased expression:urothelium:
RGD
PMID:24917520
RGD:10401219
NCBI chr17:26,785,017...26,795,723
Ensembl chr17:26,785,029...26,797,161
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
CTD
PMID:11723127 PMID:23523951 , PMID:18006009 , PMID:16685269
RGD:2289943 , RGD:2298502
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Eno2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22613180 , PMID:17951193
RGD:2293738
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
G
Eomes
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
G
Ephx1
epoxide hydrolase 1
disease_progression
ISO
DNA:SNPs
RGD
PMID:19252927
RGD:2315930
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
G
Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:16685269 , PMID:16771730
RGD:2298502 , RGD:2289934
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
G
Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:16685269
RGD:2298502
NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
G
Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18006009 , PMID:16685269
RGD:2289943 , RGD:2298502
NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791 PMID:27111033 , PMID:25316812
RGD:11252208
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062074
NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
G
Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr 7:143,896,890...143,923,868
Ensembl chr 7:143,897,014...143,923,868
G
Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16712894
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
G
Esr2
estrogen receptor 2
severity
ISO
protein:increased expression:urinary bladder urothelium (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16700038 , PMID:23612777
RGD:7364758
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
F2
coagulation factor II
severity
ISO
protein:increased expression:urine
RGD
PMID:22236518
RGD:6893573
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
G
Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791 , PMID:19237606
RGD:11344902
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphisms:promoter:-1377G>A,-670A>G CTD Direct Evidence: marker/mechanism
CTD
PMID:9070496 , PMID:16538171
RGD:2290063
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Faslg
Fas ligand
susceptibility
ISO
DNA:polymorphisms:promoter:-844T>C
RGD
PMID:16538171
RGD:2290063
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
G
Fbxw8
F-box and WD repeat domain containing 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr12:44,046,204...44,138,138
Ensembl chr12:44,046,217...44,138,138
G
Fermt2
FERM domain containing kindlin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21624607
NCBI chr15:19,807,806...19,876,557
Ensembl chr15:19,807,808...19,876,408
G
Fgf1
fibroblast growth factor 1
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Fgfr2
fibroblast growth factor receptor 2
ISO
DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) associated with Acrocephalosyndactylia (MeSH:D000168)
RGD
PMID:10602477 , PMID:16969861
RGD:2301193 , RGD:2289664
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
G
Fgfr3
fibroblast growth factor receptor 3
severity disease_progression
ISO
DNA:mutations ClinVar Annotator: match by term: Urinary bladder cancer CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant tumor of urinary bladder protein:increased expression:urinary bladder
ClinVar CTD OMIM
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11314002 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17875876 PMID:18000903 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20348956 PMID:20453470 PMID:21510009 PMID:21936542 PMID:24121792 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:26853465 PMID:28492532 , PMID:18231634 , PMID:18166262 , PMID:18072261 , PMID:18413799 , PMID:10471491
RGD:2301223 , RGD:2301224 , RGD:2301225 , RGD:2301222 , RGD:2289864
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
G
Fhit
fragile histidine triad diadenosine triphosphatase
ISO
protein:decreased expression:urinary bladder associated with Schistosomiasis;DNA:hypermethylation:urinary bladder
RGD
PMID:15591090 , PMID:11751381 , PMID:15154012
RGD:2301232 , RGD:2289897 , RGD:2301233
NCBI chr15:15,697,292...16,862,873
G
Fn1
fibronectin 1
ISO
protein:increased expression:urine
RGD
PMID:20012564
RGD:7205680
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
G
Ggh
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19815704
NCBI chr 5:34,040,258...34,063,369
Ensembl chr 5:34,040,258...34,063,361
G
Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179202
NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15247771
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: : (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18505952 PMID:20972438 , PMID:18544563
RGD:6906879
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gsto2
glutathione S-transferase omega 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
G
Gstp1
glutathione S-transferase pi 1
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD
PMID:7729958 PMID:12500666 PMID:22306368 , PMID:18544563 , PMID:21213404 , PMID:9111193
RGD:6906879 , RGD:10401939 , RGD:6906883
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: : (human)
RGD
PMID:18544563
RGD:6906879
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Gstz1
glutathione S-transferase zeta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
G
H19
H19, imprinted maternally expressed transcript (non-protein coding)
ISO
DNA:hypomethylation DNA:SNP mRNA:increased expression:urinary bladder
RGD
PMID:18950807 , PMID:11726548 , PMID:18262338 , PMID:9886562
RGD:2306168 , RGD:2306180 , RGD:2306171 , RGD:2306184
NCBI chr 1:215,744,404...215,747,080
G
Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21507255
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
G
Hk1
hexokinase 1
treatment
IDA
RGD
PMID:23893687
RGD:11353960
NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
G
Hmbs
hydroxymethylbilane synthase
ISO
urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) (human)
RGD
PMID:16600798
RGD:2301681
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
G
Hmgb3
high mobility group box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639441
NCBI chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325 Ensembl chr14:36,690,249...36,694,325
G
Hmgn5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:80,134,557...80,142,902
Ensembl chr X:80,134,557...80,142,902
G
Hoxa9
homeobox A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
G
Hras
HRas proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Urinary bladder cancer ClinVar Annotator: match by term: Malignant tumor of urinary bladder CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:2228319 PMID:2278634 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:15958052 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 , PMID:19762144 , PMID:16818665
RGD:2314833 , RGD:11060144
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
treatment
ISO
RGD
PMID:19914824
RGD:7242743
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2297754
NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
G
Ifng
interferon gamma
treatment
ISO
protein:decreased expression:serum
RGD
PMID:22906662 , PMID:11219496
RGD:6893349 , RGD:8157619
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19415693
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igfbp3
insulin-like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21347663 , PMID:12544349
RGD:2290028
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Igfbp5
insulin-like growth factor binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 9:80,154,230...80,166,813
Ensembl chr 9:80,150,211...80,167,033
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Igsf21
immunoglobin superfamily, member 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:158,503,090...158,735,702
Ensembl chr 5:158,503,244...158,549,496
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:increased expression:urinary bladder tumor (human)
RGD
PMID:21308147
RGD:7175327
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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:19489682 , PMID:16698387
RGD:6907081 , RGD:6907367
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1949363 PMID:3495671 , PMID:3262172
RGD:8663471
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Inpp4b
inositol polyphosphate-4-phosphatase type II B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr19:29,592,889...30,341,528
Ensembl chr19:29,597,905...29,968,424
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Isl1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
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Jup
junction plakoglobin
disease_progression severity
ISO
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:2291880 , RGD:2301748 , RGD:2289818
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
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Kdm4a
lysine demethylase 4A
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:23603248
RGD:9587435
NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
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Kdm4b
lysine demethylase 4B
ISO
mRNA, protein:increased expression:urinary bladder (human)
RGD
PMID:21930796
RGD:9587740
NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
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Kdm5b
lysine demethylase 5B
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:20226085
RGD:9587778
NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
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Kdm6a
lysine demethylase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr X:4,805,493...4,945,788
Ensembl chr X:4,806,277...4,945,944
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Kdr
kinase insert domain receptor
severity
ISO
RGD
PMID:12940780 , PMID:12215294
RGD:2291949 , RGD:2301758
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Kiss1
KiSS-1 metastasis-suppressor
ISO
RGD
PMID:12547718
RGD:2292136
NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
urinary bladder small cell carcinoma
RGD
PMID:15502806
RGD:2292430
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Klf5
Kruppel-like factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27514407
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 4:82,506...109,986 NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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Kras
KRAS proto-oncogene, GTPase
ISO
transitional cell bladder carcinoma, OMIM:109800 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bladder cancer ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic
CTD ClinVar OMIM
PMID:1553789 PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:29644616 , PMID:1553789
RGD:1600467
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Krt16
keratin 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20186695
NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Krt5
keratin 5
IEP
RGD
PMID:7507402
RGD:1600196
NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
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Lama2
laminin subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
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Lig1
DNA ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
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Loxl1
lysyl oxidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
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Loxl4
lysyl oxidase-like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr 1:261,833,365...261,853,599
Ensembl chr 1:261,835,992...261,853,495
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder ClinVar Annotator: match by term: Urinary bladder cancer ClinVar Annotator: match by term: Bladder cancer
ClinVar
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Magea9
MAGE family member A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17290406
NCBI chr X:147,491,247...147,496,650
Ensembl chr X:147,493,880...147,496,649
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Map2k4
mitogen activated protein kinase kinase 4
ISO
RGD
PMID:15665277
RGD:2306057
NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
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Mapk15
mitogen-activated protein kinase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 7:117,041,287...117,061,799
Ensembl chr 7:117,055,395...117,061,047
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Mdm2
MDM2 proto-oncogene
severity
ISO
mRNA:increased expression:bladder
RGD
PMID:27798881
RGD:13602098
NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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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 chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026881
NCBI chr 8:45,746,948...45,747,027
Ensembl chr 8:45,746,948...45,747,027
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026881
NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
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Mir152
microRNA 152
severity
ISO
miRNA:decreased expression:urinary bladder
RGD
PMID:30015946
RGD:19165141
NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
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Mir34b
microRNA 34b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026881
NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
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Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639441
NCBI chr X:16,109,870...16,109,948
Ensembl chr X:16,109,870...16,109,948
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Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026881
NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
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Mki67
marker of proliferation Ki-67
IEP
protein:increased expression:urinary bladder
RGD
PMID:20367636
RGD:2317708
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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Mlh1
mutL homolog 1
disease_progression
ISO
RGD
PMID:15296997
RGD:2293518
NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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Mmp1
matrix metallopeptidase 1
severity
ISO
DNA:insertion:promoter:g.-1607insG (human) protein:increased expression:urine (human)
RGD
PMID:17986285 , PMID:11705862
RGD:7207077 , RGD:7207140
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp13
matrix metallopeptidase 13
ISO
urinary bladder transitional-cell carcinomas
RGD
PMID:11054671
RGD:2293609
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30548095 , PMID:17466450
RGD:2290395
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30548095 , PMID:17466450
RGD:2290395
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729580
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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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 ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:28492532 , PMID:18638378
RGD:2317733
NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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Msh2
mutS homolog 2
disease_progression
ISO
DNA:mutation protein:decreased expression:urinary bladder
RGD
PMID:18389386 , PMID:18254781
RGD:2293502 , RGD:2293503
NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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Msh6
mutS homolog 6
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18254781
RGD:2293503
NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
DNA:deletion: :(human)
RGD
PMID:15254717
RGD:2302294
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-cyb
mitochondrially encoded cytochrome b
ISO
DNA:deletion:cds
RGD
PMID:18245469
RGD:2298953
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:deletion: :(human)
RGD
PMID:15254717
RGD:2302294
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16565513
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7729958 PMID:16565513
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Mt3
metallothionein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16854967
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism protein:missense mutation:cds:p.A222V (human) DNA:transversion:cds:g.1298A>C (human) DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
CTD
PMID:22747749 , PMID:22126575 , PMID:17311259 , PMID:19837268 , PMID:20146887
RGD:6893457 , RGD:6893597 , RGD:6893521 , RGD:6893516
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mtor
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:19261747
RGD:10040979
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:19837268
RGD:6893521
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum:
RGD
PMID:10468735
RGD:7245967
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:repeats
RGD
PMID:19191526
RGD:7349339
NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
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Myc
MYC proto-oncogene, bHLH transcription factor
susceptibility disease_progression
ISO
DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:urinary bladder urothelium (human)
CTD
PMID:2228319 , PMID:23284801 , PMID:20939013 , PMID:22028816
RGD:7207401 , RGD:7207427 , RGD:7207418
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nat1
N-acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16003747
NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
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Nat2
N-acetyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10022756 PMID:15717312 PMID:18505952 PMID:20972438 PMID:24221535 , PMID:16327307
RGD:8552670
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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Ncan
neurocan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:21,050,243...21,076,707
Ensembl chr16:21,050,243...21,076,707
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Ncor1
nuclear receptor co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
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Ncstn
nicastrin
ISS
OMIM:109800
MouseDO
NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29321541
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
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Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
RGD
PMID:17726579
RGD:2302550
NCBI chr 8:79,323,408...79,408,842
Ensembl chr 8:79,323,408...79,408,833
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:7614395
RGD:2299071
NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:7614395
RGD:2299071
NCBI chr10:81,648,216...81,653,717
Ensembl chr10:81,648,216...81,653,717
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:10475345
RGD:2292089
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603 , PMID:21213404
RGD:10401939
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Nrsn1
neurensin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr17:41,798,767...41,816,346
Ensembl chr17:41,798,783...41,817,101
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Olr1105
olfactory receptor 1105
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 7:139,951,184...139,959,830
Ensembl chr 7:139,953,082...139,953,999
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783786
NCBI chr 7:75,409,581...75,421,874
Ensembl chr 7:75,409,581...75,422,268
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Phb
prohibitin
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:8062216
RGD:2292407
NCBI chr10:83,476,107...83,488,878
Ensembl chr10:83,476,107...83,488,878
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Plau
plasminogen activator, urokinase
treatment
IDA ISO
protein:increased expression:urinary bladder (human) DNA:snp:3' utr:g.4065C>T (human)
RGD
PMID:19010488 , PMID:18336603 , PMID:16825821
RGD:4144867 , RGD:7241213 , RGD:7241144
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Plk1
polo-like kinase 1
severity
ISO
RGD
PMID:16837776 , PMID:15761500
RGD:2299938 , RGD:2299940
NCBI chr 1:192,115,990...192,125,969
Ensembl chr 1:192,115,966...192,125,989
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Pmf1
polyamine-modulated factor 1
disease_progression
ISO
RGD
PMID:19088041
RGD:30296651
NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
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Pms2
PMS1 homolog 2, mismatch repair system component
susceptibility
ISO
DNA:SNP: :rs6463524 (human)
RGD
PMID:19692168
RGD:2315025
NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
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Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr16:74,237,001...74,260,272
Ensembl chr16:74,237,001...74,260,271
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
protein:decreased expression:urinary bladder
RGD
PMID:18712722
RGD:2301870
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29275364
NCBI chr15:51,896,427...51,968,075
Ensembl chr15:51,896,615...51,967,897
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Prdm2
PR/SET domain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:161,769,587...161,879,150
Ensembl chr 5:161,770,653...161,879,133
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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:16008942 , PMID:15922420
RGD:2292455 , RGD:2298669
NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
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Prss3
serine protease 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15987713
NCBI chr 4:70,614,524...70,617,998
Ensembl chr 4:70,614,524...70,617,998
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19648920 PMID:20083643
NCBI chr 7:116,090,189...116,091,955
Ensembl chr 7:116,090,189...116,091,955
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Psmb2
proteasome 20S subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:144,702,004...144,734,220
Ensembl chr 5:144,701,949...144,734,257
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Pten
phosphatase and tensin homolog
disease_progression
ISO ISS
DNA:mutations: :multiple OMIM:109800 protein:decreased expression:urinary bladder
MouseDO
PMID:9671402 , PMID:18190825
RGD:2292515 , RGD:2291891
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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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)
CTD
PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 PMID:17093206 PMID:29396848 , PMID:18222600 , PMID:21255800 , PMID:18381966
RGD:2300200 , RGD:5508302 , RGD:2300127
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Ralbp1
ralA binding protein 1
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:17606711
RGD:2324917
NCBI chr 9:113,579,107...113,598,477
Ensembl chr 9:113,579,107...113,598,480
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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 3:12,182,722...12,415,081
Ensembl chr 3:12,178,853...12,415,073
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Rassf1
Ras association domain family member 1
ISO
DNA:hypermethylation CTD Direct Evidence: marker/mechanism
CTD
PMID:15987713 , PMID:18702824 , PMID:12222680
RGD:2299860 , RGD:2291977
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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Rb1
RB transcriptional corepressor 1
disease_progression
ISO
ClinVar Annotator: match by term: Urinary bladder cancer ClinVar Annotator: match by term: Bladder cancer
ClinVar OMIM
PMID:1352883 PMID:2181449 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:15884040 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 , PMID:17026804
RGD:2299888
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
RGD
PMID:18188593 , PMID:18089718
RGD:2298753 , RGD:2293094
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Retn
resistin
ISO
protein:increased expression:urine
RGD
PMID:18373357
RGD:7207154
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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Rhoa
ras homolog family member A
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
CTD
PMID:19896475 , PMID:12855641
RGD:2298872
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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Rrm2
ribonucleotide reductase regulatory subunit M2
IEP
mRNA:increased expression:bladder (rat)
RGD
PMID:21139803
RGD:5133688
NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
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Runx3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:16230397
RGD:2302553
NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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S100a8
S100 calcium binding protein A8
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
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S100a9
S100 calcium binding protein A9
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
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S100b
S100 calcium binding protein B
IEP
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:17970044
RGD:2316906
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Serpine1
serpin family E member 1
ISO
RGD
PMID:19010488
RGD:4144867
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sfn
stratifin
disease_progression
ISO
RGD
PMID:18452837
RGD:2299928
NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
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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 chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Slc12a7
solute carrier family 12 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:32,086,755...32,167,950
Ensembl chr 1:32,086,755...32,141,036
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21760912
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Smad2
SMAD family member 2
ISO
RGD
PMID:15548366
RGD:2299964
NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
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Smad4
SMAD family member 4
ISO
protein:decreased expression:urinary bladder
RGD
PMID:11783019
RGD:2299972
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
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Smc1b
structural maintenance of chromosomes 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr 7:125,966,480...126,028,287
Ensembl chr 7:125,966,480...126,028,279
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Socs1
suppressor of cytokine signaling 1
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:16242928 , PMID:17522834
RGD:2298906 , RGD:2298903
NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729580 PMID:18930813 , PMID:17974967
RGD:7175539
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29396848
NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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Sox4
SRY-box transcription factor 4
ISO
RGD
PMID:16585165
RGD:1581304
NCBI chr17:37,615,022...37,619,728
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
RGD
PMID:11696817 , PMID:17149610
RGD:2300024 , RGD:2300021
NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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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 chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:21483670
RGD:6903265
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11723127 PMID:17093206
NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
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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 chr12:47,039,714...47,046,022
Ensembl chr12:47,039,716...47,046,022
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Stag2
stromal antigen 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121789 PMID:24121791 PMID:24121792
NCBI chr X:128,493,603...128,624,418
Ensembl chr X:128,493,614...128,624,418
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Sult1a1
sulfotransferase family 1A member 1
ISO
RGD
PMID:14643027
RGD:1581442
NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
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Tacc3
transforming, acidic coiled-coil containing protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr14:82,336,283...82,350,069
Ensembl chr14:82,336,324...82,347,679
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Terc
telomerase RNA component
disease_progression
ISO
RNA:increased expression:urinary bladder RNA:increased expression:urine
RGD
PMID:16104909 , PMID:17644139
RGD:2291967 , RGD:2291986
NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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Tert
telomerase reverse transcriptase
ISO
protein:increased expression:urine CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717 , PMID:17644139
RGD:2291986
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Tff1
trefoil factor 1
ISO
protein:increased expression:urinary bladder
RGD
PMID:18283638
RGD:2291996
NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
RGD
PMID:9363992
RGD:2302036
NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
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Thbs1
thrombospondin 1
severity
ISO
protein:decreased expression:bladder
RGD
PMID:20299037
RGD:13602099
NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
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Timp2
TIMP metallopeptidase inhibitor 2
disease_progression
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:30548095 , PMID:17374529 , PMID:17466450
RGD:2298521 , RGD:2290395
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:18082200
RGD:2290411
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Tlr2
toll-like receptor 2
ISO
DNA:deletion:promoter:−196_−174del (human)
RGD
PMID:23142523
RGD:7207893
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
treatment
ISO
RGD
PMID:19788935
RGD:7240556
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 chr 9:55,379,130...55,673,704
Ensembl chr 9:55,384,100...55,673,829
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1674182
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr15:51,433,853...51,464,215
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Top2a
DNA topoisomerase II alpha
disease_progression
ISO
RGD
PMID:19913893
RGD:2315121
NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
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Tp53
tumor protein p53
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
CTD
PMID:9610789 PMID:11376694 PMID:12376482 PMID:12706858 PMID:15906354 PMID:22929185 PMID:29644616 , PMID:18208803
RGD:2290536
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tp63
tumor protein p63
disease_progression
ISO
RGD
PMID:19690775
RGD:2315430
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Tp73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:10383132
RGD:2291836
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19502594
NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Bladder cancer ClinVar Annotator: match by term: Urinary 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: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:16981987 PMID:17304050 PMID:18032745 PMID:18397877 PMID:18772611 PMID:18830229 PMID:19139070 PMID:20547222 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21811971 PMID:22490766 PMID:22703879 PMID:22707517 PMID:22923433 PMID:23254740 PMID:23401075 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25741868 PMID:25889454 PMID:25900779 PMID:26231267 PMID:26332594 PMID:26467025 PMID:27425891 PMID:27494029 PMID:28492532 PMID:29221145
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Tymp
thymidine phosphorylase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11103787 PMID:15841086 , PMID:16937303
RGD:2293716
NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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Tyms
thymidylate synthetase
IDA
RGD
PMID:18463958
RGD:2317413
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
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Ube2i
ubiquitin-conjugating enzyme E2I
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) (human)
RGD
PMID:16407042
RGD:2301343
NCBI chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
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Ugt2b7
UDP glucuronosyltransferase family 2 member B7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15615884
NCBI chr14:22,597,103...22,619,968
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Usp7
ubiquitin specific peptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression:bladder
RGD
PMID:22895562
RGD:13605607
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:17094484
RGD:2315482
NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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Vegfd
vascular endothelial growth factor D
disease_progression
ISO
RGD
PMID:17970053
RGD:2315479
NCBI chr X:31,816,480...31,852,239
Ensembl chr X:31,816,436...31,851,715
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Vhl
von Hippel-Lindau tumor suppressor
IEP
mRNA:decreased expression:urinary bladder
RGD
PMID:19399409
RGD:2325183
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Vwa3a
von Willebrand factor A domain containing 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:190,679,722...190,742,444
Ensembl chr 1:190,681,094...190,742,444
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Wif1
Wnt inhibitory factor 1
disease_progression
ISO
protein:decreased expression:urinary bladder DNA:hypermethylation:promoter
RGD
PMID:14517837 , PMID:18325051
RGD:727214 , RGD:2291868
NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
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Wnt7b
Wnt family member 7B
ISO
superficial, NOT invasive
RGD
PMID:9461004
RGD:2299932
NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
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Xdh
xanthine dehydrogenase
ISO
protein:decreased activity:urinary bladder
RGD
PMID:20087949
RGD:7247647
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:polymorphism: :p.R399Q DNA:polymorphisms: :multiple
RGD
PMID:18765423 , PMID:17425776
RGD:2302568 , RGD:2302572
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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Yjefn3
YjeF N-terminal domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:21,282,355...21,288,656
Ensembl chr16:21,282,467...21,288,406
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Elane
elastase, neutrophil expressed
treatment
IMP
RGD
PMID:18165924
RGD:10450583
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Il5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Stat6
signal transducer and activator of transcription 6
severity
ISO
DNA:SNP:enhancer: (rs324013)
RGD
PMID:18273035
RGD:7243977
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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Afap1l2
actin filament associated protein 1-like 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr 1:277,730,760...277,827,299
Ensembl chr 1:277,730,760...277,827,269
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:11819209
RGD:6903866
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Agtr2
angiotensin II receptor, type 2
no_association
ISO
DNA:transition:intron:-1332A>G (human)
RGD
PMID:12187255 , PMID:11819209 , PMID:15470205
RGD:6903860 , RGD:6903866 , RGD:6903853
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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Csf1
colony stimulating factor 1
ISO
RGD
PMID:12110011
RGD:7257580
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23200959
RGD:7245478
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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Htr1a
5-hydroxytryptamine receptor 1A
ISS
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
MouseDO
NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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Ifng
interferon gamma
ISO
DNA:polymorphism: : 874T>A (human)
RGD
PMID:22906585
RGD:6893460
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:14760498
RGD:7242902
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:25741868
NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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Robo2
roundabout guidance receptor 2
ISO ISS
ClinVar Annotator: match by term: Vesicoureteral reflux OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
ClinVar MouseDO
NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
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Sox17
SRY-box transcription factor 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Vesico-Ureteral Reflux
CTD ClinVar
PMID:25741868
NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
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Upk3a
uroplakin 3A
ISS
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
MouseDO
NCBI chr 7:125,920,357...125,925,430
Ensembl chr 7:125,920,357...125,925,430
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Vwa2
von Willebrand factor A domain containing 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr 1:277,689,478...277,730,407
Ensembl chr 1:277,689,729...277,730,389
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 2
OMIM ClinVar
PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 PMID:23536131 PMID:25741868 PMID:27657687 PMID:28492532
NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
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Sox17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 3 ClinVar Annotator: match by OMIM:613674
OMIM ClinVar
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479
NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 8
OMIM ClinVar
PMID:23620400 PMID:27657687
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