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 RGD
PMID:17922784 PMID:22077972
RGD:5133442
NCBI chr 1:214,931,514...215,452,739
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FGF2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder
RGD
PMID:17763394
RGD:2315846
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2055425
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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NGF
nerve growth factor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:15448108
RGD:7242800
NCBI chr 1:87,223,597...87,276,759
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RASSF1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
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RGS2
regulator of G protein signaling 2
treatment
ISO
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
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RGS3
regulator of G protein signaling 3
treatment
ISO
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr 9:84,561,302...84,696,534
Ensembl chr 9:112,927,407...113,065,746
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RGS4
regulator of G protein signaling 4
treatment
ISO
associated with hypertension
RGD
PMID:19689474
RGD:9684972
NCBI chr 1:138,488,317...138,496,497
Ensembl chr 1:142,284,040...142,292,225
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SLC18A3
solute carrier family 18 member A3
ISO
associated with Spinal Cord Injuries;protein:decreased expression:axon terminus
RGD
PMID:17229408
RGD:5686699
NCBI chr10:44,630,006...44,632,419
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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VIP
vasoactive intestinal peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18299998
NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
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LCN2
lipocalin 2
disease_progression
ISO
associated with urinary tract infection;
RGD
PMID:25398327
RGD:126779559
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22232670
NCBI chr 7:17,949,254...17,998,737
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PMF1
polyamine modulated factor 1
disease_progression
ISO
RGD
PMID:22682992
RGD:30296649
NCBI chr 1:131,556,843...131,583,180
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EFEMP1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Diverticulum of bladder
ClinVar
PMID:25741868
NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
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CHRNA3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of
OMIM ClinVar
PMID:25741868 PMID:31708116
NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
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LZTR1
leucine zipper like transcription regulator 1
ISO
ClinVar Annotator: match by term: Bladder exstrophy
ClinVar
PMID:28492532
NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
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ADRA1A
adrenoceptor alpha 1A
ISO
RGD
PMID:20886573
RGD:5688368
NCBI chr 8:25,947,996...26,138,022
Ensembl chr 8:22,853,677...23,044,388
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COL1A1
collagen type I alpha 1 chain
treatment
ISO
RGD
PMID:23313213
RGD:7257549
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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COL3A1
collagen type III alpha 1 chain
treatment
ISO
RGD
PMID:23313213
RGD:7257549
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:21356374
RGD:7257709
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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ELN
elastin
treatment
ISO
RGD
PMID:23313213
RGD:7257549
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:urinary bladder (rat)
RGD
PMID:12118092
RGD:9068887
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:23344575
RGD:7257660
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
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MMP7
matrix metallopeptidase 7
treatment
ISO
RGD
PMID:23313213
RGD:7257549
NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
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NGF
nerve growth factor
treatment
ISO
RGD
PMID:22795377
RGD:7242774
NCBI chr 1:87,223,597...87,276,759
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NOS3
nitric oxide synthase 3
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:21256554
RGD:4891960
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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OPTN
optineurin
ISO
protein:increased expression:urinary bladder:
RGD
PMID:16361812
RGD:7775024
NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15311063
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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SOD2
superoxide dismutase 2
ISO
RGD
PMID:21060756
RGD:7175518
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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PTEN
phosphatase and tensin homolog
disease_progression
ISO
associated with schistosomiasis;protein:decreased expression:urothelium (human)
RGD
PMID:26916953
RGD:127285612
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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ACTL7A
actin like 7A
ISO
RGD
PMID:29058301
RGD:13831338
NCBI chr 9:80,014,898...80,016,379
Ensembl chr 9:108,188,166...108,189,473
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FGFR3
fibroblast growth factor receptor 3
severity
ISO
protein:increased expression:urothelial cells (human)
RGD
PMID:28507621
RGD:38500205
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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KDM6A
lysine demethylase 6A
susceptibility
ISO
associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human)
RGD
PMID:30352907
RGD:150429735
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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ACE
angiotensin I converting enzyme
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:34906502
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACTG1
actin gamma 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:30143558
NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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BICC1
BicC family RNA binding protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
NCBI chr10:55,044,812...55,366,668
Ensembl chr10:57,264,973...57,583,404
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BMP4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNPs: :rs2071047,rs17563(human)
RGD
PMID:24131739
RGD:13442498
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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BMP7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
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CDC5L
cell division cycle 5 like
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 6:43,983,840...44,043,029
Ensembl chr 6:45,265,845...45,326,383
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CHD1L
chromodomain helicase DNA binding protein 1 like
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219
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COL4A1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:31230195
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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CTU2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
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DHX8
DEAH-box helicase 8
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr17:13,870,392...13,913,290
Ensembl chr17:14,117,231...14,159,773
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DNASE1
deoxyribonuclease 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr16:2,532,281...2,583,408
Ensembl chr16:3,708,189...3,758,615
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EMC1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:26942288 PMID:27657687
NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
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ETV4
ETS variant transcription factor 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr17:13,850,823...13,869,347
Ensembl chr17:14,099,160...14,116,186
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FAT4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558
NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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FOXC1
forkhead box C1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558 PMID:32475988
NCBI chr 6:1,429,051...1,433,180
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FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:18671281 PMID:25741868 PMID:30143558
NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
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FREM1
FRAS1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868
NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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FREM2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048
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GATA3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
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GDF6
growth differentiation factor 6
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436 More...
NCBI chr 8:92,767,401...92,785,955
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GREB1L
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:29100090 PMID:30143558
NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
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HNF1B
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 PMID:18644064 PMID:20155289 PMID:21380624 PMID:21775974 PMID:23539225 PMID:24387224 PMID:24429398 PMID:24897035 PMID:24961278 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26467025 PMID:28492532 PMID:30143558 PMID:33532864 More...
NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863
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HPSE2
heparanase 2 (inactive)
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:19669792 PMID:20560210 PMID:30143558
NCBI chr10:95,071,571...95,851,896
Ensembl chr10:98,592,019...99,344,132
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JAG1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:28492532
NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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KAT6B
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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LIFR
LIF receptor subunit alpha
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28334964 PMID:28492532
NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267
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LOC100983857
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:30143558
NCBI chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874
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NOTCH2
notch receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
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NPHP1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
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NPHP4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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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 PMID:30143558
NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
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OFD1
OFD1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:6,296,597...6,376,197
Ensembl chr X:13,611,304...13,664,512
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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POLR1C
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:27657687 PMID:28492532
NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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ROBO1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30692597
NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308
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ROBO2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the 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 More...
NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309
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SALL1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
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SIX2
SIX homeobox 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:27657687 PMID:28492532 PMID:32164334
NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035
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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 chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
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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 | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:26026792 PMID:30143558
NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
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TBX18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:26235987 PMID:30143558
NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799
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TBX6
T-box transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30578417
Ensembl chr16:30,460,305...30,467,070
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TRAP1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr16:2,578,483...2,637,996
Ensembl chr16:3,753,799...3,786,429
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TRPS1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:11112658 PMID:11950061 PMID:18946009 PMID:24502542 PMID:25792522 PMID:28492532 PMID:30143558 PMID:30541476 More...
NCBI chr 8:112,079,147...112,339,567
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ZMYM2
zinc finger MYM-type containing 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:32891193
NCBI chr13:1,281,220...1,411,390
Ensembl chr13:19,599,221...19,727,913
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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
OMIM ClinVar
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 More...
NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041
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SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1
ClinVar
PMID:25741868 PMID:26026792 PMID:30143558
NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
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UPK3A
uroplakin 3A
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:15888565 PMID:16731295
NCBI chr22:26,170,186...26,182,100
Ensembl chr22:44,351,511...44,362,863
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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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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TBX18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction
OMIM ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799
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TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419
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NRIP1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3
OMIM ClinVar
PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558
NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
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MYOCD
myocardin
ISO
ClinVar Annotator: match by term: Megabladder, congenital
OMIM ClinVar
PMID:25741868 PMID:31513549
NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
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CENPF
centromere protein F
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:25741868
NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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CEP89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:21681106
NCBI chr19:29,790,653...29,895,083
Ensembl chr19:38,547,861...38,638,785
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PREPL
prolyl endopeptidase like
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11748844 PMID:12820697 PMID:14531788 PMID:15635077 PMID:16374432 PMID:19782624 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25109415 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 PMID:30773290 PMID:32133030 More...
NCBI chr2A:44,417,735...44,463,542
Ensembl chr2A:45,353,326...45,397,903
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SLC3A1
solute carrier family 3 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria DNA:missense mutations
OMIM ClinVar RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10464673 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14561219 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 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:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843 PMID:30773290 PMID:32133030 PMID:33532864 More...
RGD:1600015
NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386
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SLC7A9
solute carrier family 7 member 9
ISO
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
OMIM ClinVar
PMID:6031738 PMID:9536098 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:16199547 PMID:16225397 PMID:16374432 PMID:16834950 PMID:16838140 PMID:17539912 PMID:17576681 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:33532864 More...
NCBI chr19:29,753,265...29,793,871
Ensembl chr19:38,499,106...38,538,750
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
mRNA:increased expression:urinary bladder urothelium
RGD
PMID:18563302
RGD:2315964
NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749
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ADCYAP1R1
ADCYAP receptor type I
ISO
mRNA:increased expression:urothelium, detrusor muscle (rat)
RGD
PMID:18563302
RGD:2315964
NCBI chr 7:31,597,251...31,724,299
Ensembl chr 7:31,784,622...31,843,381
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BDNF
brain derived neurotrophic factor
ISO
RGD
PMID:9631447 PMID:20079809
RGD:5684910 RGD:8657090
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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CAT
catalase
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CSF3
colony stimulating factor 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:urinary bladder urothelium
RGD
PMID:16651033
RGD:4891972
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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ESR2
estrogen receptor 2
ISO
protein:decreased expression:bladder
RGD
PMID:16894621
RGD:5508847
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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IL11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr19:52,407,730...52,426,445
Ensembl chr19:61,096,275...61,101,837
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IL18
interleukin 18
ISO
protein:increased expression:urine, bladder
RGD
PMID:18848347
RGD:2317284
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1B
interleukin 1 beta
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:11948286 PMID:23000860
RGD:6907118 RGD:7175333
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL2
interleukin 2
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL4
interleukin 4
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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KDR
kinase insert domain receptor
ISO
RGD
PMID:21412823
RGD:5684428
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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LTA
lymphotoxin alpha
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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MIF
macrophage migration inhibitory factor
ISO
mRNA, protein:increased expression:nervous system
RGD
PMID:12853844 PMID:19066630
RGD:1642002 RGD:4890977
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
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MPO
myeloperoxidase
ISO
protein:increased activity:bladder
RGD
PMID:19418724
RGD:7174704
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17659847
RGD:7349345
NCBI chr11:1,191,223...1,234,373
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NGF
nerve growth factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11350415 PMID:16889433 PMID:19996110 PMID:20127836
RGD:7242782 RGD:7242802 RGD:7242808
NCBI chr 1:87,223,597...87,276,759
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NGFR
nerve growth factor receptor
ISO
protein, mRNA:increased expression:lumbosacral dorsal root ganglia
RGD
PMID:18189308
RGD:5508447
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
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PDCD1
programmed cell death 1
ISO
RGD
PMID:22432050
RGD:7248677
NCBI chr2B:129,111,509...129,121,127
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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PTGER4
prostaglandin E receptor 4
ISO
RGD
PMID:20860016
RGD:5147913
NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20602232
RGD:5135058
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099998
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SOD1
superoxide dismutase 1
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr21:18,029,831...18,037,526
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SOD2
superoxide dismutase 2
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:26109091
RGD:11035303
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:17382773
RGD:2304340
NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018
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TLR5
toll like receptor 5
severity
ISO
DNA:nonsense mutation:cds:p.R392X (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343
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TNF
tumor necrosis factor
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11948286
RGD:6907118
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
protein:increased expression:nuclei:
RGD
PMID:20879002
RGD:10053565
NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
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BAD
BCL2 associated agonist of cell death
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23129268
RGD:10053664
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
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RGS2
regulator of G protein signaling 2
ISO
RGD
PMID:18372098
RGD:13524574
NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
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GSR
glutathione-disulfide reductase
ISO
protein:increased activity:urinary bladder:
RGD
PMID:19107871
RGD:7257548
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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CAMKMT
calmodulin-lysine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747
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PPM1B
protein phosphatase, Mg2+/Mn2+ dependent 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr2A:44,254,168...44,325,132
Ensembl chr2A:45,230,001...45,262,587
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PREPL
prolyl endopeptidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr2A:44,417,735...44,463,542
Ensembl chr2A:45,353,326...45,397,903
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SLC3A1
solute carrier family 3 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386
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ADRB2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:cds:p.R16G (human)
RGD
PMID:12442007
RGD:7175285
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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CRP
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr 1:135,062,102...135,064,402
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CSF1
colony stimulating factor 1
treatment
ISO
RGD
PMID:22441309
RGD:7241234
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:urine
RGD
PMID:18848347
RGD:2317284
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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CXCL10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCL11
C-X-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 4:48,169,954...48,172,455
Ensembl chr 4:54,007,818...54,010,336
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CXCL9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18957084
NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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ESR2
estrogen receptor 2
ISO
RGD
PMID:17522255
RGD:7364800
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21166752
RGD:6483539
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22738385
RGD:7245526
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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NGF
nerve growth factor
treatment
ISO
protein:increased expression:serum, urine
RGD
PMID:18162370 PMID:20227820 PMID:23028581
RGD:7242773 RGD:7242781 RGD:7242805
NCBI chr 1:87,223,597...87,276,759
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:bladder
RGD
PMID:21179332
RGD:4891153
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:16622179
RGD:7245525
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:bladder, urine
RGD
PMID:22441309
RGD:7241234
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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CHRM2
cholinergic receptor muscarinic 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20624991
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
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CLCN6
chloride voltage-gated channel 6
ISO
ClinVar Annotator: match by term: Neurogenic bladder
ClinVar
PMID:25741868 PMID:33217309
NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
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EBF3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Neurogenic bladder
ClinVar
PMID:28017373 PMID:32366537 PMID:33956416
NCBI chr10:126,432,326...126,561,328
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NGF
nerve growth factor
treatment
ISO
associated with Spinal Cord Injuries associated with Meningomyelocele;protein:increased expression:urine
RGD
PMID:22220508 PMID:23301927
RGD:7242771 RGD:7242776
NCBI chr 1:87,223,597...87,276,759
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16322346
NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:15576455
RGD:1625040
NCBI chr14:76,885,923...76,894,456
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CD40LG
CD40 ligand
ISO
protein:increased expression:urine
RGD
PMID:19784793
RGD:7248423
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CRP
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21284020
RGD:6907432
NCBI chr 1:135,062,102...135,064,402
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15371886
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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GJA1
gap junction protein alpha 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17855776
RGD:7207474
NCBI chr 6:119,213,513...119,227,617
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GJA5
gap junction protein alpha 5
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17855776
RGD:7207474
NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
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NGF
nerve growth factor
treatment
ISO
associated with Cystitis protein:increased expression:serum associated with Hypertension CTD Direct Evidence: marker/mechanism associated with Cystitis;protein:increased expression:urine
RGD CTD
PMID:16600756 PMID:17050722 PMID:21605172 PMID:21717507 PMID:21826717 PMID:22473863 More...
RGD:7242775 RGD:7242778 RGD:7242779 RGD:7242780 RGD:7242798
NCBI chr 1:87,223,597...87,276,759
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
associated with Spinal Cord Injuries
RGD
PMID:28954467
RGD:13434913
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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NRG1
neuregulin 1
treatment
ISO
RGD
PMID:24152577
RGD:10449030
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
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PENK
proenkephalin
treatment
ISO
RGD
PMID:23316929
RGD:10003040
NCBI chr 8:52,864,388...52,870,144
Ensembl chr 8:50,234,170...50,239,949
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TRPA1
transient receptor potential cation channel subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:21367919 PMID:23523557
RGD:10043365
NCBI chr 8:68,551,685...68,605,336
Ensembl chr 8:70,210,352...70,262,627
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome
OMIM ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9536098 PMID:9760197 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:17576681 PMID:20221250 PMID:21654726 PMID:22213154 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25640679 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28166811 PMID:28492532 PMID:29054766 PMID:29973660 PMID:30076350 PMID:30773290 PMID:31001663 PMID:31060108 PMID:31576025 PMID:31692565 PMID:33532864 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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ACHE
acetylcholinesterase (Cartwright blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29644616
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:urinary bladder
RGD
PMID:18190825
RGD:2291891
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:urinary bladder
RGD
PMID:14532840
RGD:2315608
NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
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AMACR
alpha-methylacyl-CoA racemase
severity
ISO
RGD
PMID:18648853
RGD:2315629
NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
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AMFR
autocrine motility factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9241080
NCBI chr16:36,647,792...36,711,782
Ensembl chr16:55,780,633...55,843,744
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ANG
angiogenin
ISO
protein:increased expression:urine protein:increased expression:plasma
RGD
PMID:15329320 PMID:15912517
RGD:2325700 RGD:2325704
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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ANKFY1
ankyrin repeat and FYVE domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr17:4,217,880...4,316,017
Ensembl chr17:4,209,250...4,307,328
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ANPEP
alanyl aminopeptidase, membrane
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
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ANXA2R
annexin A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:67,335,346...67,338,556
Ensembl chr 5:72,383,027...72,383,608
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
RGD
PMID:19041121
RGD:2315660
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23852168 PMID:27643540
NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265
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AQP3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
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AREG
amphiregulin
disease_progression
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:11133810 PMID:11507076
RGD:2292661 RGD:2292662
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
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ARID1A
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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AS3MT
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094
NCBI chr10:99,470,026...99,502,829
Ensembl chr10:102,933,671...102,964,692
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ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 8:126,688,608...127,080,662
Ensembl chr 8:129,418,796...130,021,261
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ASXL2
ASXL transcriptional regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr2A:25,730,155...25,880,089
Ensembl chr2A:25,832,527...25,973,659
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ATM
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATP5F1D
ATP synthase F1 subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
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ATP5MC2
ATP synthase membrane subunit c locus 2
ISO
DNA:hypermethylation:promoter
RGD
PMID:26929985
RGD:14696811
NCBI chr12:35,078,290...35,089,480
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AURKA
aurora kinase A
disease_progression
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:18485461
RGD:2293871
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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AXIN1
axin 1
susceptibility
ISO
DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human)
RGD
PMID:31143301
RGD:150527861
Ensembl chr16:278,239...337,891
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BAP1
BRCA1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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BAX
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:18452128
RGD:2296023
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCL2
BCL2 apoptosis regulator
severity
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410 PMID:18342927
RGD:2292910 RGD:2293014
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BCL2L1
BCL2 like 1
disease_progression
ISO
RGD
PMID:18342927
RGD:2292910
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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BIRC3
baculoviral IAP repeat containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12926068
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:urinary bladder
RGD
PMID:17905101 PMID:18089718
RGD:2293094 RGD:2293096
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BPTF
bromodomain PHD finger transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410
RGD:2293014
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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CA9
carbonic anhydrase 9
disease_progression
ISO
RGD
PMID:14520462
RGD:2293197
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CALHM1
calcium homeostasis modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr10:100,048,560...100,056,483
Ensembl chr10:103,511,873...103,517,376
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CASP3
caspase 3
disease_progression
ISO
RGD
PMID:17267327
RGD:2298949
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASP9
caspase 9
susceptibility disease_progression
ISO
DNA:polymorphism, deletion: :1263A>G, 293del (human) DNA:SNP:exon:p.Q221R (rs1052576) (human)
RGD
PMID:19252927 PMID:19412632
RGD:2315929 RGD:2315930
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAV1
caveolin 1
severity
ISO
protein:increased expression:urinary bladder
RGD
PMID:12866378
RGD:2289110
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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CBX7
chromobox 7
severity
ISO
mRNA:decreased expression:urinary bladder (human)
RGD
PMID:18984978
RGD:9587361
NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
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CCND1
cyclin D1
ISO
protein:increased expression:bladder
RGD
PMID:12372886
RGD:13602096
NCBI chr11:64,737,006...64,750,353
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CCND3
cyclin D3
disease_progression
ISO
RGD
PMID:16482499
RGD:2316012
NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498
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CCNE1
cyclin E1
disease_progression severity
ISO
protein:decreased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16739882 PMID:18047954 PMID:20972438 PMID:27514407
RGD:2289267 RGD:2296035
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CCNG1
cyclin G1
ISO
mRNA:decreased expression:bladder (human)
RGD
PMID:27982046
RGD:151361200
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:16361570
RGD:7248437
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD44
CD44 molecule (Indian blood group)
ISO
RGD
PMID:16321281
RGD:2289357
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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CD82
CD82 molecule
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:14706010 PMID:17290345
RGD:2289391 RGD:2289401
NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
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CD9
CD9 molecule
disease_progression
ISO
RGD
PMID:14534881
RGD:2326207
NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385
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CDC25A
cell division cycle 25A
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
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CDC25B
cell division cycle 25B
disease_progression
ISO
RGD
PMID:19383904
RGD:2739695
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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CDH1
cadherin 1
disease_progression
ISO
protein:decreased expression:urinary bladder Protein:increased expression:cytoplasm CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17167984 PMID:17520682 PMID:17760743 PMID:26901067
RGD:1599549 RGD:2289491
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDH13
cadherin 13
ISO
DNA:hypermethylation:promoter
RGD
PMID:18094410
RGD:2293014
NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
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CDK1
cyclin dependent kinase 1
ISO
RGD
PMID:17145867
RGD:2715645
NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
DNA:amplification protein:increased expression:urinary bladder
RGD
PMID:11971182 PMID:16896691
RGD:2289144 RGD:2299056
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18640142
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CDKN1B
cyclin dependent kinase inhibitor 1B
disease_progression susceptibility
ISO
RGD
PMID:18027869 PMID:18334837
RGD:2293592 RGD:2293595
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
DNA:hypermethylation:promoter protein:increased expression:urinary bladder DNA:deletion CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:12973940 PMID:15897688 PMID:15987713 PMID:17119258 PMID:18234280
RGD:2289687 RGD:2296048 RGD:2296052
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion DNA:deletion:urinary bladder
RGD
PMID:15590562 PMID:16624482
RGD:2289696 RGD:7248757
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CHD6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr20:37,744,012...37,953,593
Ensembl chr20:38,839,685...38,999,501
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CHEK2
checkpoint kinase 2
susceptibility treatment
ISO
DNA:mutations: :multiple
RGD
PMID:17918154 PMID:21396995
RGD:10401655 RGD:2289704
NCBI chr22:9,757,038...9,811,171
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CLPTM1L
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 5:1,609,455...1,638,325
Ensembl chr 5:1,361,571...1,388,415
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COMT
catechol-O-methyltransferase
ISO
protein:increased expression:urinary bladder, urine
RGD
PMID:15596044
RGD:2289726
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
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CREBBP
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7525883 PMID:17515069
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CTNNA1
catenin alpha 1
disease_progression
ISO
RGD
PMID:17760743
RGD:2289491
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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CTNNB1
catenin beta 1
disease_progression
ISO
RGD
PMID:17175927
RGD:2289829
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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CTSB
cathepsin B
ISO
protein:increased activity:transitional cell carcinoma (human)
RGD
PMID:15183956
RGD:2315615
NCBI chr 8:7,333,498...7,359,264
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22015448
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CXCR2
C-X-C motif chemokine receptor 2
ISO
DNA:SNP
RGD
PMID:19252927
RGD:2315930
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:17406000
RGD:7257712
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
no_association
ISO
DNA:polymorphisms: :3801T>C (human) DNA:polymorphism: :2455A>G (human)
RGD
PMID:18200441 PMID:18979064 PMID:21990318
RGD:7257730 RGD:7257733 RGD:7257736
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
RGD
PMID:21990318
RGD:7257730
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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CYP2C9
cytochrome P450 family 2 subfamily C member 9
ISO
RGD
PMID:16985032
RGD:6903918
NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653
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CYP4B1
cytochrome P450 family 4 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18713828
NCBI chr 1:46,107,787...46,127,162
Ensembl chr 1:47,462,178...47,481,502
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DAPK1
death associated protein kinase 1
ISO
DNA:hypermethylation
RGD
PMID:12124340
RGD:734875
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression
RGD
PMID:14634451
RGD:2301220
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DUSP1
dual specificity phosphatase 1
disease_progression
ISO
RGD
PMID:17690186
RGD:2298694
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
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E2F1
E2F transcription factor 1
disease_progression
ISO
mRNA:increased expression:bladder
RGD
PMID:20421545
RGD:13602004
NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
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EEF1E1
eukaryotic translation elongation factor 1 epsilon 1
disease_progression
ISO
protein:decreased expression:urothelium:
RGD
PMID:24917520
RGD:10401219
NCBI chr 6:7,911,807...7,940,918
Ensembl chr 6:8,192,997...8,222,056
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EGFR
epidermal growth factor receptor
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11723127 PMID:16685269 PMID:18006009 PMID:23523951
RGD:2289943 RGD:2298502
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ENO2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17951193 PMID:22613180
RGD:2293738
NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
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EOMES
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 3:27,601,829...27,608,701
Ensembl chr 3:27,925,086...27,930,274
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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EPHX1
epoxide hydrolase 1
disease_progression
ISO
DNA:SNPs
RGD
PMID:19252927
RGD:2315930
NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16685269 PMID:16771730 PMID:34291863
RGD:2289934 RGD:2298502
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:16685269
RGD:2298502
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:16685269 PMID:18006009
RGD:2289943 RGD:2298502
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24121791 PMID:25316812 PMID:27111033
RGD:11252208
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062074
NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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ESPL1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr12:35,460,500...35,486,794
Ensembl chr12:36,241,533...36,266,101
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16712894
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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ESR2
estrogen receptor 2
severity
ISO
protein:increased expression:urinary bladder urothelium (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16700038 PMID:23612777
RGD:7364758
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:21539681
RGD:126781700
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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F2
coagulation factor II, thrombin
severity
ISO
protein:increased expression:urine
RGD
PMID:22236518
RGD:6893573
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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FANCA
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19237606 PMID:24121791
RGD:11344902
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphisms:promoter:-1377G>A,-670A>G CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9070496 PMID:16538171
RGD:2290063
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
susceptibility
ISO
DNA:polymorphisms:promoter:-844T>C
RGD
PMID:16538171
RGD:2290063
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FBXW8
F-box and WD repeat domain containing 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr12:114,487,476...114,607,384
Ensembl chr12:117,863,254...117,983,269
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FERMT2
FERM domain containing kindlin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21624607
NCBI chr14:33,453,983...33,547,721
Ensembl chr14:51,737,188...51,829,766
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FGF1
fibroblast growth factor 1
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:11908679
RGD:2290291
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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FGFR2
fibroblast growth factor receptor 2
ISO
DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R
RGD
PMID:10602477 PMID:16969861
RGD:2289664 RGD:2301193
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FGFR3
fibroblast growth factor receptor 3
severity disease_progression
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer DNA:mutations protein:increased expression:urinary bladder
OMIM ClinVar RGD
PMID:1908846 PMID: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:18072261 PMID:18166262 PMID:18231634 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20453470 PMID:21510009 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 More...
RGD:2301223 RGD:2301224 RGD:2301225
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
associated with Schistosomiasis;DNA:hypermethylation:urinary bladder DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival protein:decreased expression:urinary bladder
RGD
PMID:11751381 PMID:15154012 PMID:15591090
RGD:2289897 RGD:2301232 RGD:2301233
NCBI chr 3:59,670,777...61,177,974
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FN1
fibronectin 1
ISO
protein:increased expression:urine
RGD
PMID:20012564
RGD:7205680
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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GGH
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19815704
NCBI chr 8:59,547,821...59,571,523
Ensembl chr 8:61,222,194...61,246,252
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GLI1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179202
NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
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GPX1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15247771
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GSTM1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: : (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18505952 PMID:18544563 PMID:20972438
RGD:6906879
Ensembl chr 1:127,979,238...128,010,411
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GSTO2
glutathione S-transferase omega 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr10:100,868,109...100,901,013
Ensembl chr10:104,326,175...104,357,604
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GSTP1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:urinary bladder
CTD RGD
PMID:7729958 PMID:9111193 PMID:12500666 PMID:18544563 PMID:21213404 PMID:22306368 More...
RGD:10401939 RGD:6906879 RGD:6906883
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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GSTZ1
glutathione S-transferase zeta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22306368
NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530
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HDAC4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21507255
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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HK1
hexokinase 1
treatment
ISO
RGD
PMID:23893687
RGD:11353960
NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
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HMBS
hydroxymethylbilane synthase
ISO
urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008)
RGD
PMID:16600798
RGD:2301681
NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
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HMGB3
high mobility group box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639441
NCBI chr X:140,632,163...140,639,774
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HMGN5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:70,180,585...70,268,545
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HOXA9
homeobox A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984
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HRAS
HRas proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
OMIM ClinVar RGD
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID: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:19762144 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 More...
RGD:2314833
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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HSPA1A
heat shock protein family A (Hsp70) member 1A
treatment
ISO
RGD
PMID:19914824
RGD:7242743
NCBI chr 6:31,476,710...31,491,411
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2297754
NCBI chr 9:20,884,742...20,886,317
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IFNG
interferon gamma
treatment
ISO
protein:decreased expression:serum
RGD
PMID:11219496 PMID:22906662
RGD:6893349 RGD:8157619
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19415693
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12544349 PMID:21347663
RGD:2290028
NCBI chr 7:46,564,234...46,573,145
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IGFBP5
insulin like growth factor binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr2B:103,932,983...103,956,475
Ensembl chr2B:222,534,967...222,558,432
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IGSF21
immunoglobin superfamily member 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:17,063,522...17,336,389
Ensembl chr 1:18,116,451...18,387,611
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IL1B
interleukin 1 beta
disease_progression
ISO
mRNA:increased expression:urinary bladder tumor (human)
RGD
PMID:21308147
RGD:7175327
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL2
interleukin 2
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1949363 PMID:3262172 PMID:3495671
RGD:8663471
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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INPP4B
inositol polyphosphate-4-phosphatase type II B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr 4:134,405,934...135,213,851
Ensembl chr 4:145,706,307...146,141,029
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ISL1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26332997
NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
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JUP
junction plakoglobin
disease_progression severity
ISO
protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001) DNA, protein:mutations, increased expression:urinary bladder protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)
RGD
PMID:9783980 PMID:11585741 PMID:17363521
RGD:2289818 RGD:2291880 RGD:2301748
NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
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KDM4A
lysine demethylase 4A
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:23603248
RGD:9587435
NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
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KDM4B
lysine demethylase 4B
ISO
mRNA, protein:increased expression:urinary bladder (human)
RGD
PMID:21930796
RGD:9587740
NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113
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KDM5B
lysine demethylase 5B
ISO
mRNA:increased expression:urinary bladder (human)
RGD
PMID:20226085
RGD:9587778
NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
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KDM6A
lysine demethylase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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KDR
kinase insert domain receptor
severity
ISO
protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119)
RGD
PMID:12215294 PMID:12940780
RGD:2291949 RGD:2301758
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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KISS1
KiSS-1 metastasis suppressor
ISO
mRNA:decreased expression:tumor:loss of expression in all invasive tumors vs normal urothelium, ecpression also associated with histological stage and overall survival
RGD
PMID:12547718
RGD:2292136
NCBI chr 1:179,792,116...179,800,377
Ensembl chr 1:184,080,570...184,104,815
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining)
RGD
PMID:15502806
RGD:2292430
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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KLF5
Kruppel like factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27514407
NCBI chr13:54,287,578...54,310,216
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KMT2A
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr11:113,273,198...113,364,404
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KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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KMT2D
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic
OMIM ClinVar
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 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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KRT16
keratin 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20186695
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
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KRT5
keratin 5
ISO
RGD
PMID:7507402
RGD:1600196
NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
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LAMA2
laminin subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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LIG1
DNA ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr19:45,056,737...45,110,867
Ensembl chr19:53,706,778...53,761,088
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LOC100972354
interferon alpha-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17172406
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
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LOC100976787
mismatch repair endonuclease PMS2
susceptibility
ISO
DNA:SNP: :rs6463524 (human)
RGD
PMID:19692168
RGD:2315025
NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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LOC100986475
metallothionein-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7729958 PMID:16565513
NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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LOC100990437
NADPH--cytochrome P450 reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530
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LOC100991079
interleukin-1 receptor antagonist protein
susceptibility
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) DNA:repeats:intron:IVS2+914_1000dup multiple (human)
RGD
PMID:16698387 PMID:19489682
RGD:6907081 RGD:6907367
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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LOXL1
lysyl oxidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr15:52,835,675...52,861,324
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LOXL4
lysyl oxidase like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456585
NCBI chr10:94,861,187...94,881,784
Ensembl chr10:98,357,322...98,372,691
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID: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 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
RGD
PMID:15665277
RGD:2306057
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
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MAPK15
mitogen-activated protein kinase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 8:140,468,365...140,474,604
Ensembl chr 8:143,481,567...143,492,859
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MDM2
MDM2 proto-oncogene
severity
ISO
mRNA:increased expression:bladder
RGD
PMID:27798881
RGD:13602098
NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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MGMT
O-6-methylguanine-DNA methyltransferase
susceptibility
ISO
DNA:polymorphisms:cds:p.L53L, p.L84F (human)
RGD
PMID:15885889
RGD:2317672
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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MKI67
marker of proliferation Ki-67
ISO
protein:increased expression:urinary bladder
RGD
PMID:20367636
RGD:2317708
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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MLH1
mutL homolog 1
disease_progression
ISO
RGD
PMID:15296997
RGD:2293518
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP1
matrix metallopeptidase 1
severity
ISO
protein:increased expression:urine (human) DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:11705862 PMID:17986285
RGD:7207077 RGD:7207140
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP13
matrix metallopeptidase 13
ISO
urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors
RGD
PMID:11054671
RGD:2293609
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17466450 PMID:30548095
RGD:2290395
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17466450 PMID:30548095
RGD:2290395
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729580
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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MRE11
MRE11 homolog, double strand break repair nuclease
susceptibility
ISO
DNA:snp:3' utr:c.2501A>G rs2155209 (human) ClinVar Annotator: match by term: Malignant tumor of urinary bladder
RGD ClinVar
PMID:18638378 PMID:28492532
RGD:2317733
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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MSH2
mutS homolog 2
disease_progression
ISO
protein:decreased expression:urinary bladder associated with Lynch syndrome DNA:mutations: :multiple
RGD
PMID:18254781 PMID:18389386 PMID:22883484 PMID:26385421
RGD:126790557 RGD:126790580 RGD:2293502 RGD:2293503
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MSH6
mutS homolog 6
disease_progression
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18254781
RGD:2293503
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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MT3
metallothionein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16854967
NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093
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MTHFR
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transversion:cds:g.1298A>C (human) DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) protein:missense mutation:cds:p.A222V (human) DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17311259 PMID:19837268 PMID:20146887 PMID:22126575 PMID:22747749
RGD:6893457 RGD:6893516 RGD:6893521 RGD:6893597
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:19261747
RGD:10040979
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:19837268
RGD:6893521
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum:
RGD
PMID:10468735
RGD:7245967
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
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MYC
MYC proto-oncogene, bHLH transcription factor
disease_progression susceptibility
ISO
protein:decreased expression:urinary bladder urothelium (human) CTD Direct Evidence: marker/mechanism DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human)
RGD CTD
PMID:2228319 PMID:20939013 PMID:22028816 PMID:23284801
RGD:7207401 RGD:7207418 RGD:7207427
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NAT1
N-acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16003747
NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462
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NAT2
N-acetyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10022756 PMID:15717312 PMID:16327307 PMID:18505952 PMID:20972438 PMID:24221535 More...
RGD:8552670
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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NCAN
neurocan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr19:18,650,522...18,690,882
Ensembl chr19:19,657,766...19,691,998
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NCOR1
nuclear receptor corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21822268
NCBI chr17:34,934,452...35,121,195
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NECTIN2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29321541
NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
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NME1
NME/NM23 nucleoside diphosphate kinase 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:7614395
RGD:2299071
NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:urinary bladder
RGD
PMID:10475345
RGD:2292089
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8631603 PMID:21213404
RGD:10401939
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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NRSN1
neurensin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 6:23,953,574...23,974,797
Ensembl chr 6:24,288,702...24,313,372
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PABPC1
poly(A) binding protein cytoplasmic 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783786
NCBI chr 8:97,346,433...97,365,628
Ensembl chr 8:99,518,347...99,537,614
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PHB1
prohibitin 1
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:8062216
RGD:2292407
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PLAU
plasminogen activator, urokinase
treatment
ISO
protein:increased expression:urinary bladder (human) DNA:snp:3' utr:g.4065C>T (human)
RGD
PMID:16825821 PMID:18336603 PMID:19010488
RGD:4144867 RGD:7241144 RGD:7241213
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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PLK1
polo like kinase 1
severity
ISO
RGD
PMID:15761500 PMID:16837776
RGD:2299938 RGD:2299940
NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779
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PMF1
polyamine modulated factor 1
disease_progression
ISO
RGD
PMID:19088041
RGD:30296651
NCBI chr 1:131,556,843...131,583,180
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POLB
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8631603
NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
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PPARG
peroxisome proliferator activated receptor gamma
ISO
protein:decreased expression:urinary bladder
RGD
PMID:18712722
RGD:2301870
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29275364
NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995
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PRDM2
PR/SET domain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:12,838,201...12,963,735
Ensembl chr 1:13,853,895...13,961,610 Ensembl chr 1:13,853,895...13,961,610
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PRKCA
protein kinase C alpha
severity disease_progression
ISO
protein:increased expression:urinary bladder protein:altered localization:urinary bladder
RGD
PMID:15922420 PMID:16008942
RGD:2292455 RGD:2298669
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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PRSS3
serine protease 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15987713
NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666
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PSCA
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19648920 PMID:20083643
NCBI chr 8:139,384,002...139,394,993
Ensembl chr 8:142,435,849...142,438,401
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PSMB2
proteasome 20S subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 1:34,869,524...34,911,852
Ensembl chr 1:36,046,963...36,090,294
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PTEN
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:urinary bladder DNA:mutations: :multiple
RGD
PMID:9671402 PMID:18190825
RGD:2291891 RGD:2292515
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGS2
prostaglandin-endoperoxide synthase 2
susceptibility disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:3' utr:837T>C (human)
CTD RGD
PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 PMID:17093206 PMID:18222600 PMID:18381966 PMID:21255800 PMID:29396848 More...
RGD:2300127 RGD:2300200 RGD:5508302
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RAB27A
RAB27A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34291859
NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
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RAB27B
RAB27B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34291859
NCBI chr18:48,099,912...48,274,416
Ensembl chr18:51,542,842...51,604,061
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RALBP1
ralA binding protein 1
ISO
mRNA, protein:increased expression:urinary bladder
RGD
PMID:17606711
RGD:2324917
NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934
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RALGPS1
Ral GEF with PH domain and SH3 binding motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 9:98,033,100...98,342,582
Ensembl chr 9:126,689,557...126,992,628
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RASSF1
Ras association domain family member 1
ISO
DNA:hypermethylation CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15987713 PMID:18702824
RGD:2299860
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
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RB1
RB transcriptional corepressor 1
disease_progression
ISO
ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
OMIM ClinVar RGD
PMID:1352883 PMID:2181449 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:15884040 PMID:16199547 PMID:16269091 PMID:16449662 PMID:17026804 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:22703879 PMID:23532519 PMID:24082139 PMID:24225018 PMID:24448499 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 More...
RGD:2299888
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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RELA
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
RGD
PMID:18089718 PMID:18188593
RGD:2293094 RGD:2298753
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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RETN
resistin
ISO
protein:increased expression:urine
RGD
PMID:18373357
RGD:7207154
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
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RHOA
ras homolog family member A
disease_progression
ISO
protein:increased expression:urinary bladder CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12855641 PMID:19896475
RGD:2298872
NCBI chr 3:49,282,009...49,339,887
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RRM2
ribonucleotide reductase regulatory subunit M2
ISO
mRNA:increased expression:bladder (rat) mRNA:increased expression:bladder (mouse) mRNA:increased expression:bladder (human)
RGD
PMID:21139803
RGD:5133688
NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
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RUNX3
RUNX family transcription factor 3
ISO
DNA:promoter:aberrant methylation
RGD
PMID:16230397
RGD:2302553
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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S100A8
S100 calcium binding protein A8
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
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S100A9
S100 calcium binding protein A9
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:17970044
RGD:2316906
NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497
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S100B
S100 calcium binding protein B
ISO
mRNA:decreased expression:urinary bladder urothelium mRNA:increased expression:urinary bladder urothelium
RGD
PMID:17970044
RGD:2316906
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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SERPINE1
serpin family E member 1
ISO
RGD
PMID:19010488
RGD:4144867
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SFN
stratifin
disease_progression
ISO
protein:increased expression:urothelium (human)
RGD
PMID:17645415
RGD:2299928
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SLC11A1
solute carrier family 11 member 1
disease_progression
ISO
DNA:repeat, polymorphism:promoter, cds:p.D543N (human)
RGD
PMID:16516037
RGD:5684951
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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SLC12A7
solute carrier family 12 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr 5:1,326,435...1,386,893
Ensembl chr 5:1,094,769...1,147,759
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SLC19A1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21760912
NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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SMAD2
SMAD family member 2
ISO
RGD
PMID:15548366
RGD:2299964
NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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SMAD4
SMAD family member 4
ISO
protein:decreased expression:urinary bladder
RGD
PMID:11783019
RGD:2299972
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SMC1A
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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SMC1B
structural maintenance of chromosomes 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121791
NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513
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SOCS1
suppressor of cytokine signaling 1
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:16242928 PMID:17522834
RGD:2298903 RGD:2298906
NCBI chr16:10,196,432...10,198,205
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14729580 PMID:17974967 PMID:18930813
RGD:7175539
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SOX2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29396848
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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SOX4
SRY-box transcription factor 4
ISO
RGD
PMID:16585165
RGD:1581304
NCBI chr 6:21,422,846...21,427,779
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SPARC
secreted protein acidic and cysteine rich
disease_progression
ISO
RGD
PMID:11696817 PMID:17149610
RGD:2300021 RGD:2300024
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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SPINK1
serine peptidase inhibitor Kazal type 1
disease_progression
ISO
mRNA, protein:decreased expression:urinary bladder
RGD
PMID:16327984
RGD:2300384
NCBI chr 5:143,273,137...143,287,745
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:21483670
RGD:6903265
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11723127 PMID:17093206
NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
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SRSF9
serine and arginine rich splicing factor 9
ISO
mRNA:increased expression:urinary bladder epithelium (human)
RGD
PMID:22178073
RGD:11040443
NCBI chr12:118,043,325...118,052,107
Ensembl chr12:121,417,557...121,425,708
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STAG2
stromal antigen 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121789 PMID:24121791 PMID:24121792
NCBI chr X:113,150,853...113,293,395
Ensembl chr X:123,389,162...123,472,474
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TACC3
transforming acidic coiled-coil containing protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121792
NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019
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TERT
telomerase reverse transcriptase
ISO
protein:increased expression:urine CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17644139 PMID:19151717
RGD:2291986
NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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TFF1
trefoil factor 1
ISO
protein:increased expression:urinary bladder
RGD
PMID:18283638
RGD:2291996
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
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TGFBR1
transforming growth factor beta receptor 1
ISO
RGD
PMID:9363992
RGD:2302036
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
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THBS1
thrombospondin 1
severity
ISO
protein:decreased expression:bladder
RGD
PMID:20299037
RGD:13602099
NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
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TIMP2
TIMP metallopeptidase inhibitor 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:serum
CTD RGD
PMID:17374529 PMID:17466450 PMID:30548095
RGD:2290395 RGD:2298521
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:18082200
RGD:2290411
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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TLR2
toll like receptor 2
ISO
DNA:deletion:promoter:−196_−174del (human)
RGD
PMID:23142523
RGD:7207893
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
treatment
ISO
RGD
PMID:19788935
RGD:7240556
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TMEFF2
transmembrane protein with EGF like and two follistatin like domains 2
ISO
DNA:hypermethylation:promoter
RGD
PMID:16234815
RGD:2290489
NCBI chr2B:79,242,825...79,489,113
Ensembl chr2B:197,158,689...197,396,254
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1674182
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TOP2A
DNA topoisomerase II alpha
disease_progression
ISO
RGD
PMID:19913893
RGD:2315121
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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TP53
tumor protein p53
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:urinary bladder
CTD RGD
PMID:9610789 PMID:11376694 PMID:12376482 PMID:12706858 PMID:15906354 PMID:18208803 PMID:22929185 PMID:29644616 More...
RGD:2290536
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:19690775
RGD:2315430
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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TP73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:10383132
RGD:2291836
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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TRPV1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19502594
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: 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:28087349 PMID:28492532 PMID:29221145 PMID:29655203 PMID:29932062 More...
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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TYMP
thymidine phosphorylase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11103787 PMID:15841086 PMID:16937303
RGD:2293716
NCBI chr22:30,772,088...30,776,618
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TYMS
thymidylate synthetase
ISO
RGD
PMID:18463958
RGD:2317413
NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
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UBE2I
ubiquitin conjugating enzyme E2 I
ISO
radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001)
RGD
PMID:16407042
RGD:2301343
Ensembl chr16:1,367,288...1,382,575
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USP7
ubiquitin specific peptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:increased expression:bladder
RGD
PMID:22895562
RGD:13605607
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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VEGFC
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:17094484
RGD:2315482
NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
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VEGFD
vascular endothelial growth factor D
disease_progression
ISO
RGD
PMID:17970053
RGD:2315479
NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704
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VHL
von Hippel-Lindau tumor suppressor
ISO
mRNA:decreased expression:urinary bladder
RGD
PMID:19399409
RGD:2325183
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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VWA3A
von Willebrand factor A domain containing 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186
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WIF1
WNT inhibitory factor 1
disease_progression
ISO
DNA:hypermethylation:promoter protein:decreased expression:urinary bladder
RGD
PMID:14517837 PMID:18325051
RGD:2291868 RGD:727214
NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
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WNT7B
Wnt family member 7B
ISO
mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003)
RGD
PMID:9461004
RGD:2299932
Ensembl chr22:44,988,647...45,044,841
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XDH
xanthine dehydrogenase
ISO
protein:decreased activity:urinary bladder
RGD
PMID:20087949
RGD:7247647
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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XRCC1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:polymorphism: :p.R399Q DNA:SNP: p.R399Q (human) DNA:polymorphisms: :multiple
RGD
PMID:17425776 PMID:18272472 PMID:18765423
RGD:150530493 RGD:2302568 RGD:2302572
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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YJEFN3
YjeF N-terminal domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26039340
NCBI chr19:18,966,788...18,976,052
Ensembl chr19:19,964,456...19,973,200
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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: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:20453470 PMID:21510009 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 More...
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
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 More...
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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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 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
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 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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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 PMID:28873162 More...
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Urinary Bladder Neoplasms
ClinVar
PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533067 PMID:10570911 PMID:10607950 PMID:11208653 PMID:11329144 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:16114042 PMID:16981987 PMID:17304050 PMID:18397877 PMID:18772611 PMID:19139070 PMID:21309039 PMID:21510812 PMID:21811971 PMID:22703879 PMID:23254740 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28492532 More...
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:18165924
RGD:10450583
NCBI chr19:276,499...280,598
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CD1D
CD1d molecule
ISO
protein:increased expression:B cell (human)
RGD
PMID:22347409
RGD:127345101
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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IL5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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AFAP1L2
actin filament associated protein 1 like 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr10:110,894,774...111,004,373
Ensembl chr10:114,324,736...114,434,148
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AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:11819209
RGD:6903866
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
no_association
ISO
DNA:transition:intron:-1332A>G (human)
RGD
PMID:11819209 PMID:12187255 PMID:15470205
RGD:6903853 RGD:6903860 RGD:6903866
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:12110011
RGD:7257580
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23200959
RGD:7245478
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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IFNG
interferon gamma
ISO
DNA:polymorphism: : 874T>A (human)
RGD
PMID:22906585
RGD:6893460
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:14760498
RGD:7242902
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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KAT6B
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
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LOC100992963
tenascin-X
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155
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MED13L
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649
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ROBO2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:28492532
NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309
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SOX17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:25741868
NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808
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VWA2
von Willebrand factor A domain containing 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr10:110,838,155...110,894,961
Ensembl chr10:114,285,212...114,321,148
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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 More...
NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309
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SOX17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 3
OMIM ClinVar
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479
NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808
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RETREG1
reticulophagy regulator 1
ISO
Neuropathy, sensory
OMIA
PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 PMID:30307654 PMID:30955094 PMID:34387380 More...
NCBI chr 5:16,774,596...16,920,948
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LOC100992963
tenascin-X
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 8
OMIM ClinVar
PMID:23620400 PMID:25741868 PMID:27657687
NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155
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