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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.

Term:bladder disease
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Accession:DOID:365 term browser browse the term
Definition:Pathological processes of the URINARY BLADDER.
Synonyms:exact_synonym: Bladder Diseases;   urinary bladder disease;   urinary bladder diseases
 primary_id: MESH:D001745
 alt_id: RDO:0000729
 xref: ICD10CM:N32.9;   ICD9CM:596.9;   NCI:C2900
For additional species annotation, visit the Alliance of Genome Resources.



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bladder disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRM3 cholinergic receptor muscarinic 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17922784 PMID:22077972 RGD:5133442 NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder RGD PMID:17763394 RGD:2315846 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G NGF nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G RGS2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
JBrowse link
G RGS3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr11:67,781,832...67,878,153
Ensembl chr11:67,781,962...67,920,075
JBrowse link
G RGS4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr38:19,771,454...19,778,917
Ensembl chr38:19,771,441...19,779,190
JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO associated with Spinal Cord Injuries;protein:decreased expression:axon terminus RGD PMID:17229408 RGD:5686699 NCBI chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G VIP vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
JBrowse link
acute cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCN2 lipocalin 2 disease_progression ISO associated with urinary tract infection; RGD PMID:25398327 RGD:126779559 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
JBrowse link
bladder calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246
JBrowse link
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar PMID:28492532 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA1A adrenoceptor alpha 1A ISO RGD PMID:20886573 RGD:5688368 NCBI chr25:30,690,959...30,801,484
Ensembl chr25:30,693,571...30,801,486
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G ELN elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
JBrowse link
G MMP7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G OPTN optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
bladder squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTEN phosphatase and tensin homolog disease_progression ISO associated with schistosomiasis;protein:decreased expression:urothelium (human) RGD PMID:26916953 RGD:127285612 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
bladder urothelial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL7A actin like 7A ISO RGD PMID:29058301 RGD:13831338 NCBI chr11:64,031,305...64,033,908
Ensembl chr11:64,032,358...64,033,788
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity ISO protein:increased expression:urothelial cells (human) RGD PMID:28507621 RGD:38500205 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G KDM6A lysine demethylase 6A susceptibility ISO associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) RGD PMID:30352907 RGD:150429735 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:34906502 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G 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 chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar NCBI chr 4:10,735,307...11,006,650
Ensembl chr 4:10,735,306...11,066,274
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:27657687 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653
JBrowse link
G CDC5L cell division cycle 5 like ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:27657687 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801
JBrowse link
G 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 chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
JBrowse link
G 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 chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215
JBrowse link
G DHX8 DEAH-box helicase 8 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,734,356...19,766,212
Ensembl chr 9:19,729,816...19,766,555
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827
JBrowse link
G 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 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
JBrowse link
G ETV4 ETS variant transcription factor 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,715,259...19,731,085
Ensembl chr 9:19,715,535...19,730,456
JBrowse link
G 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 chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 PMID:32475988
G 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 chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
JBrowse link
G 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 chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
JBrowse link
G 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 More... NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
JBrowse link
G 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 chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
JBrowse link
G 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 More... NCBI chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993
JBrowse link
G 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 chr28:11,584,440...12,215,732
Ensembl chr28:11,585,807...12,215,614
JBrowse link
G HSP70 heat shock protein 70 ISO DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr12:1,285,282...1,287,670 JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:28492532 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G 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 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
JBrowse link
G 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 chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
G 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:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
JBrowse link
G 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 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
JBrowse link
G 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 chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
JBrowse link
G 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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
JBrowse link
G 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 chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728
JBrowse link
G 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 More... NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
JBrowse link
G 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 chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521
JBrowse link
G 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 chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509
JBrowse link
G 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 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
JBrowse link
G 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 chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
JBrowse link
G 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 chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205
JBrowse link
G TBX6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636
JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:30143558 NCBI chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021
JBrowse link
G 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 chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427
JBrowse link
G 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 More... NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
JBrowse link
G 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 chr25:18,040,081...18,158,241
Ensembl chr25:18,050,995...18,156,980
JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254
JBrowse link
G 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 chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:15888565 PMID:16731295 NCBI chr10:20,747,139...20,755,131
Ensembl chr10:20,747,140...20,755,162
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G 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 chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
CAKUT3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
congenital megabladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOCD myocardin ISO ClinVar Annotator: match by term: Megabladder, congenital OMIM
ClinVar
PMID:25741868 PMID:31513549 NCBI chr 5:36,674,476...36,774,435
Ensembl chr 5:36,674,300...36,769,327
JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996
JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:119,124,042...119,197,394
Ensembl chr 1:119,123,933...119,197,338
JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 More... NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405
JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO
IAGP
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
Cystinuria, type II - A
Cystinuria, type I - A
DNA:missense mutations
OMIM
ClinVar
OMIA
RGD
PMID:7493896 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8334504 More... RGD:1600015 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO
IAGP
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
Cystinuria, type II - B
OMIM
ClinVar
OMIA
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054
JBrowse link
cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO mRNA:increased expression:urinary bladder urothelium RGD PMID:18563302 RGD:2315964 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G ADCYAP1R1 ADCYAP receptor type I ISO mRNA:increased expression:urothelium, detrusor muscle (rat) RGD PMID:18563302 RGD:2315964 NCBI chr14:43,707,683...43,761,166
Ensembl chr14:43,701,745...43,756,571
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:9631447 PMID:20079809 RGD:5684910 RGD:8657090 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CAT catalase ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CSF3 colony stimulating factor 3 ISO protein:increased expression:urinary bladder RGD PMID:18848347 RGD:2317284 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:urinary bladder urothelium RGD PMID:16651033 RGD:4891972 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:urinary bladder urothelium RGD PMID:16651033 RGD:4891972 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G ESR2 estrogen receptor 2 ISO protein:decreased expression:bladder RGD PMID:16894621 RGD:5508847 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17980069 NCBI chr 1:102,311,960...102,319,102
Ensembl chr 1:102,316,105...102,318,653
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:urine, bladder RGD PMID:18848347 RGD:2317284 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:urinary bladder RGD PMID:11948286 PMID:23000860 RGD:6907118 RGD:7175333 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:20860016 RGD:5147913 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:urine RGD PMID:18848347 RGD:2317284 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:21412823 RGD:5684428 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G LTA lymphotoxin alpha ISO mRNA:increased expression:urinary bladder RGD PMID:11948286 RGD:6907118 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MIF macrophage migration inhibitory factor ISO mRNA, protein:increased expression:nervous system RGD PMID:12853844 PMID:19066630 RGD:1642002 RGD:4890977
G MPO myeloperoxidase ISO protein:increased activity:bladder RGD PMID:19418724 RGD:7174704 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:17659847 RGD:7349345 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:17659847 RGD:7349345 NCBI chr18:45,471,232...45,498,961 JBrowse link
G 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 chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NGFR nerve growth factor receptor ISO protein, mRNA:increased expression:lumbosacral dorsal root ganglia RGD PMID:18189308 RGD:5508447 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:22432050 RGD:7248677 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:20860016 RGD:5147913 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20602232 RGD:5135058 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22099998 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:17382773 RGD:2304340 NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971
JBrowse link
G TLR5 toll like receptor 5 severity ISO DNA:nonsense mutation:cds:p.R392X (human) RGD PMID:19543401 RGD:7246906 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314
JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:urinary bladder RGD PMID:11948286 RGD:6907118 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
Diabetic Cystopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:increased expression:nuclei: RGD PMID:20879002 RGD:10053565 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23129268 RGD:10053664 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G CASP12 caspase 12 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle RGD PMID:26370333 RGD:13782173 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683
JBrowse link
female stress incontinence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGS2 regulator of G protein signaling 2 ISO RGD PMID:18372098 RGD:13524574 NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
JBrowse link
hemorrhagic cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase ISO protein:increased activity:urinary bladder: RGD PMID:19107871 RGD:7257548 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416
JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866
JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147
JBrowse link
interstitial cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism:cds:p.R16G (human) RGD PMID:12442007 RGD:7175285 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum RGD PMID:21284020 RGD:6907432 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:22441309 RGD:7241234 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:urine RGD PMID:18848347 RGD:2317284 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18957084 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18957084 NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868
Ensembl chr32:631,478...632,868
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:17522255 RGD:7364800 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:21166752 RGD:6483539 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22738385 RGD:7245526 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G 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 chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:bladder RGD PMID:21179332 RGD:4891153 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:16622179 RGD:7245525 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:bladder, urine RGD PMID:22441309 RGD:7241234 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
neurogenic bladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRM2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20624991 NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:25741868 PMID:33217309 NCBI chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:28017373 PMID:32366537 PMID:33956416 NCBI chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022
JBrowse link
G NGF nerve growth factor treatment ISO associated with Meningomyelocele;protein:increased expression:urine
associated with Spinal Cord Injuries
RGD PMID:22220508 PMID:23301927 RGD:7242771 RGD:7242776 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
Overactive Urinary Bladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16322346 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:15576455 RGD:1625040 NCBI chr 8:65,017,655...65,028,899 JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:urine RGD PMID:19784793 RGD:7248423 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum RGD PMID:21284020 RGD:6907432 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15371886 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G GJA1 gap junction protein alpha 1 ISO mRNA:increased expression:urinary bladder RGD PMID:17855776 RGD:7207474 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:urinary bladder RGD PMID:17855776 RGD:7207474 NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315
JBrowse link
G NGF nerve growth factor treatment ISO associated with Cystitis;protein:increased expression:urine
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
associated with Hypertension
RGD
CTD
PMID:16600756 PMID:17050722 PMID:21605172 PMID:21717507 PMID:21826717 More... RGD:7242775 RGD:7242778 RGD:7242779 RGD:7242780 RGD:7242798 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Spinal Cord Injuries RGD PMID:28954467 RGD:13434913 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G NRG1 neuregulin 1 treatment ISO RGD PMID:24152577 RGD:10449030 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
JBrowse link
G PENK proenkephalin treatment ISO RGD PMID:23316929 RGD:10003040 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398
JBrowse link
G TRPA1 transient receptor potential cation channel subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:21367919 PMID:23523557 RGD:10043365 NCBI chr29:20,951,736...21,000,956
Ensembl chr29:20,951,716...21,001,208
JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
JBrowse link
urinary bladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29644616 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO protein:increased expression:urinary bladder RGD PMID:18190825 RGD:2291891 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:urinary bladder RGD PMID:14532840 RGD:2315608 NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G AMACR alpha-methylacyl-CoA racemase severity ISO RGD PMID:18648853 RGD:2315629 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G AMFR autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9241080 NCBI chr 2:59,766,910...59,803,292
Ensembl chr 2:59,767,324...59,801,883
JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 5:30,246,440...30,328,618
Ensembl chr 5:30,249,280...30,328,962
JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO RGD PMID:19041121 RGD:2315660 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr11:50,517,509...50,524,565 JBrowse link
G AREG amphiregulin disease_progression ISO mRNA:increased expression:urinary bladder RGD PMID:11133810 PMID:11507076 RGD:2292661 RGD:2292662 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G AS3MT arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094 NCBI chr28:15,334,141...15,350,749 JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr13:27,111,785...27,468,476
Ensembl chr13:27,113,994...27,430,758
JBrowse link
G ASXL2 ASXL transcriptional regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr17:19,914,026...20,065,141
Ensembl chr17:19,895,568...20,044,691
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722
JBrowse link
G AURKA aurora kinase A disease_progression ISO mRNA, protein:increased expression:urinary bladder RGD PMID:18485461 RGD:2293871 NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791
JBrowse link
G AXIN1 axin 1 susceptibility ISO DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) RGD PMID:31143301 RGD:150527861 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO RGD PMID:18452128 RGD:2296023 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO DNA:hypermethylation:promoter RGD PMID:18094410 PMID:18342927 RGD:2292910 RGD:2293014 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression ISO RGD PMID:18342927 RGD:2292910 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12926068 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO protein:increased expression:urinary bladder RGD PMID:17905101 PMID:18089718 RGD:2293094 RGD:2293096 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr 9:12,586,107...12,703,296
Ensembl chr 9:12,590,333...12,703,422
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:hypermethylation:promoter RGD PMID:18094410 RGD:2293014 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CA9 carbonic anhydrase 9 disease_progression ISO RGD PMID:14520462 RGD:2293197 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
JBrowse link
G CALHM1 calcium homeostasis modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr28:15,821,121...15,826,029
Ensembl chr28:15,814,429...15,825,924
JBrowse link
G CASP3 caspase 3 disease_progression ISO RGD PMID:17267327 RGD:2298949 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G 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 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CAV1 caveolin 1 severity ISO protein:increased expression:urinary bladder RGD PMID:12866378 RGD:2289110 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CBX7 chromobox 7 severity ISO mRNA:decreased expression:urinary bladder (human) RGD PMID:18984978 RGD:9587361 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:bladder RGD PMID:12372886 RGD:13602096 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCND3 cyclin D3 disease_progression ISO RGD PMID:16482499 RGD:2316012 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891
JBrowse link
G CCNE1 cyclin E1 severity
disease_progression
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:urinary bladder
CTD
RGD
PMID:16739882 PMID:18047954 PMID:20972438 PMID:27514407 RGD:2289267 RGD:2296035 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CCNG1 cyclin G1 ISO mRNA:decreased expression:bladder (human) RGD PMID:27982046 RGD:151361200 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16361570 RGD:7248437 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD44 CD44 molecule ISO RGD PMID:16321281 RGD:2289357 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CD82 CD82 molecule disease_progression ISO protein:decreased expression:urinary bladder RGD PMID:14706010 PMID:17290345 RGD:2289391 RGD:2289401 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14534881 RGD:2326207 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:17145867 RGD:2715645 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
JBrowse link
G CDC25B cell division cycle 25B disease_progression ISO RGD PMID:19383904 RGD:2739695 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
JBrowse link
G CDH1 cadherin 1 disease_progression ISO Protein:increased expression:cytoplasm
CTD Direct Evidence: marker/mechanism
protein:decreased expression:urinary bladder
RGD
CTD
PMID:17167984 PMID:17520682 PMID:17760743 PMID:26901067 RGD:1599549 RGD:2289491 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:18094410 RGD:2293014 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:17145867 RGD:2715645 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO protein:increased expression:urinary bladder
DNA:amplification
RGD PMID:11971182 PMID:16896691 RGD:2289144 RGD:2299056 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18640142 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B susceptibility
disease_progression
ISO RGD PMID:18027869 PMID:18334837 RGD:2293592 RGD:2293595 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO protein:increased expression:urinary bladder
DNA:deletion
DNA:hypermethylation:promoter
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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:deletion:urinary bladder RGD PMID:15590562 PMID:16624482 RGD:2289696 RGD:7248757 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr24:29,397,320...29,601,206
Ensembl chr24:29,397,306...29,601,350
JBrowse link
G CHEK2 checkpoint kinase 2 treatment
susceptibility
ISO DNA:mutations: :multiple RGD PMID:17918154 PMID:21396995 RGD:10401655 RGD:2289704 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CILP2 cartilage intermediate layer protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr20:43,713,245...43,721,494
Ensembl chr20:43,703,274...43,722,505
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
JBrowse link
G COMT catechol-O-methyltransferase ISO protein:increased expression:urinary bladder, urine RGD PMID:15596044 RGD:2289726 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7525883 PMID:17515069 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:17760743 RGD:2289491 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CTNNB1 catenin beta 1 disease_progression ISO RGD PMID:17175927 RGD:2289829 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CTSB cathepsin B ISO protein:increased activity:transitional cell carcinoma (human) RGD PMID:15183956 RGD:2315615 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22015448 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO DNA:SNP RGD PMID:19252927 RGD:2315930 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:17406000 RGD:7257712 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G 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 chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO RGD PMID:21990318 RGD:7257730 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G CYP4B1 cytochrome P450 family 4 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18713828 NCBI chr15:13,676,631...13,694,483
Ensembl chr15:13,676,371...13,694,705
JBrowse link
G DAPK1 death associated protein kinase 1 ISO DNA:hypermethylation RGD PMID:12124340 RGD:734875 NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression RGD PMID:14634451 RGD:2301220 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DUSP1 dual specificity phosphatase 1 disease_progression ISO RGD PMID:17690186 RGD:2298694 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 disease_progression ISO protein:decreased expression:urothelium: RGD PMID:24917520 RGD:10401219 NCBI chr35:8,012,304...8,035,176 JBrowse link
G 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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENO2 enolase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17951193 PMID:22613180 RGD:2293738 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
JBrowse link
G EOMES eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr23:16,476,498...16,512,406
Ensembl chr23:16,506,032...16,511,527
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G EPHX1 epoxide hydrolase 1 disease_progression ISO DNA:SNPs RGD PMID:19252927 RGD:2315930 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G 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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:16685269 RGD:2298502 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
JBrowse link
G 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 chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24121791 PMID:25316812 PMID:27111033 RGD:11252208 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062074 NCBI chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887
JBrowse link
G ESPL1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121792 NCBI chr27:1,911,179...1,934,446
Ensembl chr27:1,911,193...1,933,807
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16712894 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G ESR2 estrogen receptor 2 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urinary bladder urothelium (human)
CTD
RGD
PMID:16700038 PMID:23612777 RGD:7364758 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:increased expression:urinary bladder RGD PMID:21539681 RGD:126781700 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G F2 coagulation factor II, thrombin severity ISO protein:increased expression:urine RGD PMID:22236518 RGD:6893573 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G FANCA FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19237606 PMID:24121791 RGD:11344902 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G 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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:polymorphisms:promoter:-844T>C RGD PMID:16538171 RGD:2290063 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G FBXW8 F-box and WD repeat domain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr26:13,520,605...13,640,975
Ensembl chr26:13,412,189...13,638,258
JBrowse link
G FERMT2 FERM domain containing kindlin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21624607 NCBI chr 8:29,083,538...29,135,915
Ensembl chr 8:29,084,531...29,133,391
JBrowse link
G FGF1 fibroblast growth factor 1 ISO RGD PMID:11908679 RGD:2290291 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:11908679 RGD:2290291 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G 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 chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 disease_progression
severity
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
protein:increased expression:urinary bladder
DNA:mutations
OMIM
ClinVar
RGD
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... RGD:2301223 RGD:2301224 RGD:2301225 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G 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 chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:urine RGD PMID:20012564 RGD:7205680 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
JBrowse link
G GGH gamma-glutamyl hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19815704 NCBI chr29:13,143,881...13,165,028
Ensembl chr29:13,134,232...13,165,028
JBrowse link
G GLI1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20179202 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15247771 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO mRNA:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7729958 PMID:9111193 PMID:12500666 PMID:18544563 PMID:21213404 More... RGD:10401939 RGD:6906879 RGD:6906883 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439
JBrowse link
G HDAC4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21507255 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G HK1 hexokinase 1 treatment ISO RGD PMID:23893687 RGD:11353960 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211
JBrowse link
G HMBS hydroxymethylbilane synthase ISO urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) RGD PMID:16600798 RGD:2301681 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HMGB3 high mobility group box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639441 NCBI chr  X:119,152,166...119,159,803
Ensembl chr  X:119,155,786...119,159,814
JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26332997 NCBI chr14:40,336,829...40,340,533
Ensembl chr14:40,337,999...40,339,923
JBrowse link
G 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 More... RGD:2314833 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2297754 NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855
JBrowse link
G IFNG interferon gamma treatment ISO protein:decreased expression:serum RGD PMID:11219496 PMID:22906662 RGD:6893349 RGD:8157619 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19415693 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism
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
RGD
PMID:12544349 PMID:21347663 RGD:2290028 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870
JBrowse link
G IGSF21 immunoglobin superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 2:80,114,962...80,355,204
Ensembl chr 2:80,114,963...80,355,486
JBrowse link
G IL1B interleukin 1 beta disease_progression ISO mRNA:increased expression:urinary bladder tumor (human) RGD PMID:21308147 RGD:7175327 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:intron:IVS2+914_1000dup multiple (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD PMID:16698387 PMID:19489682 RGD:6907081 RGD:6907367 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:1949363 PMID:3262172 PMID:3495671 RGD:8663471 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G INPP4B inositol polyphosphate-4-phosphatase type II B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29415082 NCBI chr19:826,711...1,192,340
Ensembl chr19:850,784...1,186,498
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26332997 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
JBrowse link
G JUP junction plakoglobin severity
disease_progression
ISO 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)
DNA, protein:mutations, increased expression:urinary bladder
protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001)
RGD PMID:9783980 PMID:11585741 PMID:17363521 RGD:2289818 RGD:2291880 RGD:2301748 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G KDM4A lysine demethylase 4A ISO mRNA:increased expression:urinary bladder (human) RGD PMID:23603248 RGD:9587435 NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000
JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA, protein:increased expression:urinary bladder (human) RGD PMID:21930796 RGD:9587740 NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816
JBrowse link
G KDM5B lysine demethylase 5B ISO mRNA:increased expression:urinary bladder (human) RGD PMID:20226085 RGD:9587778 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386
JBrowse link
G KDM6A lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G 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 chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G 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 chr38:768,333...774,328
Ensembl chr38:768,585...773,382
JBrowse link
G 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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G KLF5 Kruppel like factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27514407 NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871
JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G 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 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G KRT81 keratin 81 ISO RGD PMID:7507402 RGD:1600196 NCBI chr27:2,776,693...2,782,016 JBrowse link
G LAMA2 laminin subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G LIG1 DNA ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr 1:108,105,523...108,143,954
Ensembl chr 1:108,105,987...108,143,953
JBrowse link
G LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like ISO DNA:hypermethylation:promoter RGD PMID:26929985 RGD:14696811 NCBI chr14:7,516,917...7,517,538 JBrowse link
G LOXL1 lysyl oxidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456585 NCBI chr30:37,191,201...37,204,163
Ensembl chr30:37,183,128...37,204,058
JBrowse link
G LOXL4 lysyl oxidase like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456585 NCBI chr28:11,399,465...11,419,562
Ensembl chr28:11,400,446...11,419,559
JBrowse link
G 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 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:15665277 RGD:2306057 NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296
JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr13:37,317,061...37,322,792
Ensembl chr13:37,316,424...37,322,792
JBrowse link
G MDM2 MDM2 proto-oncogene severity ISO mRNA:increased expression:bladder RGD PMID:27798881 RGD:13602098 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase susceptibility ISO DNA:polymorphisms:cds:p.L53L, p.L84F (human) RGD PMID:15885889 RGD:2317672 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MIR152 microRNA mir-152 severity ISO miRNA:decreased expression:urinary bladder RGD PMID:30015946 RGD:19165141 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR186 microRNA mir-186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 6:74,881,615...74,881,675
Ensembl chr 6:74,881,601...74,881,686
JBrowse link
G MIR29C-2 microRNA mir-29c-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 7:6,651,339...6,651,396 JBrowse link
G MIR33B microRNA mir-33b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 5:41,685,165...41,685,258
Ensembl chr 5:41,685,165...41,685,258
JBrowse link
G MIR34B microRNA mir-34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 5:21,558,685...21,558,768
Ensembl chr 5:21,558,685...21,558,768
JBrowse link
G MIR532 microRNA mir-532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639441 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738
JBrowse link
G MIR99A-1 microRNA mir-99a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr31:13,258,782...13,258,840
Ensembl chr31:13,258,782...13,258,840
JBrowse link
G MIR99A-2 microRNA mir-99a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 5:12,047,369...12,047,425
Ensembl chr 5:12,047,369...12,047,425
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:urinary bladder RGD PMID:20367636 RGD:2317708 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO RGD PMID:15296997 RGD:2293518 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607insG (human)
protein:increased expression:urine (human)
RGD PMID:11705862 PMID:17986285 RGD:7207077 RGD:7207140 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G 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 chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17466450 PMID:30548095 RGD:2290395 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17466450 PMID:30548095 RGD:2290395 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729580 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
JBrowse link
G 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 chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO DNA:mutation
associated with Lynch syndrome
DNA:mutations: :multiple
protein:decreased expression:urinary bladder
RGD PMID:18254781 PMID:18389386 PMID:22883484 PMID:26385421 RGD:126790557 RGD:126790580 RGD:2293502 RGD:2293503 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH6 mutS homolog 6 disease_progression ISO protein:decreased expression:urinary bladder RGD PMID:18254781 RGD:2293503 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO DNA:deletion: :(human) RGD PMID:15254717 RGD:2302294 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO DNA:deletion:cds RGD PMID:18245469 RGD:2298953 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
JBrowse link
G MT-III transcription initiation factor TFIID subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16854967 NCBI chr 2:59,624,845...59,630,386 JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:deletion: :(human) RGD PMID:15254717 RGD:2302294 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
JBrowse link
G MT2A metallothionein 1H ISO CTD Direct Evidence: marker/mechanism CTD PMID:7729958 PMID:16565513 NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:transition:cds:g.677C>T (human)
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
DNA:transversion:cds:g.1298A>C (human)
protein:missense mutation:cds:p.A222V (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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:19261747 RGD:10040979 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:19837268 RGD:6893521 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum: RGD PMID:10468735 RGD:7245967 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO DNA:repeats RGD PMID:19191526 RGD:7349339 NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility
disease_progression
ISO DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:urinary bladder urothelium (human)
RGD
CTD
PMID:2228319 PMID:20939013 PMID:22028816 PMID:23284801 RGD:7207401 RGD:7207418 RGD:7207427 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NCAN neurocan ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr20:43,944,257...43,970,864
Ensembl chr20:43,945,143...43,970,886
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464
JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 disease_progression ISO mRNA:increased expression:bladder RGD PMID:20421545 RGD:13602004 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29321541 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
JBrowse link
G NME1 non-metastatic cells 1, protein (NM23A) expressed in ISO mRNA:increased expression:urinary bladder RGD PMID:7614395 RGD:2299071 NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955
JBrowse link
G NME2 non-metastatic cells 2, protein (NM23B) expressed in ISO mRNA:increased expression:urinary bladder RGD PMID:7614395 RGD:2299071 NCBI chr 9:27,002,114...27,005,740
Ensembl chr 9:27,001,733...27,015,934
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:urinary bladder RGD PMID:10475345 RGD:2292089 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8631603 PMID:21213404 RGD:10401939 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G NRSN1 neurensin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr35:22,216,835...22,237,398
Ensembl chr35:22,216,930...22,237,411
JBrowse link
G OR8S1 olfactory receptor family 8 subfamily S member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr27:6,107,089...6,108,960 JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783786 NCBI chr13:2,563,698...2,580,610
Ensembl chr13:2,564,065...2,580,368
JBrowse link
G PHB1 prohibitin 1 ISO mRNA:increased expression:urinary bladder RGD PMID:8062216 RGD:2292407 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G PLAU plasminogen activator, urokinase treatment ISO DNA:snp:3' utr:g.4065C>T (human)
protein:increased expression:urinary bladder (human)
RGD PMID:16825821 PMID:18336603 PMID:19010488 RGD:4144867 RGD:7241144 RGD:7241213 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PLK1 polo like kinase 1 severity ISO RGD PMID:15761500 PMID:16837776 RGD:2299938 RGD:2299940 NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component susceptibility ISO DNA:SNP: :rs6463524 (human) RGD PMID:19692168 RGD:2315025 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322
JBrowse link
G POR cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:decreased expression:urinary bladder RGD PMID:18712722 RGD:2301870 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:29275364 NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994
JBrowse link
G PRDM2 PR/SET domain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 2:83,381,021...83,429,640
Ensembl chr 2:83,382,552...83,465,687
JBrowse link
G PRKCA protein kinase C alpha disease_progression
severity
ISO protein:altered localization:urinary bladder
protein:increased expression:urinary bladder
RGD PMID:15922420 PMID:16008942 RGD:2292455 RGD:2298669 NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630
JBrowse link
G PRSS2 serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15987713 NCBI chr16:6,778,109...6,781,404 JBrowse link
G PSCA prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648920 PMID:20083643 NCBI chr13:36,773,434...36,776,740
Ensembl chr13:36,773,875...36,776,194
JBrowse link
G PSMB2 proteasome 20S subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr15:6,511,281...6,544,859
Ensembl chr15:6,511,325...6,544,857
JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO DNA:mutations: :multiple
protein:decreased expression:urinary bladder
RGD PMID:9671402 PMID:18190825 RGD:2291891 RGD:2292515 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression
susceptibility
ISO DNA:SNP:3' utr:837T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 More... RGD:2300127 RGD:2300200 RGD:5508302 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521
JBrowse link
G RAB27B RAB27B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 1:20,695,100...20,832,745
Ensembl chr 1:20,700,514...20,832,975
JBrowse link
G RALBP1 ralA binding protein 1 ISO mRNA, protein:increased expression:urinary bladder RGD PMID:17606711 RGD:2324917 NCBI chr 7:75,461,220...75,511,860
Ensembl chr 7:75,461,222...75,510,229
JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 9:56,079,838...56,374,986
Ensembl chr 9:56,083,858...56,374,539
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation
CTD
RGD
PMID:15987713 PMID:18702824 RGD:2299860 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G 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 More... RGD:2299888 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO RGD PMID:18089718 PMID:18188593 RGD:2293094 RGD:2298753 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G RETN resistin ISO protein:increased expression:urine RGD PMID:18373357 RGD:7207154 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G RHOA ras homolog family member A disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urinary bladder
CTD
RGD
PMID:12855641 PMID:19896475 RGD:2298872 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO mRNA:increased expression:bladder (human)
mRNA:increased expression:bladder (mouse)
mRNA:increased expression:bladder (rat)
RGD PMID:21139803 RGD:5133688 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:aberrant methylation RGD PMID:16230397 RGD:2302553
G S100A8 S100 calcium binding protein A8 ISO mRNA:increased expression:urinary bladder RGD PMID:17970044 RGD:2316906 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO mRNA:increased expression:urinary bladder RGD PMID:17970044 RGD:2316906 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G 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 chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:19010488 RGD:4144867 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SFN stratifin disease_progression ISO protein:increased expression:urothelium (human) RGD PMID:17645415 RGD:2299928 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SLC11A1 solute carrier family 11 member 1 disease_progression ISO DNA:repeat, polymorphism:promoter, cds:p.D543N (human) RGD PMID:16516037 RGD:5684951 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC12A7 solute carrier family 12 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr34:11,411,521...11,442,175
Ensembl chr34:11,411,626...11,440,957
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21760912 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:15548366 RGD:2299964 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD4 SMAD family member 4 ISO protein:decreased expression:urinary bladder RGD PMID:11783019 RGD:2299972 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr  X:45,099,312...45,148,103
Ensembl chr  X:45,109,653...45,148,001
JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr10:20,640,695...20,711,853
Ensembl chr10:20,640,187...20,711,822
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 disease_progression ISO DNA:hypermethylation:promoter RGD PMID:16242928 PMID:17522834 RGD:2298903 RGD:2298906 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14729580 PMID:17974967 PMID:18930813 RGD:7175539 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29396848 NCBI chr34:14,853,000...14,855,153 JBrowse link
G SOX4 SRY-box transcription factor 4 ISO RGD PMID:16585165 RGD:1581304 NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
JBrowse link
G SPARC secreted protein acidic and cysteine rich disease_progression ISO RGD PMID:11696817 PMID:17149610 RGD:2300021 RGD:2300024 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 disease_progression ISO mRNA, protein:decreased expression:urinary bladder RGD PMID:16327984 RGD:2300384 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:21483670 RGD:6903265 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723127 PMID:17093206 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 ISO mRNA:increased expression:urinary bladder epithelium (human) RGD PMID:22178073 RGD:11040443 NCBI chr26:16,363,275...16,369,699
Ensembl chr26:16,363,475...16,369,666
JBrowse link
G STAG2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121789 PMID:24121791 PMID:24121792 NCBI chr  X:95,397,174...95,532,716
Ensembl chr  X:95,396,870...95,531,133
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO DNA:SNP:CDS:reduced risk associated with the His allele of the R213H polymorphism in women, particularly in those with no history of smoking RGD PMID:14643027 RGD:1581442 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121792 NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024
JBrowse link
G TERT telomerase reverse transcriptase ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17644139 PMID:19151717 RGD:2291986 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:urinary bladder RGD PMID:18283638 RGD:2291996 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:9363992 RGD:2302036 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
JBrowse link
G THBS1 thrombospondin 1 severity ISO protein:decreased expression:bladder RGD PMID:20299037 RGD:13602099 NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17374529 PMID:17466450 PMID:30548095 RGD:2290395 RGD:2298521 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA:hypermethylation:promoter RGD PMID:18082200 RGD:2290411 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G TLR2 toll like receptor 2 ISO DNA:deletion:promoter:−196_−174del (human) RGD PMID:23142523 RGD:7207893 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 treatment ISO RGD PMID:19788935 RGD:7240556 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 ISO DNA:hypermethylation:promoter RGD PMID:16234815 RGD:2290489 NCBI chr37:2,414,208...2,635,283
Ensembl chr37:2,414,440...2,635,431
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:1674182 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TOP2A DNA topoisomerase II alpha disease_progression ISO RGD PMID:19913893 RGD:2315121 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
JBrowse link
G 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 More... RGD:2290536 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:19690775 RGD:2315430 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:urinary bladder RGD PMID:10383132 RGD:2291836 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19502594 NCBI chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926
JBrowse link
G 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 More... NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
G TYMS thymidylate synthetase ISO RGD PMID:18463958 RGD:2317413 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
JBrowse link
G 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 NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588
JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 6:33,277,328...33,315,601
Ensembl chr 6:33,277,444...33,314,491
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression:bladder RGD PMID:22895562 RGD:13605607 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VEGFC vascular endothelial growth factor C disease_progression ISO RGD PMID:17094484 RGD:2315482 NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563
JBrowse link
G VEGFD vascular endothelial growth factor D disease_progression ISO RGD PMID:17970053 RGD:2315479 NCBI chr  X:11,590,097...11,627,199
Ensembl chr  X:11,590,089...11,626,486
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO mRNA:decreased expression:urinary bladder RGD PMID:19399409 RGD:2325183 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
G VWA3A von Willebrand factor A domain containing 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 6:23,473,609...23,533,434
Ensembl chr 6:23,473,810...23,532,776
JBrowse link
G WIF1 WNT inhibitory factor 1 disease_progression ISO protein:decreased expression:urinary bladder
DNA:hypermethylation:promoter
RGD PMID:14517837 PMID:18325051 RGD:2291868 RGD:727214 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859
JBrowse link
G 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 NCBI chr10:20,160,916...20,208,786
Ensembl chr10:20,160,206...20,243,160
JBrowse link
G XDH xanthine dehydrogenase ISO protein:decreased activity:urinary bladder RGD PMID:20087949 RGD:7247647 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
G XRCC1 X-ray repair cross complementing 1 no_association
susceptibility
ISO DNA:polymorphisms: :multiple
DNA:SNP: p.R399Q (human)
DNA:polymorphism: :p.R399Q
RGD PMID:17425776 PMID:18272472 PMID:18765423 RGD:150530493 RGD:2302568 RGD:2302572 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
Urinary Bladder Neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G 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 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G 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 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G 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 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G 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 More... NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G 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 More... NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
Urinary Bladder Reperfusion Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:18165924 RGD:10450583 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
urinary schistosomiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule ISO protein:increased expression:B cell (human) RGD PMID:22347409 RGD:127345101 NCBI chr38:23,489,169...23,491,712 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs:multiple:Gabonese(human) RGD PMID:22288822 RGD:7204674 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G IL5 interleukin 5 resistance ISO RGD PMID:9697734 RGD:7241010 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G STAT6 signal transducer and activator of transcription 6 severity ISO DNA:SNP:enhancer: (rs324013) RGD PMID:18273035 RGD:7243977 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
JBrowse link
vesicoureteral reflux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFAP1L2 actin filament associated protein 1 like 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr28:25,137,235...25,228,454
Ensembl chr28:25,133,296...25,194,431
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:11819209 RGD:6903866 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G 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:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:12110011 RGD:7257580 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23200959 RGD:7245478 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
JBrowse link
G IFNG interferon gamma ISO DNA:polymorphism: : 874T>A (human) RGD PMID:22906585 RGD:6893460 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:14760498 RGD:7242902 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512
JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:28492532 NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
JBrowse link
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:25741868 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124
JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
JBrowse link
G VWA2 von Willebrand factor A domain containing 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr28:25,089,499...25,136,879
Ensembl chr28:25,089,499...25,136,893
JBrowse link
Vesicoureteral Reflux 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
JBrowse link
Vesicoureteral Reflux 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124
JBrowse link
Vesicoureteral Reflux 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RETREG1 reticulophagy regulator 1 IAGP Neuropathy, sensory OMIA PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 More... NCBI chr 4:86,817,391...86,921,119 JBrowse link
Vesicoureteral Reflux 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Vesicoureteral reflux 8 OMIM
ClinVar
PMID:23620400 PMID:25741868 PMID:27657687 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14632
    disease of anatomical entity 14317
      Urogenital Diseases 4170
        urinary system disease 1944
          bladder disease 401
            Cystocele + 0
            Diabetic Cystopathy 3
            Overactive Urinary Bladder 12
            Panic Disorder with Bladder Conditions 0
            Urinary Bladder Fistula + 0
            Urinary Bladder Neoplasm + 265
            Urinary Bladder Reperfusion Injury 1
            bladder calculus + 1
            bladder diverticulum + 1
            bladder exstrophy 1
            bladder neck obstruction 13
            bladder tuberculosis 0
            congenital megabladder 1
            cystinuria + 7
            cystitis + 43
            detrusor sphincter dyssynergia 0
            female stress incontinence 1
            low compliance bladder 0
            neurogenic bladder + 5
            pelvic lipomatosis 0
            urinary schistosomiasis 4
            vesicoureteral reflux + 65
paths to the root