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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 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22077972 PMID:17922784 RGD:5133442 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
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 chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G NGF nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G RASSF1 Ras association domain family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RGS2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
JBrowse link
G RGS3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 9:113,444,730...113,597,738
Ensembl chr 9:113,444,731...113,597,743
JBrowse link
G RGS4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:163,068,871...163,076,802
Ensembl chr 1:163,068,775...163,076,802
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 chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VIP vasoactive intestinal peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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 IEP associated with urinary tract infection; RGD PMID:25398327 RGD:126779559 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
bladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMF1 polyamine modulated factor 1 disease_progression IDA RGD PMID:22682992 RGD:30296649 NCBI chr 1:156,213,007...156,240,042
Ensembl chr 1:156,212,993...156,240,042
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 IAGP ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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 IAGP ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868 PMID:31708116 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
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 IAGP ClinVar Annotator: match by term: Bladder exstrophy ClinVar PMID:28492532 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G TP63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IMP RGD PMID:21356374 RGD:7257709 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G ELN elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G MMP7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G OPTN optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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 IEP associated with schistosomiasis;protein:decreased expression:urothelium (human) RGD PMID:26916953 RGD:127285612 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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 IEP RGD PMID:29058301 RGD:13831338 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity IEP protein:increased expression:urothelial cells (human) RGD PMID:28507621 RGD:38500205 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G KDM6A lysine demethylase 6A susceptibility IAGP associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) RGD PMID:30352907 RGD:150429735 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
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 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:34906502 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:3351890 PMID:18414213 PMID:22366783 PMID:30143558 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility IAGP DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641
JBrowse link
G CDC5L cell division cycle 5 like IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr 6:44,387,706...44,450,425
Ensembl chr 6:44,387,706...44,450,425
JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr 1:147,172,747...147,295,762
Ensembl chr 1:147,242,654...147,295,765
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:31230195 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
JBrowse link
G DHX8 DEAH-box helicase 8 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr17:43,483,975...43,612,083
Ensembl chr17:43,483,865...43,610,338
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26942288 PMID:27657687 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552
JBrowse link
G EMC1-AS1 EMC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26942288 PMID:27657687 NCBI chr 1:19,210,386...19,240,704
Ensembl chr 1:19,210,355...19,240,704
JBrowse link
G ETV4 ETS variant transcription factor 4 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr17:43,527,846...43,546,340
Ensembl chr17:43,527,844...43,579,620
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 PMID:32475988 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:18671281 PMID:25741868 PMID:30143558 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GATA3 GATA binding protein 3 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GDF6 growth differentiation factor 6 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:29100090 PMID:30143558 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
JBrowse link
G HNF1B HNF1 homeobox B IAGP 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:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 More... NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HPSE2 heparanase 2 (inactive) IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:19669792 PMID:20560210 PMID:30143558 NCBI chr10:98,457,077...99,315,951
Ensembl chr10:98,457,077...99,235,862
JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LIFR LIF receptor subunit alpha IAGP
ISS
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar
MouseDO
PMID:25741868 PMID:28334964 PMID:28492532 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28381549 PMID:30143558 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:27657687 PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar PMID:25741868 PMID:28492532 PMID:30692597 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
G ROBO2 roundabout guidance receptor 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:17357069 PMID:18235093 PMID:22995991 PMID:23536131 PMID:24429398 More... NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G SIX2 SIX homeobox 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 PMID:28492532 PMID:32164334 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452
JBrowse link
G SLIT2 slit guidance ligand 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
JBrowse link
G TBX18 T-box transcription factor 18 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26235987 PMID:30143558 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598
JBrowse link
G TBX6 T-box transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:30143558 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TRAP1 TNF receptor associated protein 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP 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 chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:32891193 NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
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 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1
ClinVar
OMIM
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 More... NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
JBrowse link
G UPK3A uroplakin 3A IAGP ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar PMID:15888565 PMID:16731295 NCBI chr22:45,284,949...45,295,874
Ensembl chr22:45,284,949...45,295,874
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 IAGP DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G TBX18 T-box transcription factor 18 IAGP ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2
ClinVar
OMIM
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
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 IAGP ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 OMIM
ClinVar
PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
JBrowse link
congenital megabladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LINC00670 long intergenic non-protein coding RNA 670 IAGP ClinVar Annotator: match by term: Megabladder, congenital ClinVar PMID:31513549 NCBI chr17:12,549,968...12,637,187
Ensembl chr17:12,549,764...12,642,854
JBrowse link
G MYOCD myocardin IAGP ClinVar Annotator: match by term: Megabladder, congenital
ClinVar Annotator: match by term: MEGABLADDER, CONGENITAL
OMIM
ClinVar
PMID:25741868 PMID:31513549 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
JBrowse link
G MYOCD-AS1 MYOCD antisense RNA 1 IAGP ClinVar Annotator: match by term: Megabladder, congenital ClinVar PMID:31513549 NCBI chr17:12,671,862...12,706,135
Ensembl chr17:12,671,862...12,706,135
JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,195...214,664,571
JBrowse link
G CEP89 centrosomal protein 89 IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr19:32,875,925...32,971,958
Ensembl chr19:32,875,925...32,971,991
JBrowse link
G PREPL prolyl endopeptidase like IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 More... NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility IAGP DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar
OMIM
RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar
OMIM
RGD
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767
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 chr18:904,411...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ADCYAP1R1 ADCYAP receptor type I ISO mRNA:increased expression:urothelium, detrusor muscle (rat) RGD PMID:18563302 RGD:2315964 NCBI chr 7:31,052,308...31,111,474
Ensembl chr 7:31,052,308...31,111,479
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:20079809 PMID:9631447 RGD:5684910, RGD:8657090 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAT catalase ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CSF3 colony stimulating factor 3 ISO protein:increased expression:urinary bladder RGD PMID:18848347 RGD:2317284 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:urinary bladder urothelium RGD PMID:16651033 RGD:4891972 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:urinary bladder urothelium RGD PMID:16651033 RGD:4891972 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G ESR2 estrogen receptor 2 ISO protein:decreased expression:bladder RGD PMID:16894621 RGD:5508847 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G IL11 interleukin 11 EXP CTD Direct Evidence: therapeutic CTD PMID:17980069 NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:urine, bladder RGD PMID:18848347 RGD:2317284 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:urinary bladder RGD PMID:11948286 PMID:23000860 RGD:6907118, RGD:7175333 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:20860016 RGD:5147913 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:urine RGD PMID:18848347 RGD:2317284 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:21412823 RGD:5684428 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G LTA lymphotoxin alpha ISO mRNA:increased expression:urinary bladder RGD PMID:11948286 RGD:6907118 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MIF macrophage migration inhibitory factor ISO mRNA, protein:increased expression:nervous system RGD PMID:12853844 PMID:19066630 RGD:1642002, RGD:4890977 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MPO myeloperoxidase ISO protein:increased activity:bladder RGD PMID:19418724 RGD:7174704 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:17659847 RGD:7349345 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP RGD PMID:17659847 RGD:7349345 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G NGF nerve growth factor treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16889433 PMID:20127836 PMID:11350415 PMID:19996110 RGD:7242782, RGD:7242808, RGD:7242802 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor ISO protein, mRNA:increased expression:lumbosacral dorsal root ganglia (rat) RGD PMID:18189308 RGD:5508447 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:22432050 RGD:7248677 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:1267567 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:20860016 RGD:5147913 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20602232 RGD:5135058 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22099998 NCBI chr11:65,653,601...65,662,916
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:urinary bladder RGD PMID:26109091 RGD:11035303 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:17382773 RGD:2304340 NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
JBrowse link
G TLR5 toll like receptor 5 severity IAGP DNA:nonsense mutation:cds:p.R392X (human) RGD PMID:19543401 RGD:7246906 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,248
JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:urinary bladder RGD PMID:11948286 RGD:6907118 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23129268 RGD:10053664 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle RGD PMID:26370333 RGD:13782173 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
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 chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
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 chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592
JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384
JBrowse link
G PREPL prolyl endopeptidase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G SLC3A1 solute carrier family 3 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
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 IAGP DNA:polymorphism:cds:p.R16G (human) RGD PMID:12442007 RGD:7175285 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum RGD PMID:21284020 RGD:6907432 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF1 colony stimulating factor 1 treatment IDA RGD PMID:22441309 RGD:7241234 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:urine RGD PMID:18848347 RGD:2317284 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18957084 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18957084 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18957084 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:17522255 RGD:7364800 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G MKI67 marker of proliferation Ki-67 IEP RGD PMID:21166752 RGD:6483539 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MTOR mechanistic target of rapamycin kinase IEP RGD PMID:22738385 RGD:7245526 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NGF nerve growth factor treatment IEP
ISO
IDA
protein:increased expression:serum, urine RGD PMID:23028581 PMID:18162370 PMID:20227820 RGD:7242773, RGD:7242805, RGD:7242781 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:bladder RGD PMID:21179332 RGD:4891153 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:16622179 RGD:7245525 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP protein:increased expression:bladder, urine RGD PMID:22441309 RGD:7241234 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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 EXP CTD Direct Evidence: therapeutic CTD PMID:20624991 NCBI chr 7:136,868,652...137,020,213
Ensembl chr 7:136,868,652...137,020,255
JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:25741868 PMID:33217309 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
JBrowse link
G EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:28017373 PMID:32366537 PMID:33956416 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
JBrowse link
G NGF nerve growth factor treatment IEP
ISO
associated with Meningomyelocele;protein:increased expression:urine
associated with Spinal Cord Injuries
RGD PMID:23301927 PMID:22220508 RGD:7242771, RGD:7242776 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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 EXP CTD Direct Evidence: therapeutic CTD PMID:16322346 NCBI chr18:904,411...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:15576455 RGD:1625040 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:urine RGD PMID:19784793 RGD:7248423 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum RGD PMID:21284020 RGD:6907432 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15371886 NCBI chr 6:12,256,484...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G GJA1 gap junction protein alpha 1 ISO mRNA:increased expression:urinary bladder RGD PMID:17855776 RGD:7207474 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:urinary bladder RGD PMID:17855776 RGD:7207474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G NGF nerve growth factor treatment ISO
EXP
IDA
IEP
associated with Hypertension
CTD Direct Evidence: marker/mechanism
associated with Cystitis
associated with Cystitis;protein:increased expression:urine
protein:increased expression:serum
CTD
RGD
PMID:16600756 PMID:22473863 PMID:17050722 PMID:21605172 PMID:21717507 More... RGD:7242775, RGD:7242798, RGD:7242780, RGD:7242779, RGD:7242778 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Spinal Cord Injuries RGD PMID:28954467 RGD:13434913 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NRG1 neuregulin 1 treatment ISO RGD PMID:24152577 RGD:10449030 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G PENK proenkephalin treatment IDA RGD PMID:23316929 RGD:10003040 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671
JBrowse link
G TRPA1 transient receptor potential cation channel subfamily A member 1 ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:21367919 PMID:23523557 PMID:21367919 RGD:10043365 NCBI chr 8:72,021,250...72,090,010
Ensembl chr 8:72,019,917...72,075,584
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 IAGP ClinVar Annotator: match by term: Renal coloboma syndrome
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities
ClinVar
OMIM
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
urinary bladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase (Cartwright blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29644616 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression IEP protein:increased expression:urinary bladder RGD PMID:18190825 RGD:2291891 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type IEP protein:increased expression:urinary bladder RGD PMID:14532840 RGD:2315608 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
JBrowse link
G AMACR alpha-methylacyl-CoA racemase severity IDA RGD PMID:18648853 RGD:2315629 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G AMFR autocrine motility factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9241080 NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545
JBrowse link
G ANG angiogenin IEP protein:increased expression:plasma
protein:increased expression:urine
RGD PMID:15912517 PMID:15329320 RGD:2325700, RGD:2325704 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G ANPEP alanyl aminopeptidase, membrane EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr15:89,784,895...89,814,852
Ensembl chr15:89,784,895...89,815,401
JBrowse link
G ANXA2R annexin A2 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 5:43,039,371...43,043,247
Ensembl chr 5:43,039,233...43,043,170
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility IAGP RGD PMID:19041121 RGD:2315660 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23852168 PMID:27643540 NCBI chr22:38,982,347...38,992,779
Ensembl chr22:38,982,347...38,992,804
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596
JBrowse link
G AREG amphiregulin disease_progression IEP
ISO
mRNA:increased expression:urinary bladder RGD PMID:11507076 PMID:11133810 RGD:2292661, RGD:2292662 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G AS3MT arsenite methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094 NCBI chr10:102,869,470...102,901,899
Ensembl chr10:102,869,470...102,901,899
JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 8:130,052,104...130,443,674
Ensembl chr 8:130,052,104...130,443,674
JBrowse link
G ASXL2 ASXL transcriptional regulator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487
JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
JBrowse link
G ATP5MC2 ATP synthase membrane subunit c locus 2 IDA DNA:hypermethylation:promoter RGD PMID:26929985 RGD:14696811 NCBI chr12:53,665,170...53,681,423
Ensembl chr12:53,632,726...53,677,408
JBrowse link
G AURKA aurora kinase A disease_progression IEP mRNA, protein:increased expression:urinary bladder RGD PMID:18485461 RGD:2293871 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337
JBrowse link
G AXIN1 axin 1 susceptibility IAGP DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) RGD PMID:31143301 RGD:150527861 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BAX BCL2 associated X, apoptosis regulator IEP RGD PMID:18452128 RGD:2296023 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator severity IDA
IEP
DNA:hypermethylation:promoter RGD PMID:18094410 PMID:18342927 RGD:2293014, RGD:2292910 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression IEP RGD PMID:18342927 RGD:2292910 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12926068 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO
IEP
protein:increased expression:urinary bladder RGD PMID:18089718 PMID:17905101 RGD:2293094, RGD:2293096 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BPTF bromodomain PHD finger transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G BRCA1 BRCA1 DNA repair associated IDA DNA:hypermethylation:promoter RGD PMID:18094410 RGD:2293014 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CA9 carbonic anhydrase 9 disease_progression IEP RGD PMID:14520462 RGD:2293197 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
JBrowse link
G CALHM1 calcium homeostasis modulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr10:103,453,240...103,458,900
Ensembl chr10:103,453,240...103,458,900
JBrowse link
G CASP3 caspase 3 disease_progression IEP RGD PMID:17267327 RGD:2298949 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP9 caspase 9 disease_progression
susceptibility
IAGP DNA:SNP:exon:p.Q221R (rs1052576) (human)
DNA:polymorphism, deletion: :1263A>G, 293del (human)
RGD PMID:19252927 PMID:19412632 RGD:2315930, RGD:2315929 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAV1 caveolin 1 severity IEP protein:increased expression:urinary bladder RGD PMID:12866378 RGD:2289110 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CBX7 chromobox 7 severity IEP mRNA:decreased expression:urinary bladder (human) RGD PMID:18984978 RGD:9587361 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680
JBrowse link
G CCND1 cyclin D1 IEP protein:increased expression:bladder RGD PMID:12372886 RGD:13602096 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCND3 cyclin D3 disease_progression IEP RGD PMID:16482499 RGD:2316012 NCBI chr 6:41,934,933...42,048,894
Ensembl chr 6:41,934,934...42,050,357
JBrowse link
G CCNE1 cyclin E1 disease_progression
severity
IEP
EXP
protein:decreased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20972438 PMID:27514407 PMID:18047954 PMID:16739882 RGD:2296035, RGD:2289267 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CCNG1 cyclin G1 IEP mRNA:decreased expression:bladder (human) RGD PMID:27982046 RGD:151361200 NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,446,151
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16361570 RGD:7248437 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD44 CD44 molecule (Indian blood group) IEP RGD PMID:16321281 RGD:2289357 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CD82 CD82 molecule disease_progression IEP protein:decreased expression:urinary bladder RGD PMID:14706010 PMID:17290345 RGD:2289401, RGD:2289391 NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,358
JBrowse link
G CD9 CD9 molecule disease_progression IEP RGD PMID:14534881 RGD:2326207 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
JBrowse link
G CDC25A cell division cycle 25A IDA RGD PMID:17145867 RGD:2715645 NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
JBrowse link
G CDC25B cell division cycle 25B disease_progression IEP RGD PMID:19383904 RGD:2739695 NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
JBrowse link
G CDH1 cadherin 1 disease_progression IEP
EXP
ISO
protein:decreased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
Protein:increased expression:cytoplasm
CTD
RGD
PMID:17520682 PMID:26901067 PMID:17760743 PMID:17167984 RGD:2289491, RGD:1599549 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDH13 cadherin 13 IDA DNA:hypermethylation:promoter RGD PMID:18094410 RGD:2293014 NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640
JBrowse link
G CDK1 cyclin dependent kinase 1 IMP RGD PMID:17145867 RGD:2715645 NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO
IAGP
protein:increased expression:urinary bladder
DNA:amplification
RGD PMID:16896691 PMID:11971182 RGD:2289144, RGD:2299056 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18640142 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression
susceptibility
IEP
ISO
RGD PMID:18334837 PMID:18027869 RGD:2293592, RGD:2293595 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IDA
EXP
IAGP
IEP
DNA:hypermethylation:promoter
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:deletion
protein:increased expression:urinary bladder
CTD
RGD
PMID:12973940 PMID:15987713 PMID:17119258 PMID:15897688 PMID:18234280 RGD:2296052, RGD:2289687, RGD:2296048 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression IAGP DNA:deletion:urinary bladder RGD PMID:15590562 PMID:16624482 RGD:2289696, RGD:7248757 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility
treatment
IAGP
ISO
DNA:mutations: :multiple RGD PMID:17918154 PMID:21396995 RGD:2289704, RGD:10401655 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CLPTM1L CLPTM1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
JBrowse link
G COMT catechol-O-methyltransferase IEP protein:increased expression:urinary bladder, urine RGD PMID:15596044 RGD:2289726 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:7525883 PMID:17515069 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression IEP RGD PMID:17760743 RGD:2289491 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G CTNNB1 catenin beta 1 disease_progression IEP
ISS
OMIM:109800 MouseDO
RGD
PMID:17175927 RGD:2289829 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CTSB cathepsin B IEP protein:increased activity:transitional cell carcinoma (human) RGD PMID:15183956 RGD:2315615 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22015448 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP DNA:SNP RGD PMID:19252927 RGD:2315930 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:17406000 RGD:7257712 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 no_association IEP
IAGP
DNA:polymorphisms: :3801T>C (human)
DNA:polymorphism: :2455A>G (human)
RGD PMID:21990318 PMID:18200441 PMID:18979064 RGD:7257730, RGD:7257736, RGD:7257733 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IEP RGD PMID:21990318 RGD:7257730 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 IAGP RGD PMID:16985032 RGD:6903918 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
JBrowse link
G CYP4B1 cytochrome P450 family 4 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18713828 NCBI chr 1:46,799,046...46,819,413
Ensembl chr 1:46,757,838...46,819,413
JBrowse link
G DAPK1 death associated protein kinase 1 IDA DNA:hypermethylation RGD PMID:12124340 RGD:734875 NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634
JBrowse link
G DNMT1 DNA methyltransferase 1 IEP protein:increased expression RGD PMID:14634451 RGD:2301220 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DUSP1 dual specificity phosphatase 1 disease_progression IEP RGD PMID:17690186 RGD:2298694 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G E2F1 E2F transcription factor 1 disease_progression IEP mRNA:increased expression:bladder RGD PMID:20421545 RGD:13602004 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 disease_progression IEP protein:decreased expression:urothelium: RGD PMID:24917520 RGD:10401219 NCBI chr 6:8,073,360...8,102,548
Ensembl chr 6:8,073,360...8,102,559
JBrowse link
G EGFR epidermal growth factor receptor disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism
protein:increased expression:urinary bladder
CTD
RGD
PMID:11723127 PMID:23523951 PMID:16685269 PMID:18006009 RGD:2298502, RGD:2289943 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENO2 enolase 2 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22613180 PMID:17951193 RGD:2293738 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G EOMES eomesodermin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPHX1 epoxide hydrolase 1 disease_progression IAGP DNA:SNPs RGD PMID:19252927 RGD:2315930 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression IEP
EXP
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:34291863 PMID:16685269 PMID:16771730 RGD:2298502, RGD:2289934 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression IEP RGD PMID:16685269 RGD:2298502 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression IEP protein:decreased expression:urinary bladder RGD PMID:16685269 PMID:18006009 RGD:2298502, RGD:2289943 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24121791 PMID:27111033 PMID:25316812 RGD:11252208 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062074 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ESPL1 extra spindle pole bodies like 1, separase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121792 NCBI chr12:53,268,299...53,293,638
Ensembl chr12:53,268,299...53,293,638
JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16712894 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 severity IEP
EXP
protein:increased expression:urinary bladder urothelium (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16700038 PMID:23612777 RGD:7364758 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP mRNA:increased expression:urinary bladder RGD PMID:21539681 RGD:126781700 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G F2 coagulation factor II, thrombin severity IEP protein:increased expression:urine RGD PMID:22236518 RGD:6893573 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FANCA FA complementation group A IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24121791 PMID:19237606 RGD:11344902 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
EXP
DNA:polymorphisms:promoter:-1377G>A,-670A>G
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9070496 PMID:16538171 RGD:2290063 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand susceptibility IAGP DNA:polymorphisms:promoter:-844T>C RGD PMID:16538171 RGD:2290063 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FBXW8 F-box and WD repeat domain containing 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr12:116,910,950...117,031,148
Ensembl chr12:116,910,950...117,031,148
JBrowse link
G FERMT2 FERM domain containing kindlin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21624607 NCBI chr14:52,857,273...52,951,050
Ensembl chr14:52,857,268...52,952,435
JBrowse link
G FGF1 fibroblast growth factor 1 IMP RGD PMID:11908679 RGD:2290291 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF2 fibroblast growth factor 2 IMP RGD PMID:11908679 RGD:2290291 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R
DNA:hypermethylation, loss of heterozygosity, deletions:exon (human)
RGD PMID:16969861 PMID:10602477 RGD:2289664, RGD:2301193 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity
disease_progression
IAGP
EXP
IMP
IEP
DNA:missense mutations:CDS:somatic mutations found in 9/26 (35%) of bladder carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
ClinVar Annotator: match by term: Urinary bladder cancer
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
DNA:mutations
protein:increased expression:urinary bladder
ClinVar
CTD
OMIM
RGD
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... RGD:2289864, RGD:2301223, RGD:2301222, RGD:2301225, RGD:2301224 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IDA
ISO
DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival
protein:decreased expression:urinary bladder
associated with Schistosomiasis;DNA:hypermethylation:urinary bladder
RGD PMID:11751381 PMID:15591090 PMID:15154012 RGD:2289897, RGD:2301232, RGD:2301233 NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
JBrowse link
G FN1 fibronectin 1 IEP protein:increased expression:urine RGD PMID:20012564 RGD:7205680 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GGH gamma-glutamyl hydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19815704 NCBI chr 8:63,015,079...63,038,806
Ensembl chr 8:63,014,881...63,039,407
JBrowse link
G GLI1 GLI family zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20179202 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GPX1 glutathione peroxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15247771 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP
EXP
DNA:deletion: : (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18505952 PMID:20972438 PMID:18544563 RGD:6906879 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTO2 glutathione S-transferase omega 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr10:104,269,184...104,304,950
Ensembl chr10:104,268,873...104,304,950
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP
EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:urinary bladder
CTD
RGD
PMID:7729958 PMID:12500666 PMID:22306368 PMID:18544563 PMID:21213404 More... RGD:6906879, RGD:10401939, RGD:6906883 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion: : (human) RGD PMID:18544563 RGD:6906879
G GSTZ1 glutathione S-transferase zeta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22306368 NCBI chr14:77,321,036...77,331,597
Ensembl chr14:77,320,996...77,331,597
JBrowse link
G H19 H19 imprinted maternally expressed transcript IMP
IAGP
ISO
DNA:hypomethylation
DNA:SNP
mRNA:increased expression:urinary bladder
RGD PMID:18950807 PMID:11726548 PMID:18262338 PMID:9886562 RGD:2306168, RGD:2306180, RGD:2306171, RGD:2306184 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G HDAC4 histone deacetylase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21507255 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HK1 hexokinase 1 treatment ISO RGD PMID:23893687 RGD:11353960 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HMBS hydroxymethylbilane synthase IEP urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) RGD PMID:16600798 RGD:2301681 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G HMGB3 high mobility group box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30639441 NCBI chr  X:150,980,507...150,990,771
Ensembl chr  X:150,980,509...150,990,771
JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22109888 NCBI chr  X:81,113,699...81,201,913
Ensembl chr  X:81,113,699...81,201,913
JBrowse link
G HOXA9 homeobox A9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26332997 NCBI chr 7:27,162,438...27,165,537
Ensembl chr 7:27,162,438...27,175,180
JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression IEP
IAGP
EXP
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Urinary bladder cancer
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2228319 PMID:2278634 PMID:2999610 PMID:3537694 PMID:6092966 More... RGD:2314833, RGD:11060144 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A treatment IMP RGD PMID:19914824 RGD:7242743 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17172406 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IFNB1 interferon beta 1 EXP CTD Direct Evidence: therapeutic CTD PMID:2297754 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G IFNG interferon gamma treatment IEP
ISO
protein:decreased expression:serum RGD PMID:22906662 PMID:11219496 RGD:6893349, RGD:8157619 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19415693 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP
EXP
protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21347663 PMID:12544349 RGD:2290028 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
JBrowse link
G IGSF21 immunoglobin superfamily member 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 1:18,107,798...18,378,483
Ensembl chr 1:18,107,798...18,378,483
JBrowse link
G IL1B interleukin 1 beta disease_progression IEP mRNA:increased expression:urinary bladder tumor (human) RGD PMID:21308147 RGD:7175327 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
DNA:repeats:intron:IVS2+914_1000dup multiple (human)
RGD PMID:19489682 PMID:16698387 RGD:6907081, RGD:6907367 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2 interleukin 2 treatment IDA
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:1949363 PMID:3495671 PMID:3262172 RGD:8663471 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G INPP4B inositol polyphosphate-4-phosphatase type II B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29415082 NCBI chr 4:142,023,160...142,846,535
Ensembl chr 4:142,023,160...142,847,432
JBrowse link
G ISL1 ISL LIM homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26332997 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
JBrowse link
G JUP junction plakoglobin disease_progression
severity
ISO
IEP
DNA, protein:mutations, increased expression:urinary bladder
protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001)
protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)
RGD PMID:11585741 PMID:17363521 PMID:9783980 RGD:2301748, RGD:2289818, RGD:2291880 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KDM4A lysine demethylase 4A IEP mRNA:increased expression:urinary bladder (human) RGD PMID:23603248 RGD:9587435 NCBI chr 1:43,650,149...43,705,518
Ensembl chr 1:43,650,149...43,705,518
JBrowse link
G KDM4B lysine demethylase 4B IEP mRNA, protein:increased expression:urinary bladder (human) RGD PMID:21930796 RGD:9587740 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
JBrowse link
G KDM5B lysine demethylase 5B IEP mRNA:increased expression:urinary bladder (human) RGD PMID:20226085 RGD:9587778 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
JBrowse link
G KDM6A lysine demethylase 6A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KDR kinase insert domain receptor severity IEP
IMP
protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119) RGD PMID:12940780 PMID:12215294 RGD:2291949, RGD:2301758 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KISS1 KiSS-1 metastasis suppressor IEP mRNA:decreased expression:tumor:loss of expression in all invasive tumors vs normal urothelium, ecpression also associated with histological stage and overall survival RGD PMID:12547718 RGD:2292136 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining) RGD PMID:15502806 RGD:2292430 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KLF5 Kruppel like factor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27514407 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
JBrowse link
G KMT2A lysine methyltransferase 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KMT2D lysine methyltransferase 2D EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
EXP
transitional cell bladder carcinoma, OMIM:109800 DNA:point_mutation:CDS:amino acid Ala59Thr
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic
CTD
OMIM
ClinVar
RGD
PMID:1553789 PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1600467 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT16 keratin 16 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20186695 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT5 keratin 5 ISO RGD PMID:7507402 RGD:1600196 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LAMA2 laminin subunit alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LIG1 DNA ligase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr19:48,115,445...48,170,344
Ensembl chr19:48,115,445...48,170,603
JBrowse link
G LOXL1 lysyl oxidase like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17456585 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137
JBrowse link
G LOXL4 lysyl oxidase like 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17456585 NCBI chr10:98,247,690...98,268,194
Ensembl chr10:98,247,690...98,268,194
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar Annotator: match by term: Bladder cancer
ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MAGEA9 MAGE family member A9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17290406 NCBI chr  X:149,781,877...149,787,737
Ensembl chr  X:149,781,930...149,787,737
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 IAGP RGD PMID:15665277 RGD:2306057 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAPK15 mitogen-activated protein kinase 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458
JBrowse link
G MDM2 MDM2 proto-oncogene severity IEP mRNA:increased expression:bladder RGD PMID:27798881 RGD:13602098 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase susceptibility IAGP DNA:polymorphisms:cds:p.L53L, p.L84F (human) RGD PMID:15885889 RGD:2317672 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR100 microRNA 100 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr11:122,152,229...122,152,308
Ensembl chr11:122,152,229...122,152,308
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR152 microRNA 152 severity IEP miRNA:decreased expression:urinary bladder RGD PMID:30015946 RGD:19165141 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR186 microRNA 186 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 1:71,067,631...71,067,716
Ensembl chr 1:71,067,631...71,067,716
JBrowse link
G MIR29C microRNA 29c EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
JBrowse link
G MIR33B microRNA 33b EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr17:17,813,836...17,813,931
Ensembl chr17:17,813,836...17,813,931
JBrowse link
G MIR34B microRNA 34b EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr11:111,512,938...111,513,021
Ensembl chr11:111,512,938...111,513,021
JBrowse link
G MIR4324 microRNA 4324 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr19:49,308,797...49,308,868
Ensembl chr19:49,308,797...49,308,868
JBrowse link
G MIR532 microRNA 532 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30639441 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238
JBrowse link
G MIR99A microRNA 99a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:urinary bladder RGD PMID:20367636 RGD:2317708 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MLH1 mutL homolog 1 disease_progression IEP RGD PMID:15296997 RGD:2293518 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MMP1 matrix metallopeptidase 1 severity IAGP
IEP
DNA:insertion:promoter:g.-1607insG (human)
protein:increased expression:urine (human)
RGD PMID:17986285 PMID:11705862 RGD:7207077, RGD:7207140 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP13 matrix metallopeptidase 13 IEP urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors RGD PMID:11054671 RGD:2293609 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30548095 PMID:17466450 RGD:2290395 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30548095 PMID:17466450 RGD:2290395 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:14729580 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease susceptibility IAGP DNA:snp:3' utr:c.2501A>G rs2155209 (human)
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar
RGD
PMID:28492532 PMID:18638378 RGD:2317733 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
JBrowse link
G MSH2 mutS homolog 2 disease_progression IEP
IAGP
protein:decreased expression:urinary bladder
DNA:mutations: :multiple
associated with Lynch syndrome
RGD PMID:18254781 PMID:26385421 PMID:22883484 PMID:18389386 RGD:2293503, RGD:126790580, RGD:126790557, RGD:2293502 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 disease_progression IEP protein:decreased expression:urinary bladder RGD PMID:18254781 RGD:2293503 NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP DNA:deletion: :(human) RGD PMID:15254717 RGD:2302294 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP DNA:deletion:cds RGD PMID:18245469 RGD:2298953 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP DNA:deletion: :(human) RGD PMID:15254717 RGD:2302294 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT1A metallothionein 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16565513 NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
JBrowse link
G MT2A metallothionein 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:7729958 PMID:16565513 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MT3 metallothionein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16854967 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association
IAGP
EXP
DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
protein:missense mutation:cds:p.A222V (human)
DNA:transversion:cds:g.1298A>C (human)
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
CTD
RGD
PMID:22747749 PMID:22126575 PMID:17311259 PMID:19837268 PMID:20146887 RGD:6893457, RGD:6893597, RGD:6893521, RGD:6893516 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:19261747 RGD:10040979 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:polymorphism: :2756A>G(human) RGD PMID:19837268 RGD:6893521 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum: RGD PMID:10468735 RGD:7245967 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP DNA:repeats RGD PMID:19191526 RGD:7349339 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility
disease_progression
IAGP
EXP
IEP
ISO
DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:urinary bladder urothelium (human)
CTD
RGD
PMID:2228319 PMID:23284801 PMID:20939013 PMID:22028816 RGD:7207401, RGD:7207427, RGD:7207418 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NAT1 N-acetyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16003747 NCBI chr 8:18,170,467...18,223,689
Ensembl chr 8:18,170,477...18,223,689
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10022756 PMID:15717312 PMID:18505952 PMID:20972438 PMID:24221535 More... RGD:8552670 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCAN neurocan EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr19:19,211,958...19,252,233
Ensembl chr19:19,211,958...19,252,233
JBrowse link
G NCOR1 nuclear receptor corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21822268 NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,157...16,218,185
JBrowse link
G NCSTN nicastrin ISS OMIM:109800 MouseDO NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,316...160,358,952
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29321541 NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase TAS RGD PMID:17726579 RGD:2302550 NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,660
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 IEP mRNA:increased expression:urinary bladder RGD PMID:7614395 RGD:2299071 NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 IEP mRNA:increased expression:urinary bladder RGD PMID:7614395 RGD:2299071 NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744
JBrowse link
G NOS3 nitric oxide synthase 3 IEP protein:increased expression:urinary bladder RGD PMID:10475345 RGD:2292089 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8631603 PMID:21213404 RGD:10401939 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NRSN1 neurensin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 6:24,126,215...24,147,530
Ensembl chr 6:24,126,186...24,154,900
JBrowse link
G OR8S1 olfactory receptor family 8 subfamily S member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr12:48,525,632...48,526,570
Ensembl chr12:48,525,632...48,526,570
JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25783786 NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809
JBrowse link
G PHB1 prohibitin 1 ISO mRNA:increased expression:urinary bladder RGD PMID:8062216 RGD:2292407 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905
JBrowse link
G PLAU plasminogen activator, urokinase treatment ISO
IEP
IAGP
protein:increased expression:urinary bladder (human)
DNA:snp:3' utr:g.4065C>T (human)
RGD PMID:19010488 PMID:18336603 PMID:16825821 RGD:4144867, RGD:7241213, RGD:7241144 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PLK1 polo like kinase 1 severity IEP
IMP
RGD PMID:16837776 PMID:15761500 RGD:2299938, RGD:2299940 NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367
JBrowse link
G PMF1 polyamine modulated factor 1 disease_progression IDA RGD PMID:19088041 RGD:30296651 NCBI chr 1:156,213,007...156,240,042
Ensembl chr 1:156,212,993...156,240,042
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component susceptibility IAGP DNA:SNP: :rs6463524 (human) RGD PMID:19692168 RGD:2315025 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G POLB DNA polymerase beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808
JBrowse link
G POR cytochrome p450 oxidoreductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8631603 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:decreased expression:urinary bladder RGD PMID:18712722 RGD:2301870 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:29275364 NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142
JBrowse link
G PRDM2 PR/SET domain 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 1:13,700,188...13,825,079
Ensembl chr 1:13,700,188...13,825,079
JBrowse link
G PRKCA protein kinase C alpha severity
disease_progression
IEP protein:increased expression:urinary bladder
protein:altered localization:urinary bladder
RGD PMID:16008942 PMID:15922420 RGD:2292455, RGD:2298669 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
JBrowse link
G PRSS3 serine protease 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15987713 NCBI chr 9:33,750,679...33,799,231
Ensembl chr 9:33,750,679...33,799,231
JBrowse link
G PSCA prostate stem cell antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:19648920 PMID:20083643 NCBI chr 8:142,670,297...142,682,725
Ensembl chr 8:142,670,308...142,682,725
JBrowse link
G PSMB2 proteasome 20S subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 1:35,599,541...35,641,526
Ensembl chr 1:35,599,541...35,641,526
JBrowse link
G PTEN phosphatase and tensin homolog disease_progression IAGP
ISS
IEP
DNA:mutations: :multiple
OMIM:109800
protein:decreased expression:urinary bladder
MouseDO
RGD
PMID:9671402 PMID:18190825 RGD:2292515, RGD:2291891 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression
susceptibility
ISO
EXP
IEP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNP:3' utr:837T>C (human)
CTD
RGD
PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 More... RGD:2300200, RGD:5508302, RGD:2300127 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RAB27A RAB27A, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
JBrowse link
G RAB27B RAB27B, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr18:54,717,857...54,895,516
Ensembl chr18:54,717,860...54,895,516
JBrowse link
G RALBP1 ralA binding protein 1 IEP mRNA, protein:increased expression:urinary bladder RGD PMID:17606711 RGD:2324917 NCBI chr18:9,475,009...9,538,114
Ensembl chr18:9,475,009...9,538,114
JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 9:126,914,782...127,223,166
Ensembl chr 9:126,914,774...127,223,166
JBrowse link
G RASSF1 Ras association domain family member 1 IDA
EXP
TAS
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15987713 PMID:18702824 PMID:12222680 RGD:2299860, RGD:2291977 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RB1 RB transcriptional corepressor 1 disease_progression IEP
IAGP
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar
OMIM
RGD
PMID:1352883 PMID:2181449 PMID:7881418 PMID:9632788 PMID:9671401 More... RGD:2299888 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression IEP
ISO
RGD PMID:18188593 PMID:18089718 RGD:2298753, RGD:2293094 NCBI chr11:65,653,601...65,662,916
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G RETN resistin IEP protein:increased expression:urine RGD PMID:18373357 RGD:7207154 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RHOA ras homolog family member A disease_progression IEP
EXP
protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19896475 PMID:12855641 RGD:2298872 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 IEP mRNA:increased expression:bladder (human) RGD PMID:21139803 RGD:5133688 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G RUNX3 RUNX family transcription factor 3 IAGP DNA:promoter:aberrant methylation RGD PMID:16230397 RGD:2302553 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G S100A8 S100 calcium binding protein A8 IEP mRNA:increased expression:urinary bladder RGD PMID:17970044 RGD:2316906 NCBI chr 1:153,390,032...153,422,583
Ensembl chr 1:153,390,032...153,391,073
JBrowse link
G S100A9 S100 calcium binding protein A9 IEP mRNA:increased expression:urinary bladder RGD PMID:17970044 RGD:2316906 NCBI chr 1:153,357,854...153,361,023
Ensembl chr 1:153,357,854...153,361,023
JBrowse link
G S100B S100 calcium binding protein B IEP mRNA:decreased expression:urinary bladder urothelium RGD PMID:17970044 RGD:2316906 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G SERPINE1 serpin family E member 1 IDA RGD PMID:19010488 RGD:4144867 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFN stratifin disease_progression IEP protein:increased expression:urothelium (human) RGD PMID:17645415 RGD:2299928 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G SLC11A1 solute carrier family 11 member 1 disease_progression IAGP DNA:repeat, polymorphism:promoter, cds:p.D543N (human) RGD PMID:16516037 RGD:5684951 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SLC12A7 solute carrier family 12 member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21760912 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:15548366 RGD:2299964 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD4 SMAD family member 4 IEP protein:decreased expression:urinary bladder RGD PMID:11783019 RGD:2299972 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMC1A structural maintenance of chromosomes 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SMC1B structural maintenance of chromosomes 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121791 NCBI chr22:45,344,063...45,413,599
Ensembl chr22:45,344,063...45,413,619
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 disease_progression IDA DNA:hypermethylation
DNA:hypermethylation:promoter
RGD PMID:17522834 PMID:16242928 RGD:2298903, RGD:2298906 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOD2 superoxide dismutase 2 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14729580 PMID:18930813 PMID:17974967 RGD:7175539 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX2 SRY-box transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29396848 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX4 SRY-box transcription factor 4 IDA RGD PMID:16585165 RGD:1581304 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G SPARC secreted protein acidic and cysteine rich disease_progression IEP RGD PMID:11696817 PMID:17149610 RGD:2300024, RGD:2300021 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 disease_progression IEP mRNA, protein:decreased expression:urinary bladder RGD PMID:16327984 RGD:2300384 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G SPP1 secreted phosphoprotein 1 IEP RGD PMID:21483670 RGD:6903265 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11723127 PMID:17093206 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 IEP mRNA:increased expression:urinary bladder epithelium (human) RGD PMID:22178073 RGD:11040443 NCBI chr12:120,461,672...120,469,748
Ensembl chr12:120,461,672...120,469,748
JBrowse link
G STAG2 stromal antigen 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121789 PMID:24121791 PMID:24121792 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 IAGP 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 chr16:28,605,258...28,623,375
Ensembl chr16:28,603,944...28,623,625
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121792 NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171
JBrowse link
G TERC telomerase RNA component disease_progression IEP RNA:increased expression:urinary bladder
RNA:increased expression:urine
RGD PMID:16104909 PMID:17644139 RGD:2291967, RGD:2291986 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IDA
EXP
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19151717 PMID:17644139 RGD:2291986 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFF1 trefoil factor 1 IEP protein:increased expression:urinary bladder RGD PMID:18283638 RGD:2291996 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IMP RGD PMID:9363992 RGD:2302036 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G THBS1 thrombospondin 1 severity IEP protein:decreased expression:bladder RGD PMID:20299037 RGD:13602099 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression IEP
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:30548095 PMID:17374529 PMID:17466450 RGD:2298521, RGD:2290395 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IDA DNA:hypermethylation:promoter RGD PMID:18082200 RGD:2290411 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TLR2 toll like receptor 2 IAGP DNA:deletion:promoter:−196_−174del (human) RGD PMID:23142523 RGD:7207893 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 treatment ISO RGD PMID:19788935 RGD:7240556 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 IDA DNA:hypermethylation:promoter RGD PMID:16234815 RGD:2290489 NCBI chr 2:191,949,046...192,194,933
Ensembl chr 2:191,949,043...192,194,933
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:1674182 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a IAGP DNA:missense mutation:cds:p.E228A (c.683A>C) (human) RGD PMID:16217763 RGD:11038717 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G TOP2A DNA topoisomerase II alpha disease_progression IEP RGD PMID:19913893 RGD:2315121 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP53 tumor protein p53 disease_progression IEP
EXP
ISO
protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9610789 PMID:11376694 PMID:12376482 PMID:12706858 PMID:15906354 More... RGD:2290536 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP63 tumor protein p63 disease_progression IEP RGD PMID:19690775 RGD:2315430 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TP73 tumor protein p73 disease_progression IEP mRNA:increased expression:urinary bladder RGD PMID:10383132 RGD:2291836 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19502594 NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 More... NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11103787 PMID:15841086 PMID:16937303 RGD:2293716 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G TYMS thymidylate synthetase ISO RGD PMID:18463958 RGD:2317413 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I IEP 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 chr16:1,309,152...1,327,017
Ensembl chr16:1,308,880...1,327,018
JBrowse link
G UGT2B7 UDP glucuronosyltransferase family 2 member B7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15615884 NCBI chr 4:69,051,375...69,112,987
Ensembl chr 4:69,051,363...69,112,987
JBrowse link
G USP7 ubiquitin specific peptidase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA:increased expression:bladder RGD PMID:22895562 RGD:13605607 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VEGFC vascular endothelial growth factor C disease_progression IEP RGD PMID:17094484 RGD:2315482 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
JBrowse link
G VEGFD vascular endothelial growth factor D disease_progression IEP RGD PMID:17970053 RGD:2315479 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO mRNA:decreased expression:urinary bladder RGD PMID:19399409 RGD:2325183 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
G VWA3A von Willebrand factor A domain containing 3A EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr16:22,092,541...22,156,964
Ensembl chr16:22,092,538...22,156,964
JBrowse link
G WIF1 WNT inhibitory factor 1 disease_progression IDA
IEP
DNA:hypermethylation:promoter
protein:decreased expression:urinary bladder
RGD PMID:18325051 PMID:14517837 RGD:2291868, RGD:727214 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305
JBrowse link
G WNT7B Wnt family member 7B IEP mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003) RGD PMID:9461004 RGD:2299932 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
JBrowse link
G XDH xanthine dehydrogenase IDA protein:decreased activity:urinary bladder RGD PMID:20087949 RGD:7247647 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
IAGP DNA:polymorphism: :p.R399Q
DNA:SNP: p.R399Q (human)
DNA:polymorphisms: :multiple
RGD PMID:18765423 PMID:18272472 PMID:17425776 RGD:2302568, RGD:150530493, RGD:2302572 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
G YJEFN3 YjeF N-terminal domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26039340 NCBI chr19:19,528,911...19,537,581
Ensembl chr19:19,528,861...19,537,581
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 IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Urinary Bladder Neoplasms ClinVar PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10227394 More... NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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 chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
urinary schistosomiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule IEP protein:increased expression:B cell (human) RGD PMID:22347409 RGD:127345101 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:SNPs:multiple:Gabonese(human) RGD PMID:22288822 RGD:7204674 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G IL5 interleukin 5 resistance IEP RGD PMID:9697734 RGD:7241010 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G STAT6 signal transducer and activator of transcription 6 severity IAGP DNA:SNP:enhancer: (rs324013) RGD PMID:18273035 RGD:7243977 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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 IAGP ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr10:114,280,725...114,405,175
Ensembl chr10:114,294,824...114,404,756
JBrowse link
G AGTR1 angiotensin II receptor type 1 IEP RGD PMID:11819209 RGD:6903866 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 no_association IAGP
IEP
DNA:transition:intron:-1332A>G (human) RGD PMID:12187255 PMID:11819209 PMID:15470205 RGD:6903860, RGD:6903866, RGD:6903853 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G CSF1 colony stimulating factor 1 IEP RGD PMID:12110011 RGD:7257580 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 IEP RGD PMID:23200959 RGD:7245478 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A IEA OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 MouseDO NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
JBrowse link
G IFNG interferon gamma IAGP DNA:polymorphism: : 874T>A (human) RGD PMID:22906585 RGD:6893460 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP RGD PMID:14760498 RGD:7242902 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:25741868 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G ROBO2 roundabout guidance receptor 2 IAGP
IEA
ClinVar Annotator: match by term: Vesicoureteral reflux
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
ClinVar
MouseDO
PMID:28492532 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
JBrowse link
G SOX17 SRY-box transcription factor 17 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
CTD
ClinVar
PMID:25741868 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G TNXB tenascin XB EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G UPK3A uroplakin 3A ISS OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 MouseDO NCBI chr22:45,284,949...45,295,874
Ensembl chr22:45,284,949...45,295,874
JBrowse link
G VWA2 von Willebrand factor A domain containing 2 IAGP ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr10:114,239,254...114,294,500
Ensembl chr10:114,239,254...114,294,489
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 IAGP ClinVar Annotator: match by term: Vesicoureteral reflux 2 ClinVar
OMIM
PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 PMID:23536131 More... NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
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 IAGP ClinVar Annotator: match by term: Vesicoureteral reflux 3 ClinVar
OMIM
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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 ISO Neuropathy, sensory OMIA PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 More... NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
Vesicoureteral Reflux 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106780803 tenascin XB recombination region IAGP ClinVar Annotator: match by term: Vesicoureteral reflux 8 ClinVar PMID:25741868 PMID:27657687 NCBI chr 6:32,041,608...32,046,122 JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Vesicoureteral reflux 8 ClinVar
OMIM
PMID:23620400 PMID:25741868 PMID:27657687 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21668
    disease of anatomical entity 20318
      Urogenital Diseases 5233
        urinary system disease 2224
          bladder disease 430
            Cystocele + 0
            Diabetic Cystopathy 3
            Overactive Urinary Bladder 12
            Panic Disorder with Bladder Conditions 0
            Urinary Bladder Fistula + 0
            Urinary Bladder Neoplasm + 288
            Urinary Bladder Reperfusion Injury 1
            bladder calculus + 1
            bladder diverticulum + 1
            bladder exstrophy 2
            bladder neck obstruction 13
            bladder tuberculosis 0
            congenital megabladder 3
            cystinuria + 7
            cystitis + 44
            detrusor sphincter dyssynergia 0
            female stress incontinence 1
            low compliance bladder 0
            neurogenic bladder + 5
            pelvic lipomatosis 0
            urinary schistosomiasis 4
            vesicoureteral reflux + 68
paths to the root