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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:ureteral disease
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Accession:DOID:1426 term browser browse the term
Definition:A urinary system disease that is located_in the ureter. (DO)
Synonyms:exact_synonym: ureteral diseases
 primary_id: MESH:D014515
 xref: NCI:C27148
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 susceptibility ISO ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246 		JBrowse link
CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:34906502 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:3351890 PMID:13680526 PMID:18414213 PMID:22366783 PMID:25052316 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 4:10,735,307...11,006,650
Ensembl chr 4:10,735,306...11,066,274 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G CDC5L cell division cycle 5 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:31230195 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215 		JBrowse link
G DHX8 DEAH-box helicase 8 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,734,356...19,766,212
Ensembl chr 9:19,729,816...19,766,555 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26572623 PMID:26942288 PMID:27657687 PMID:28492532 PMID:29271071 NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314 		JBrowse link
G ETV4 ETS variant transcription factor 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,715,259...19,731,085
Ensembl chr 9:19,715,535...19,730,456 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 PMID:32475988
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:12766769 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 More... NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:24700879 PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456 		JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760 		JBrowse link
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:29100090 PMID:30143558 NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013 		JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 More... NCBI chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993 		JBrowse link
G HPSE2 heparanase 2 (inactive) ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:19669792 PMID:20560210 PMID:25510506 PMID:27151922 PMID:28492532 More... NCBI chr28:11,584,440...12,215,732
Ensembl chr28:11,585,807...12,215,614 		JBrowse link
G HSP70 heat shock protein 70 ISO DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr12:1,285,282...1,287,670 JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490 		JBrowse link
G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:26627873 PMID:28334964 PMID:28492532 PMID:34063511 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28381549 PMID:30143558 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:29641532 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30692597 PMID:35227688 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:17357069 PMID:18235093 PMID:22995991 PMID:23536131 PMID:24429398 More... NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
G SIX2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 PMID:28492532 PMID:32164334 NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 PMID:28492532 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677 		JBrowse link
G TBC1D1 TBC1 domain family member 1 ISO ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation ClinVar PMID:25741868 NCBI chr 3:74,077,477...74,316,725
Ensembl chr 3:73,992,452...74,316,894 		JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26235987 PMID:30143558 NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205 		JBrowse link
G TBX6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:30143558 NCBI chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:11112658 PMID:11950061 PMID:18946009 PMID:24502542 PMID:25792522 More... NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666 		JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:32891193 NCBI chr25:18,040,081...18,158,241
Ensembl chr25:18,050,995...18,156,980 		JBrowse link
G ZNG1 Zn regulated GTPase metalloprotein activator 1 ISO MouseDO NCBI chr 1:89,063,511...89,120,995
Ensembl chr 1:89,063,511...89,121,360 		JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 OMIM
ClinVar		 PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 More... NCBI chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427 		JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:15888565 PMID:16731295 NCBI chr10:20,747,139...20,755,131
Ensembl chr10:20,747,140...20,755,162 		JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
CAKUT3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 OMIM
ClinVar		 PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056 		JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:119,124,042...119,197,394
Ensembl chr 1:119,123,933...119,197,338 		JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 More... NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
Cystinuria, type I - A
Cystinuria, type II - A
DNA:missense mutations		 OMIM
ClinVar
OMIA
RGD		 PMID:7493896 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8334504 More... RGD:1600015 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO
IAGP		 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
Cystinuria, type II - B		 OMIM
ClinVar
OMIA		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,253,646...13,277,997
Ensembl chr28:13,258,765...13,267,608 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome OMIM
ClinVar		 PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094 		JBrowse link
Ureteral Calculi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
Ureteral Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19755661 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
ureteral obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:21667191 RGD:12880020 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24103556 RGD:13703030 NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823 		JBrowse link
G ADAM12 ADAM metallopeptidase domain 12 ISO RGD PMID:24103556 RGD:13703030 NCBI chr28:35,154,899...35,484,852
Ensembl chr28:35,158,126...35,485,573 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:24103556 RGD:13703030 NCBI chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731 		JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 4:52,650,077...52,733,299
Ensembl chr 4:52,650,162...52,729,843 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO RGD PMID:17583485 RGD:9681748 NCBI chr31:22,169,821...22,178,879
Ensembl chr31:22,170,381...22,178,945 		JBrowse link
G ADCY6 adenylate cyclase 6 ISO RGD PMID:18971210 RGD:2312654 NCBI chr27:5,739,514...5,752,888
Ensembl chr27:5,733,586...5,752,888 		JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:kidney RGD PMID:18945953 RGD:2325637 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:23677242 RGD:7243949 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:22085202 RGD:10041001 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ARG1 arginase 1 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ARG2 arginase 2 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO RGD PMID:18971210 RGD:2312654 NCBI chr  X:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771 		JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:serum RGD PMID:19536607 RGD:6482685 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:cortex of kidney RGD PMID:23314838 RGD:11561927 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236 		JBrowse link
G CASP12 caspase 12 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484 		JBrowse link
G CAT catalase ISO protein:decreased expression:kidney RGD PMID:21305585 RGD:5130876 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18987110 RGD:2314607 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		JBrowse link
G CD14 CD14 molecule ISO mRNA,protein:increased expression:kidney RGD PMID:10966493 RGD:7204444 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:inner medulla of kidney (rat) RGD PMID:24761003 RGD:11570413 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12887829 NCBI chr  X:11,863,479...11,908,361
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:kidney RGD PMID:16951369 PMID:23628901 RGD:7257564 RGD:7257574 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:kidney, macrophage RGD PMID:16951369 RGD:7257574 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO RGD PMID:25840911 RGD:12904676 NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:kidney (rat) RGD PMID:14612384 RGD:7248457 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:renal tubule, renal interstitium (rat)		 CTD
RGD		 PMID:12887768 PMID:26207612 RGD:8662268 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G FBN1 fibrillin 1 treatment ISO protein:increased expression:kidney (mouse) RGD PMID:17200203 RGD:7365047 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12218318 PMID:28318631 RGD:7205473 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO RGD PMID:24844766 RGD:13506791 NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703 		JBrowse link
G GJA4 gap junction protein alpha 4 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr15:7,167,665...7,170,388 JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:kidney RGD PMID:12644912 RGD:7207847 NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315 		JBrowse link
G GJB6 gap junction protein beta 6 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney tubule: RGD PMID:22257277 RGD:7245953 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 1:64,630,656...64,646,546 JBrowse link
G HIPK2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr16:9,066,957...9,256,916
Ensembl chr16:9,066,970...9,244,526 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:decreased expression:kidney RGD PMID:17475897 RGD:2308940 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:renal endothelium, epithelium, interstitium RGD PMID:10930117 RGD:11522713 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:21216449 RGD:6893456 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:kidney (mouse) RGD PMID:21370451 PMID:22048127 RGD:7175301 RGD:7175323 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:11123344 PMID:21975862 RGD:6906925 RGD:6909121 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608 		JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO RGD PMID:31177020 RGD:40924651 NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO protein:altered expression:kidney cortex (rat) RGD PMID:20734248 RGD:5133246 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		JBrowse link
G LUM lumican ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr15:31,792,872...31,800,444
Ensembl chr15:31,793,233...31,800,912 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MIR494 microRNA mir-494 ISO RGD PMID:25854542 RGD:156420140 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22085202 RGD:10041001 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism
protein, mRNA:increased expression:plasma, kidney:		 CTD
RGD		 PMID:19223006 PMID:26207612 RGD:7247722 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO RGD PMID:19223006 RGD:7247722 NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:increased expression:kidney RGD PMID:20734248 RGD:5133246 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:10644908 RGD:10449497 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G POSTN periostin ISO mRNA,protein:increased expression:kidney: RGD PMID:22167593 RGD:10040972 NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:increased activity:kidney RGD PMID:9328931 RGD:7777163 NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809 		JBrowse link
G ROMO1 reactive oxygen species modulator 1 ISO mRNA,protein:increased expression:kidney RGD PMID:28791399 RGD:13463462 NCBI chr24:24,614,920...24,616,586
Ensembl chr24:24,615,197...24,616,582
Ensembl chr25:24,615,197...24,616,582 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (rat)		 CTD
RGD		 PMID:11832778 PMID:12365557 PMID:28318631 RGD:8547912 RGD:8547941 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO mRNA, protein:increased expression:nephron tubule epithelium RGD PMID:22302193 RGD:12859047 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		JBrowse link
G SKIL SKI like proto-oncogene ISO protein:decreased expression:kidney RGD PMID:19382458 RGD:2308888 NCBI chr34:34,871,770...34,898,681
Ensembl chr34:34,871,574...34,894,854 		JBrowse link
G SMAD3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242 		JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression:kidney (mouse) RGD PMID:21544241 RGD:7246895 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:19541932 RGD:7245519 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO mRNA:increased expression:tibia RGD PMID:22943310 RGD:7205482 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:19541932 RGD:7245519 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:10564241 PMID:19541932 RGD:7245519 RGD:7245536 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
vesicoureteral reflux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFAP1L2 actin filament associated protein 1 like 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr28:25,137,235...25,228,454
Ensembl chr28:25,133,296...25,194,431 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:11819209 RGD:6903866 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238 		JBrowse link
G AGTR2 angiotensin II receptor type 2 no_association ISO DNA:transition:intron:-1332A>G (human) RGD PMID:11819209 PMID:12187255 PMID:15470205 RGD:6903853 RGD:6903860 RGD:6903866 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853 		JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:12110011 RGD:7257580 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23200959 RGD:7245478 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952 		JBrowse link
G IFNG interferon gamma ISO DNA:polymorphism: : 874T>A (human) RGD PMID:22906585 RGD:6893460 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:14760498 RGD:7242902 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:28492532 NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:25741868 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749 		JBrowse link
G UPK3A uroplakin 3A ISO OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 MouseDO NCBI chr10:20,747,139...20,755,131
Ensembl chr10:20,747,140...20,755,162 		JBrowse link
G VWA2 von Willebrand factor A domain containing 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr28:25,089,499...25,136,879
Ensembl chr28:25,089,499...25,136,893 		JBrowse link
Vesicoureteral Reflux 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux 2 OMIM
ClinVar		 PMID:16199547 PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 More... NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392 		JBrowse link
Vesicoureteral Reflux 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Vesicoureteral reflux 3 OMIM
ClinVar		 PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
Vesicoureteral Reflux 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RETREG1 reticulophagy regulator 1 IAGP Neuropathy, sensory, RETREG1-related OMIA PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 More... NCBI chr 4:86,817,391...86,921,119 JBrowse link
Vesicoureteral Reflux 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Vesicoureteral reflux 8 OMIM
ClinVar		 PMID:23555315 PMID:23620400 PMID:24088041 PMID:25741868 PMID:26257771 More... NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17766
    disease of anatomical entity 15100
      Urogenital Diseases 4669
        urinary system disease 2351
          ureteral disease 168
            Ureteral Neoplasms + 1
            cystinuria + 7
            pyeloureteritis cystica 0
            pyoureter 0
            ureter tuberculosis 0
            ureteral obstruction + 96
            ureterocele 0
            ureterolithiasis + 4
            vesicoureteral reflux + 69
paths to the root