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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 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 chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303 		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 (peptidyl-dipeptidase A) 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:34906502 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		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 chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		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 chr14:61,793,362...62,128,424
Ensembl chr14:61,793,332...62,127,094 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		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 chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		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 chr 7:39,384,397...39,427,729
Ensembl chr 7:39,384,556...39,431,248 		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 chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692 		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 chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		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 6:964,551...976,881
Ensembl chr 6:964,566...976,832 		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 chr12:19,549,280...19,582,090
Ensembl chr12:19,549,286...19,582,154 		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 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833 		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 6:77,723,374...77,747,780
Ensembl chr 6:77,718,849...77,747,771 		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 chr12:19,531,507...19,548,303
Ensembl chr12:19,531,603...19,548,301 		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 chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		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 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
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 chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375 		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 chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952 		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 chr11:13,775,267...14,116,377
Ensembl chr11:13,959,666...14,113,230 		JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859 		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 chr 4:40,473,015...40,491,142
Ensembl chr 4:40,472,935...40,490,033 		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 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631 		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 chr14:109,764,511...110,469,064
Ensembl chr14:109,764,170...110,469,141 		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 chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 5:15,049,827...15,091,622 JBrowse link
G LOC102167255 leukemia inhibitory factor receptor 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 chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,316,875...46,377,273 		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 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146 		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 chr13:179,822,731...179,916,226
Ensembl chr13:179,825,281...179,915,177 		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:10,361,403...10,415,502 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 chr14:111,822,334...111,914,950
Ensembl chr14:111,823,308...111,913,969 		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 chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943 		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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		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 chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		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 chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542 		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 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		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 chr 3:95,460,046...95,463,428
Ensembl chr 3:95,459,945...95,463,251 		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 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510 		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 chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120 		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 8:29,370,344...29,590,574
Ensembl chr 8:29,370,481...29,590,571 		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 chr 1:53,836,939...53,867,460
Ensembl chr 1:53,838,189...53,867,254 		JBrowse link
G TBX6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580 		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 6:12,140,317...12,163,894
Ensembl chr 6:12,140,687...12,164,140 		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 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015 		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 chr 4:22,905,627...23,162,862
Ensembl chr 4:22,905,637...23,159,546 		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 chr11:661,314...731,030
Ensembl chr11:661,351...731,029 		JBrowse link
G ZNG1 Zn regulated GTPase metalloprotein activator 1 ISO MouseDO NCBI chr 1:221,521,313...221,570,992 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 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833 		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 chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999 		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 chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120 		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 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015 		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 chr 5:4,109,985...4,122,272
Ensembl chr 5:4,109,938...4,119,289 		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 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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 chr 1:53,836,939...53,867,460
Ensembl chr 1:53,838,189...53,867,254 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		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 chr13:179,822,731...179,916,226
Ensembl chr13:179,825,281...179,915,177 		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 9:128,948,386...129,012,241
Ensembl chr 9:128,948,498...129,012,218 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 6:42,733,675...42,815,286
Ensembl chr 6:42,735,666...42,815,281 		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 chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
DNA:missense mutations		 OMIM
ClinVar
RGD		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria OMIM
ClinVar		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,669,093...42,714,267 		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 chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,237,660...96,317,278
Ensembl chr 3:96,221,873...96,317,247 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		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 chr14:111,636,317...111,654,659
Ensembl chr14:111,636,376...111,650,318 		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 chr14:111,626,827...111,633,548
Ensembl chr14:111,626,097...111,633,564 		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 chr14:111,822,334...111,914,950
Ensembl chr14:111,823,308...111,913,969 		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 chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		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 chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:21667191 RGD:12880020 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G ADAM12 ADAM metallopeptidase domain 12 ISO RGD PMID:24103556 RGD:13703030 NCBI chr14:135,302,188...135,682,144
Ensembl chr14:135,302,813...135,682,159 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO RGD PMID:24103556 RGD:13703030 NCBI chr16:65,715,445...65,814,761
Ensembl chr16:65,715,517...65,814,758 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO RGD PMID:17583485 RGD:9681748 NCBI chr13:190,277,175...190,285,957
Ensembl chr13:190,276,430...190,286,214 		JBrowse link
G ADCY6 adenylate cyclase 6 ISO RGD PMID:18971210 RGD:2312654 NCBI chr 5:14,834,420...14,855,309
Ensembl chr 5:14,834,426...14,850,728 		JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:kidney RGD PMID:18945953 RGD:2325637 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:23677242 RGD:7243949 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:22085202 RGD:10041001
G ARG1 arginase 1 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ARG2 arginase 2 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO RGD PMID:18971210 RGD:2312654 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:serum RGD PMID:19536607 RGD:6482685 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:cortex of kidney RGD PMID:23314838 RGD:11561927 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007 		JBrowse link
G CAT catalase ISO protein:decreased expression:kidney RGD PMID:21305585 RGD:5130876 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 ISO RGD PMID:15673311 RGD:7248411 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18987110 RGD:2314607 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CD14 CD14 molecule ISO mRNA,protein:increased expression:kidney RGD PMID:10966493 RGD:7204444 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:inner medulla of kidney (rat) RGD PMID:24761003 RGD:11570413 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12887829 NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:kidney RGD PMID:16951369 PMID:23628901 RGD:7257564 RGD:7257574 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:kidney, macrophage RGD PMID:16951369 RGD:7257574 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:kidney (rat) RGD PMID:14612384 RGD:7248457 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976 		JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:renal tubule, renal interstitium (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12887768 PMID:26207612 RGD:8662268 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G FBN1 fibrillin 1 treatment ISO protein:increased expression:kidney (mouse) RGD PMID:17200203 RGD:7365047 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12218318 PMID:28318631 RGD:7205473 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO RGD PMID:24844766 RGD:13506791 NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991 		JBrowse link
G GJA4 gap junction protein alpha 4 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:kidney RGD PMID:12644912 RGD:7207847 NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286 		JBrowse link
G GJB6 gap junction protein beta 6 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney tubule: RGD PMID:22257277 RGD:7245953 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788 		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 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385 		JBrowse link
G HIPK2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr18:9,940,535...10,141,815
Ensembl chr18:9,861,792...10,135,065 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:decreased expression:kidney RGD PMID:17475897 RGD:2308940 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:renal endothelium, epithelium, interstitium RGD PMID:10930117 RGD:11522713 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:21216449 RGD:6893456 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:11123344 PMID:21975862 RGD:6906925 RGD:6909121
G IRF1 interferon regulatory factor 1 ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801 		JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO RGD PMID:31177020 RGD:40924651 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO protein:altered expression:kidney cortex (rat) RGD PMID:20734248 RGD:5133246 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA, protein:increased expression:kidney (mouse) RGD PMID:21370451 PMID:22048127 RGD:7175301 RGD:7175323
G LOC110261221 cytochrome P450 2J2-like ISO RGD PMID:25840911 RGD:12904676 NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979 		JBrowse link
G LUM lumican ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22085202 RGD:10041001 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr13:134,254,978...134,265,950 JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPPA natriuretic peptide A ISO protein, mRNA:increased expression:plasma, kidney:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19223006 PMID:26207612 RGD:7247722 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO RGD PMID:19223006 RGD:7247722 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:increased expression:kidney RGD PMID:20734248 RGD:5133246 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr13:133,276,122...133,383,506
Ensembl chr13:133,273,112...133,389,458 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:10644908 RGD:10449497 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G POSTN periostin ISO mRNA,protein:increased expression:kidney: RGD PMID:22167593 RGD:10040972 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:increased activity:kidney RGD PMID:9328931 RGD:7777163 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319 		JBrowse link
G ROMO1 reactive oxygen species modulator 1 ISO mRNA,protein:increased expression:kidney RGD PMID:28791399 RGD:13463462 NCBI chr17:39,029,221...39,030,941
Ensembl chr17:39,028,977...39,031,122 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11832778 PMID:12365557 PMID:28318631 RGD:8547912 RGD:8547941 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO mRNA, protein:increased expression:nephron tubule epithelium RGD PMID:22302193 RGD:12859047 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SKIL SKI like proto-oncogene ISO protein:decreased expression:kidney RGD PMID:19382458 RGD:2308888 NCBI chr13:109,029,831...109,059,176
Ensembl chr13:109,029,952...109,059,173 		JBrowse link
G SMAD3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression:kidney (mouse) RGD PMID:21544241 RGD:7246895 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:19541932 RGD:7245519 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO mRNA:increased expression:tibia RGD PMID:22943310 RGD:7205482 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:19541932 RGD:7245519 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:10564241 PMID:19541932 RGD:7245519 RGD:7245536 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		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 chr14:124,630,797...124,737,350
Ensembl chr14:124,630,799...124,672,813 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:11819209 RGD:6903866 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105 		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:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:12110011 RGD:7257580 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23200959 RGD:7245478 NCBI chr16:66,162,318...66,208,868 JBrowse link
G IFNG interferon gamma ISO DNA:polymorphism: : 874T>A (human) RGD PMID:22906585 RGD:6893460 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:14760498 RGD:7242902 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:28492532 NCBI chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:25741868 NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148 		JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		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 chr 5:4,109,985...4,122,272
Ensembl chr 5:4,109,938...4,119,289 		JBrowse link
G VWA2 von Willebrand factor A domain containing 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr14:124,577,420...124,631,760
Ensembl chr14:124,580,295...124,628,791 		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 chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542 		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 chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148 		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, RETREG1-related OMIA PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 More... NCBI chr16:5,726,493...5,879,461
Ensembl chr16:5,726,494...5,879,714 		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 chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17411
    disease of anatomical entity 14834
      Urogenital Diseases 4608
        urinary system disease 2330
          ureteral disease 166
            Ureteral Neoplasms + 1
            cystinuria + 7
            pyeloureteritis cystica 0
            pyoureter 0
            ureter tuberculosis 0
            ureteral obstruction + 95
            ureterocele 0
            ureterolithiasis + 4
            vesicoureteral reflux + 68
paths to the root