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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:vesicoureteral reflux
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Accession:DOID:9620 term browser browse the term
Definition:A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. (DO)
Synonyms:exact_synonym: VUR;   VUR1;   vesico-ureteral reflux;   vesicoureteral reflux 1
 primary_id: MESH:D014718
 alt_id: OMIM:193000;   OMIM:614317
 xref: EFO:0007536;   ICD10CM:N13.7;   ICD10CM:N13.70;   ICD9CM:593.7;   NCI:C84467;   OMIM:PS193000;   ORDO:289365


show annotations for term's descendants           Sort by:
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 chr 1:255,964,238...256,060,828
Ensembl chr 1:255,964,238...256,060,820 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:11819209 RGD:6903866 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 no_association ISO DNA:transition:intron:-1332A>G (human) RGD PMID:12187255 PMID:15470205 PMID:11819209 RGD:6903860, RGD:6903853, RGD:6903866 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:12110011 RGD:7257580 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23200959 RGD:7245478 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Ifng interferon gamma ISO DNA:polymorphism: : 874T>A (human) RGD PMID:22906585 RGD:6893460 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:14760498 RGD:7242902 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Vesico-Ureteral Reflux ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473 		JBrowse link
G Robo2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:28492532 NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536 		JBrowse link
G Sox17 SRY-box transcription factor 17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vesicoureteral reflux		 CTD
ClinVar		 PMID:25741868 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228 		JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD
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 chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		JBrowse link
G Vwa2 von Willebrand factor A domain containing 2 ISO ClinVar Annotator: match by term: Vesicoureteral reflux ClinVar PMID:29351342 NCBI chr 1:255,922,263...255,963,920
Ensembl chr 1:255,923,541...255,963,934 		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 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 chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		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 chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		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 chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		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 chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		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 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450 		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 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		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 chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		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 PMID:33057194 PMID:35982159 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		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 chr10:86,667,641...86,704,198
Ensembl chr10:86,667,834...86,705,137 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		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 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		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 chr10:86,706,749...86,721,974
Ensembl chr10:86,706,749...86,721,974 		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 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		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 chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		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:16199547 PMID:18671281 PMID:25741868 PMID:28492532 More... NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		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 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		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 chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		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 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		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 chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		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 chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		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 chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Lifr LIF receptor subunit alpha ISS
ISO		 ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract MouseDO
ClinVar		 PMID:25741868 PMID:26627873 PMID:28334964 PMID:28492532 PMID:34063511 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		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 chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		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:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		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 chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		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 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		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 chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		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 chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		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 chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536 		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 chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32164334 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		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 chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		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 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		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 chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499 		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 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		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 chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		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 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		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 chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISS MouseDO NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
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 chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		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 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		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 chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:15888565 PMID:16731295 PMID:25741868 NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		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 | ClinVar Annotator: match by term: NRIP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		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 chr 1:243,419,175...243,440,464
Ensembl chr 1:243,419,194...243,434,327 		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 chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817 		JBrowse link
G Pax2 paired box 2 ISO
ISS		 ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome
OMIM:120330
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ROBO2-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 2		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 More... NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536 		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: SOX17-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 3 OMIM
ClinVar		 PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228 		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 chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		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: TNXB-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 8 OMIM
ClinVar		 PMID:9288108 PMID:11642233 PMID:15733269 PMID:16199547 PMID:20853426 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          bladder disease 448
            vesicoureteral reflux 70
              CAKUT + 58
              Vesicoureteral Reflux 2 1
              Vesicoureteral Reflux 3 1
              Vesicoureteral Reflux 5 1
              Vesicoureteral Reflux 6 0
              Vesicoureteral Reflux 7 0
              Vesicoureteral Reflux 8 1
              X-Linked Vesicoureteral Reflux 0
paths to the root