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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 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: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: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: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 Tshz3 teashirt zinc finger homeobox 3 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 NCBI chr 1:89,386,732...89,460,719
Ensembl chr 1:89,381,858...89,460,874 		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 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to		 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
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 chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO
ISS		 DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
OMIM:220100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO
ISS		 DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition
OMIM:220100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		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: 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
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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		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 IEP protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:21667191 RGD:12880020 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adam12 ADAM metallopeptidase domain 12 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Adam19 ADAM metallopeptidase domain 19 ISO RGD PMID:24103556 RGD:13703030 NCBI chr10:30,491,362...30,583,115
Ensembl chr10:30,491,405...30,583,105 		JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 IEP RGD PMID:17583485 RGD:9681748 NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103 		JBrowse link
G Adcy6 adenylate cyclase 6 IEP RGD PMID:18971210 RGD:2312654 NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754 		JBrowse link
G Adm adrenomedullin IEP mRNA, protein:increased expression:kidney RGD PMID:18945953 RGD:2325637 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:23677242 RGD:7243949 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP RGD PMID:22085202 RGD:10041001 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Arg1 arginase 1 IEP mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Arg2 arginase 2 IEP mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 IEP RGD PMID:18971210 RGD:2312654 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G B2m beta-2 microglobulin IEP protein:increased expression:serum RGD PMID:19536607 RGD:6482685 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:cortex of kidney RGD PMID:23314838 RGD:11561927 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:25707520 RGD:13782175 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29781318 RGD:13782341 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:29781318 RGD:13782341 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:29781318 RGD:13782341 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase IEP protein:decreased expression:kidney RGD PMID:21305585 RGD:5130876 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:15673311 RGD:7248411 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:kidney (rat) RGD PMID:18987110 RGD:2314607 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Cd14 CD14 molecule ISO mRNA,protein:increased expression:kidney RGD PMID:10966493 RGD:7204444 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cfl1 cofilin 1 IEP protein:increased expression:inner medulla of kidney (rat) RGD PMID:24761003 RGD:11570413 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12887829 NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349 		JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Csf1 colony stimulating factor 1 ISO mRNA:increased expression:kidney RGD PMID:23628901 PMID:16951369 RGD:7257564, RGD:7257574 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:kidney, macrophage RGD PMID:16951369 RGD:7257574 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 IMP RGD PMID:25840911 RGD:12904676 NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794 		JBrowse link
G Cyp2j4em1Sage cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage IMP RGD PMID:25840911 RGD:12904676
G Ddit3 DNA-damage inducible transcript 3 treatment IEP RGD PMID:25707520 RGD:13782175 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Drd1 dopamine receptor D1 IEP
ISO		 protein:decreased expression:kidney (rat) RGD PMID:14612384 PMID:14612384 RGD:7248457, RGD:7248457 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Edn1 endothelin 1 IEP
ISO		 mRNA, protein:increased expression:renal tubule, renal interstitium (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26207612 PMID:12887768 RGD:8662268 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Fbn1 fibrillin 1 treatment ISO protein:increased expression:kidney (mouse) RGD PMID:17200203 PMID:17200203 RGD:7365047, RGD:7365047 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fn1 fibronectin 1 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:28318631 PMID:12218318 RGD:7205473 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP RGD PMID:24844766 RGD:13506791 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gja4 gap junction protein, alpha 4 IEP mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		JBrowse link
G Gja5 gap junction protein, alpha 5 IEP mRNA:increased expression:kidney RGD PMID:12644912 RGD:7207847 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gjb6 gap junction protein, beta 6 IEP mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney tubule: RGD PMID:22257277 RGD:7245953 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		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 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		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 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Hipk2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 4:67,439,327...67,619,223
Ensembl chr 4:67,440,501...67,619,223 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IEP protein:decreased expression:kidney RGD PMID:17475897 RGD:2308940 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 treatment IEP RGD PMID:25707520 RGD:13782175 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:renal endothelium, epithelium, interstitium RGD PMID:10930117 RGD:11522713 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma IDA RGD PMID:21216449 RGD:6893456 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1b interleukin 1 beta ISO
IDA		 mRNA, protein:increased expression:kidney (mouse) RGD PMID:22048127 PMID:21370451 RGD:7175301, RGD:7175323 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:21975862 PMID:11123344 RGD:6906925, RGD:6909121 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Irf1 interferon regulatory factor 1 IEP mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166 		JBrowse link
G Irf5 interferon regulatory factor 5 treatment IEP RGD PMID:31177020 RGD:40924651 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 IEP protein:altered expression:kidney cortex (rat) RGD PMID:20734248 RGD:5133246 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Lum lumican IEP mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment IDA RGD PMID:28063381 RGD:13800569 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IDA RGD PMID:28063381 RGD:13800569 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mir494 microRNA 494 ISO RGD PMID:25854542 RGD:156420140 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP RGD PMID:22085202 RGD:10041001 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppa natriuretic peptide A IDA
ISO		 CTD Direct Evidence: marker/mechanism
protein, mRNA:increased expression:plasma, kidney:		 CTD
RGD		 PMID:26207612 PMID:19223006 PMID:19223006 RGD:7247722, RGD:7247722 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO RGD PMID:19223006 RGD:7247722 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP mRNA:increased expression:kidney RGD PMID:20734248 RGD:5133246 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 IEP protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 treatment IEP RGD PMID:29781318 RGD:13782341 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA:increased expression:kidney: RGD PMID:10644908 RGD:10449497 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Postn periostin ISO mRNA,protein:increased expression:kidney: RGD PMID:22167593 RGD:10040972 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:increased activity:kidney RGD PMID:9328931 RGD:7777163 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507 		JBrowse link
G Romo1 reactive oxygen species modulator 1 IEP mRNA,protein:increased expression:kidney RGD PMID:28791399 RGD:13463462 NCBI chr 3:144,659,709...144,661,310
Ensembl chr 3:144,659,826...144,661,310 		JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (rat)		 CTD
RGD		 PMID:28318631 PMID:12365557 PMID:11832778 RGD:8547941, RGD:8547912 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO mRNA, protein:increased expression:nephron tubule epithelium RGD PMID:22302193 RGD:12859047 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Skil SKI-like proto-oncogene IEP protein:decreased expression:kidney RGD PMID:19382458 RGD:2308888 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:kidney (mouse) RGD PMID:21544241 RGD:7246895 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:19541932 RGD:7245519 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO mRNA:increased expression:tibia RGD PMID:22943310 RGD:7205482 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP RGD PMID:19541932 RGD:7245519 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B IEP
ISO		 RGD PMID:19541932 PMID:10564241 RGD:7245519, RGD:7245536 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		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 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:11819209 PMID:15470205 RGD:6903860, RGD:6903866, RGD:6903853 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:25741868 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
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:12865992 PMID:15733269 PMID:16199547 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          ureteral disease 173
            Ureteral Neoplasms + 1
            cystinuria + 7
            pyeloureteritis cystica 0
            pyoureter 0
            ureter tuberculosis 0
            ureteral obstruction + 99
            ureterocele 0
            ureterolithiasis + 4
            vesicoureteral reflux + 71
paths to the root