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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 obstruction
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Accession:DOID:5199 term browser browse the term
Definition:An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder. (DO)
Synonyms:exact_synonym: ureteral obstructions
 xref: ICD9CM:593.4;   MESH:D014517;   MONDO:0003329
For additional species annotation, visit the Alliance of Genome Resources.



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ureteral obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:21667191 RGD:12880020 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24103556 RGD:13703030 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
JBrowse link
G ADAM12 ADAM metallopeptidase domain 12 ISO RGD PMID:24103556 RGD:13703030 NCBI chr10:126,012,391...126,388,477
Ensembl chr10:126,012,381...126,388,477
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 5:157,477,304...157,575,775
Ensembl chr 5:157,395,534...157,575,775
JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO RGD PMID:17583485 RGD:9681748 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
JBrowse link
G ADCY6 adenylate cyclase 6 ISO RGD PMID:18971210 RGD:2312654 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089
JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:kidney RGD PMID:18945953 RGD:2325637 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:23677242 RGD:7243949 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:22085202 RGD:10041001 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ARG1 arginase 1 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ARG2 arginase 2 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO RGD PMID:18971210 RGD:2312654 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:serum RGD PMID:19536607 RGD:6482685 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:cortex of kidney RGD PMID:23314838 RGD:11561927 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAT catalase ISO protein:decreased expression:kidney RGD PMID:21305585 RGD:5130876 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL11 C-C motif chemokine ligand 11 IEP RGD PMID:15673311 RGD:7248411 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL20 C-C motif chemokine ligand 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18987110 RGD:2314607 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CD14 CD14 molecule ISO mRNA,protein:increased expression:kidney RGD PMID:10966493 RGD:7204444 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:inner medulla of kidney (rat) RGD PMID:24761003 RGD:11570413 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CLTRN collectrin, amino acid transport regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:12887829 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:kidney RGD PMID:23628901 PMID:16951369 RGD:7257564, RGD:7257574 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:kidney, macrophage RGD PMID:16951369 RGD:7257574 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO RGD PMID:25840911 RGD:12904676 NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:kidney (rat) RGD PMID:14612384 RGD:7248457 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G EDN1 endothelin 1 ISO
EXP
mRNA, protein:increased expression:renal tubule, renal interstitium (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:26207612 PMID:12887768 RGD:8662268 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FBN1 fibrillin 1 treatment ISO protein:increased expression:kidney (mouse) RGD PMID:17200203 PMID:17200203 RGD:7365047, RGD:7365047 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FN1 fibronectin 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28318631 PMID:12218318 RGD:7205473 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO RGD PMID:24844766 RGD:13506791 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
JBrowse link
G GJA4 gap junction protein alpha 4 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:kidney RGD PMID:12644912 RGD:7207847 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G GJB6 gap junction protein beta 6 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney tubule: RGD PMID:22257277 RGD:7245953 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
JBrowse link
G HES1 hes family bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G HIPK2 homeodomain interacting protein kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 7:139,561,570...139,777,998
Ensembl chr 7:139,561,570...139,777,998
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:decreased expression:kidney RGD PMID:17475897 RGD:2308940 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:renal endothelium, epithelium, interstitium RGD PMID:10930117 RGD:11522713 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma ISO RGD PMID:21216449 RGD:6893456 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:kidney (mouse) RGD PMID:22048127 PMID:21370451 RGD:7175301, RGD:7175323 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IDA
ISO
mouse model treated with human protein RGD PMID:21975862 PMID:11123344 RGD:6906925, RGD:6909121 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IRF1 interferon regulatory factor 1 ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO RGD PMID:31177020 RGD:40924651 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO protein:altered expression:kidney cortex (rat) RGD PMID:20734248 RGD:5133246 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G LUM lumican ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr12:91,102,629...91,111,494
Ensembl chr12:91,102,629...91,111,494
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MIR494 microRNA 494 ISO RGD PMID:25854542 RGD:156420140 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
JBrowse link
G MMP7 matrix metallopeptidase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22085202 RGD:10041001 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPA natriuretic peptide A ISO
EXP
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 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPB natriuretic peptide B EXP CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NPPC natriuretic peptide C EXP CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO RGD PMID:19223006 RGD:7247722 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:increased expression:kidney RGD PMID:20734248 RGD:5133246 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:10644908 RGD:10449497 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G POSTN periostin ISO mRNA,protein:increased expression:kidney: RGD PMID:22167593 RGD:10040972 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:increased activity:kidney RGD PMID:9328931 RGD:7777163 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192
JBrowse link
G ROMO1 reactive oxygen species modulator 1 ISO mRNA,protein:increased expression:kidney RGD PMID:28791399 RGD:13463462 NCBI chr20:35,699,405...35,700,980
Ensembl chr20:35,699,272...35,700,984
JBrowse link
G SELL selectin L ameliorates ISO RGD PMID:10398147 RGD:597015755 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (rat)
CTD
RGD
PMID:28318631 PMID:12365557 PMID:11832778 RGD:8547941, RGD:8547912 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHH sonic hedgehog signaling molecule ISO mRNA, protein:increased expression:nephron tubule epithelium RGD PMID:22302193 RGD:12859047 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SKIL SKI like proto-oncogene ISO protein:decreased expression:kidney RGD PMID:19382458 RGD:2308888 NCBI chr 3:170,357,715...170,396,849
Ensembl chr 3:170,357,342...170,396,835
JBrowse link
G SMAD3 SMAD family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression:kidney (mouse) RGD PMID:21544241 RGD:7246895 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:19541932 RGD:7245519 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO mRNA:increased expression:tibia RGD PMID:22943310 RGD:7205482 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:19541932 RGD:7245519 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:19541932 PMID:10564241 RGD:7245519, RGD:7245536 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G TBX18 T-box transcription factor 18 IAGP
EXP
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: TBX18-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction
OMIM
ClinVar
CTD
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      Urogenital Diseases 16387
        urinary system disease 5106
          urinary tract obstruction 142
            ureteral obstruction 98
              CAKUT2 4
paths to the root