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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:Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy.
Synonyms:exact_synonym: Ureteral Obstructions
 primary_id: MESH:D014517;   RDO:0003206
 xref: ICD9CM:593.4
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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
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

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
          urinary tract obstruction 145
            ureteral obstruction 99
              CAKUT2 4
paths to the root