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
Accession: DOID:5199
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Cyp2j4em1Sage
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage
IMP
RGD
PMID:25840911
RGD:12904676
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all