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
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21667191
RGD:12880020
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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ADAM10
ADAM metallopeptidase domain 10
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823
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ADAM12
ADAM metallopeptidase domain 12
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr28:35,154,899...35,484,852
Ensembl chr28:35,158,126...35,485,573
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ADAM17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731
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ADAM19
ADAM metallopeptidase domain 19
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 4:52,650,077...52,733,299
Ensembl chr 4:52,650,162...52,729,843
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
RGD
PMID:17583485
RGD:9681748
NCBI chr31:22,169,821...22,178,879
Ensembl chr31:22,170,381...22,178,945
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ADCY6
adenylate cyclase 6
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr27:5,739,514...5,752,888
Ensembl chr27:5,733,586...5,752,888
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ADM
adrenomedullin
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:23677242
RGD:7243949
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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ARG1
arginase 1
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
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ARG2
arginase 2
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402
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AVPR2
arginine vasopressin receptor 2
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771
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B2M
beta-2-microglobulin
ISO
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
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B9D2
B9 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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BECN1
beclin 1
ISO
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
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CASP12
caspase 12
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683
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CASP3
caspase 3
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASP7
caspase 7
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
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CASP9
caspase 9
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
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CAT
catalase
ISO
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 9:39,008,187...39,009,932
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CCL20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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CD14
CD14 molecule
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chr 2:35,790,505...35,792,967
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CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CFL1
cofilin 1
ISO
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
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CLTRN
collectrin, amino acid transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chr X:11,863,479...11,908,361
Ensembl chr X:11,798,839...11,900,594
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COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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COL1A2
collagen type I alpha 2 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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COL3A1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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CSF1
colony stimulating factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:16951369 PMID:23628901
RGD:7257564 RGD:7257574
NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
RGD
PMID:25840911
RGD:12904676
NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617
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DDIT3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
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DRD1
dopamine receptor D1
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:14612384
RGD:7248457
NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:renal tubule, renal interstitium (rat)
CTD RGD
PMID:12887768 PMID:26207612
RGD:8662268
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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FBN1
fibrillin 1
treatment
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:17200203
RGD:7365047
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12218318 PMID:28318631
RGD:7205473
NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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GFER
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:24844766
RGD:13506791
NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703
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GJA4
gap junction protein alpha 4
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr15:7,167,665...7,170,388
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GJA5
gap junction protein alpha 5
ISO
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315
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GJB6
gap junction protein beta 6
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
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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 chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121
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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 1:64,630,656...64,646,546
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HIPK2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr16:9,066,957...9,256,916
Ensembl chr16:9,066,970...9,244,526
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HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
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HSPA5
heat shock protein family A (Hsp70) member 5
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IFNG
interferon gamma
ISO
RGD
PMID:21216449
RGD:6893456
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL1B
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:21370451 PMID:22048127
RGD:7175301 RGD:7175323
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL1RN
interleukin 1 receptor antagonist
ISO
mouse model treated with human protein
RGD
PMID:11123344 PMID:21975862
RGD:6906925 RGD:6909121
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IRF1
interferon regulatory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608
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IRF5
interferon regulatory factor 5
treatment
ISO
RGD
PMID:31177020
RGD:40924651
NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795
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KEAP1
kelch like ECH associated protein 1
ISO
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496
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LUM
lumican
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr15:31,792,872...31,800,444
Ensembl chr15:31,793,233...31,800,912
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
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MIR494
microRNA mir-494
ISO
RGD
PMID:25854542
RGD:156420140
NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465
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MMP7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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MUC20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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NPPA
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism protein, mRNA:increased expression:plasma, kidney:
CTD RGD
PMID:19223006 PMID:26207612
RGD:7247722
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
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NPPB
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 2:84,395,844...84,397,473
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NPPC
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996
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NPR1
natriuretic peptide receptor 1
ISO
RGD
PMID:19223006
RGD:7247722
NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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PAK2
p21 (RAC1) activated kinase 2
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478
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PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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POSTN
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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RELB
RELB proto-oncogene, NF-kB subunit
ISO
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809
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ROMO1
reactive oxygen species modulator 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chr24:24,614,920...24,616,586
Ensembl chr24:24,615,197...24,616,582 Ensembl chr25:24,615,197...24,616,582
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SERPINE1
serpin family E member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (rat)
CTD RGD
PMID:11832778 PMID:12365557 PMID:28318631
RGD:8547912 RGD:8547941
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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SHH
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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SKIL
SKI like proto-oncogene
ISO
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chr34:34,871,770...34,898,681
Ensembl chr34:34,871,574...34,894,854
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SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
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SNAI1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628
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TGFB2
transforming growth factor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
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TLR9
toll like receptor 9
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNF
tumor necrosis factor
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:10564241 PMID:19541932
RGD:7245519 RGD:7245536
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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BMP4
bone morphogenetic protein 4
ISO
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human)
RGD
PMID:21927809
RGD:13446406
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
G
TBX18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction
OMIM ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205
G
TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all