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 .
G
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708
G
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
treatment
ISO
RGD
PMID:21667191
RGD:12880020
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
G
ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
G
ADAM10
ADAM metallopeptidase domain 10
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798
G
ADAM12
ADAM metallopeptidase domain 12
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr14:135,302,188...135,682,144
Ensembl chr14:135,302,813...135,682,159
G
ADAM17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
G
ADAM19
ADAM metallopeptidase domain 19
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr16:65,715,445...65,814,761
Ensembl chr16:65,715,517...65,814,758
G
ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
RGD
PMID:17583485
RGD:9681748
NCBI chr13:190,277,175...190,285,957
Ensembl chr13:190,276,430...190,286,214
G
ADCY6
adenylate cyclase 6
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr 5:14,834,420...14,855,309
Ensembl chr 5:14,834,426...14,850,728
G
ADM
adrenomedullin
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
G
AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:23677242
RGD:7243949
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
G
AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
G
AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22085202
RGD:10041001
G
ARG1
arginase 1
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988
G
ARG2
arginase 2
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909
G
AVPR2
vasopressin receptor 2
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr X:124,638,433...124,640,969
Ensembl chr X:124,638,523...124,640,966
G
B2M
beta-2-microglobulin
ISO
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
G
BECN1
beclin 1
ISO
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
G
CASP7
caspase 7
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365
G
CASP9
caspase 9
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
G
CAT
catalase
ISO
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
CCL11
chemokine (C-C motif) ligand 11
ISO
RGD
PMID:15673311
RGD:7248411
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
G
CCL2
chemokine (C-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
G
CCL20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr15:129,172,743...129,176,069
G
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
G
CD14
CD14 molecule
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
G
CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
G
CFL1
cofilin 1
ISO
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
G
CLTRN
collectrin, amino acid transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chr X:12,183,793...12,215,474
Ensembl chr X:12,183,796...12,224,964
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
G
COL1A2
collagen type I alpha 2 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
G
COL3A1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
G
CSF1
colony stimulating factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:16951369 PMID:23628901
RGD:7257564 RGD:7257574
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
G
CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633
G
DDIT3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
G
DRD1
dopamine receptor D1
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:14612384
RGD:7248457
NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976
G
EDN1
endothelin 1
ISO
mRNA, protein:increased expression:renal tubule, renal interstitium (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12887768 PMID:26207612
RGD:8662268
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
FBN1
fibrillin 1
treatment
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:17200203
RGD:7365047
NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
G
FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12218318 PMID:28318631
RGD:7205473
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
G
GFER
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:24844766
RGD:13506791
NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
G
GJA4
gap junction protein alpha 4
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162
G
GJA5
gap junction protein alpha 5
ISO
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286
G
GJB6
gap junction protein beta 6
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
G
HAVCR1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chr16:66,162,318...66,208,868
G
HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
G
HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
G
HEY2
hes related family bHLH transcription factor with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385
G
HIPK2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr18:9,940,535...10,141,815
Ensembl chr18:9,861,792...10,135,065
G
HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
G
HSPA5
heat shock protein family A (Hsp70) member 5
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
G
IFNG
interferon gamma
ISO
RGD
PMID:21216449
RGD:6893456
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IL1RN
interleukin 1 receptor antagonist
ISO
mouse model treated with human protein
RGD
PMID:11123344 PMID:21975862
RGD:6906925 RGD:6909121
G
IRF1
interferon regulatory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
G
IRF5
interferon regulatory factor 5
treatment
ISO
RGD
PMID:31177020
RGD:40924651
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
G
KEAP1
kelch like ECH associated protein 1
ISO
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
G
LOC110258578
interleukin-1 beta-like
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:21370451 PMID:22048127
RGD:7175301 RGD:7175323
G
LOC110261221
cytochrome P450 2J2-like
ISO
RGD
PMID:25840911
RGD:12904676
NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
G
LUM
lumican
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598
G
MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
G
MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
G
MMP7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
G
MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
G
MUC20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr13:134,254,978...134,265,950
G
NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
G
NPPA
natriuretic peptide A
ISO
protein, mRNA:increased expression:plasma, kidney: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19223006 PMID:26207612
RGD:7247722
NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
G
NPPB
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
G
NPPC
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673
G
NPR1
natriuretic peptide receptor 1
ISO
RGD
PMID:19223006
RGD:7247722
NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430
G
NQO1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
G
PAK2
p21 (RAC1) activated kinase 2
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr13:133,276,122...133,383,506
Ensembl chr13:133,273,112...133,389,458
G
PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
G
PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
Ensembl chr 5:8,986,462...9,007,435
G
POSTN
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
G
RELB
RELB proto-oncogene, NF-kB subunit
ISO
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319
G
ROMO1
reactive oxygen species modulator 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chr17:39,029,221...39,030,941
Ensembl chr17:39,028,977...39,031,122
G
SERPINE1
serpin family E member 1
treatment
ISO
mRNA:increased expression:kidney (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11832778 PMID:12365557 PMID:28318631
RGD:8547912 RGD:8547941
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SHH
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
G
SKIL
SKI like proto-oncogene
ISO
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chr13:109,029,831...109,059,176
Ensembl chr13:109,029,952...109,059,173
G
SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449
G
SNAI1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499
G
TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
G
TGFB2
transforming growth factor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
G
TLR9
toll like receptor 9
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
G
TNF
tumor necrosis factor
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
G
TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
G
TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:10564241 PMID:19541932
RGD:7245519 RGD:7245536
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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 chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
G
MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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 chr 1:53,836,939...53,867,460
Ensembl chr 1:53,838,189...53,867,254
G
TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all