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.
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility
ISO
ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:31708116
NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372
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Actg1
actin gamma 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:3351890 PMID:13680526 PMID:18414213 PMID:22366783 PMID:25052316 PMID:26188271 PMID:27625340 PMID:30143558 More...
NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105
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Bicc1
BicC family RNA binding protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chrNW_004955425:12,237,611...12,522,321
Ensembl chrNW_004955425:12,333,747...12,519,872
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNPs: :rs2071047,rs17563(human)
RGD
PMID:24131739
RGD:13442498
NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795
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Cdc5l
cell division cycle 5 like
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chrNW_004955437:9,990,613...10,032,034
Ensembl chrNW_004955437:9,990,613...10,032,034
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Chd1l
chromodomain helicase DNA binding protein 1 like
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chrNW_004955568:1,132,594...1,189,176
Ensembl chrNW_004955568:1,132,857...1,189,024
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:31230195
NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chrNW_004955541:2,610,021...2,618,197
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Dhx8
DEAH-box helicase 8
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chrNW_004955451:16,941,422...16,963,690
Ensembl chrNW_004955451:16,941,215...16,965,093
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Dnase1
deoxyribonuclease 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chrNW_004955442:13,733,107...13,736,527
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Emc1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:26572623 PMID:26942288 PMID:27657687 PMID:28492532 PMID:29271071
NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951
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Etv4
ETS variant transcription factor 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chrNW_004955451:16,965,404...16,976,503
Ensembl chrNW_004955451:16,965,125...16,976,127
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558
NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:12766769 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 PMID:30143558 PMID:34246755 More...
NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495
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Frem1
FRAS1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:24700879 PMID:25741868 PMID:28492532 PMID:30143558
NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
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Gata3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
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Gdf6
growth differentiation factor 6
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436 More...
NCBI chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:29100090 PMID:30143558
NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
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Hnf1b
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 PMID:18644064 PMID:20155289 PMID:21380624 PMID:21775974 PMID:23539225 PMID:24387224 PMID:24429398 PMID:24897035 PMID:24961278 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26467025 PMID:28492532 PMID:30143558 PMID:31825128 PMID:32708349 PMID:33532864 PMID:33663443 More...
NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
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Hpse2
heparanase 2 (inactive)
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:19669792 PMID:20560210 PMID:25510506 PMID:27151922 PMID:28492532 PMID:30143558 More...
NCBI chrNW_004955507:4,442,677...5,205,976
Ensembl chrNW_004955507:4,445,772...5,205,957
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
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Lifr
LIF receptor subunit alpha
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:26627873 PMID:28334964 PMID:28492532 PMID:34063511 PMID:34426522 More...
NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488
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Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28381549 PMID:30143558
NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
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Ofd1
OFD1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 More...
NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:27657687 PMID:28492532 PMID:29641532
NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30692597 PMID:35227688
NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:17357069 PMID:18235093 PMID:22995991 PMID:23536131 PMID:24429398 PMID:25741868 PMID:27657687 PMID:28492532 PMID:30143558 PMID:30586318 More...
NCBI chrNW_004955407:14,301,689...15,549,561
Ensembl chrNW_004955407:14,305,498...14,842,790
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Sall1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
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Six2
SIX homeobox 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687 PMID:28492532 PMID:32164334
NCBI chrNW_004955441:12,029,530...12,033,214
Ensembl chrNW_004955441:12,029,480...12,033,214
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Slit2
slit guidance ligand 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:26026792 PMID:28492532
NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:26026792 PMID:30143558
NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500
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Tbc1d1
TBC1 domain family member 1
ISO
ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation
ClinVar
PMID:25741868
NCBI chrNW_004955443:9,045,312...9,270,617
Ensembl chrNW_004955443:9,046,946...9,258,989
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Tbx18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:26235987 PMID:30143558
NCBI chrNW_004955411:12,194,560...12,232,374
Ensembl chrNW_004955411:12,194,550...12,232,374
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Tbx6
T-box transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30578417
NCBI chrNW_004955493:6,888,832...6,894,840
Ensembl chrNW_004955493:6,888,832...6,894,831
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Tmem231
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:30143558
NCBI chrNW_004955484:2,011,000...2,027,763
Ensembl chrNW_004955484:2,011,000...2,027,763
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Trap1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161
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Trps1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:11112658 PMID:11950061 PMID:18946009 PMID:24502542 PMID:25792522 PMID:28492532 PMID:30143558 PMID:30541476 More...
NCBI chrNW_004955417:21,674,545...21,913,137
Ensembl chrNW_004955417:21,680,116...21,913,173
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Zmym2
zinc finger MYM-type containing 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:32891193
NCBI chrNW_004955497:778,641...895,376
Ensembl chrNW_004955497:778,154...897,680
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
MouseDO
NCBI chrNW_004955434:4,732,584...4,780,990
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Dnase1
deoxyribonuclease 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:24152966 PMID:28710113 PMID:35765067
NCBI chrNW_004955442:13,733,107...13,736,527
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Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
OMIM ClinVar
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 More...
NCBI chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
ClinVar
PMID:25741868 PMID:26026792 PMID:30143558
NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500
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Trap1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:24152966 PMID:28710113 PMID:35765067
NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161
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Upk3a
uroplakin 3A
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:15888565 PMID:16731295
NCBI chrNW_004955413:29,673,160...29,679,604
Ensembl chrNW_004955413:29,672,970...29,682,245
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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 chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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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 chrNW_004955411:12,194,560...12,232,374
Ensembl chrNW_004955411:12,194,550...12,232,374
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3
OMIM ClinVar
PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558
NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
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Cenpf
centromere protein F
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:25741868
NCBI chrNW_004955406:3,225,788...3,273,037
Ensembl chrNW_004955406:3,223,993...3,273,714
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Cep89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:21681106
NCBI chrNW_004955468:4,980,699...5,047,494
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Prepl
prolyl endopeptidase like
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11524703 PMID:11748844 PMID:12820697 PMID:14531788 PMID:15635077 PMID:16374432 PMID:18234729 PMID:19782624 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25109415 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 PMID:30773290 PMID:32133030 PMID:33349102 PMID:37716586 More...
NCBI chrNW_004955441:11,418,299...11,453,889
Ensembl chrNW_004955441:11,418,299...11,453,218
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Slc3a1
solute carrier family 3 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria DNA:missense mutations
OMIM ClinVar RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9536098 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10464673 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11524703 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14561219 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:17010017 PMID:17576681 PMID:17880288 PMID:18234729 PMID:18332091 PMID:18414213 PMID:18704508 PMID:18947684 PMID:19782624 PMID:20517292 PMID:21255007 PMID:21488254 PMID:21677404 PMID:22480232 PMID:22493502 PMID:22796000 PMID:23007880 PMID:23532419 PMID:24033266 PMID:24215330 PMID:24610330 PMID:25109415 PMID:25296721 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26123750 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843 PMID:30773290 PMID:32133030 PMID:33349102 PMID:33532864 PMID:37716586 More...
RGD:1600015
NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
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Slc7a9
solute carrier family 7 member 9
ISO
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria
OMIM ClinVar
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12234930 PMID:12239244 PMID:12371955 PMID:12820697 PMID:15635077 PMID:15670723 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:16609684 PMID:16834950 PMID:16838140 PMID:17539912 PMID:17576681 PMID:18414213 PMID:18947684 PMID:19782624 PMID:21255007 PMID:21677404 PMID:21681106 PMID:22480232 PMID:23532419 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25599739 PMID:25741868 PMID:25964309 PMID:26123750 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28812535 PMID:32133030 PMID:33262960 PMID:33349102 PMID:33377691 PMID:33532864 More...
NCBI chrNW_004955468:5,112,057...5,201,272
Ensembl chrNW_004955468:5,112,161...5,200,266
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Camkmt
calmodulin-lysine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism OMIM:606407
CTD MouseDO
PMID:26247364
NCBI chrNW_004955441:11,453,939...11,830,893
Ensembl chrNW_004955441:11,454,345...11,825,211
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Ppm1b
protein phosphatase, Mg2+/Mn2+ dependent 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chrNW_004955441:11,276,525...11,338,586
Ensembl chrNW_004955441:11,276,525...11,352,095
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Prepl
prolyl endopeptidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chrNW_004955441:11,418,299...11,453,889
Ensembl chrNW_004955441:11,418,299...11,453,218
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Slc3a1
solute carrier family 3 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
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Hif1an
hypoxia inducible factor 1 subunit alpha inhibitor
ISO
ClinVar Annotator: match by term: Renal coloboma syndrome
ClinVar
PMID:11461952 PMID:24676634 PMID:28492532
NCBI chrNW_004955485:9,592,106...9,602,019
Ensembl chrNW_004955485:9,592,106...9,602,019
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Ndufb8
NADH:ubiquinone oxidoreductase subunit B8
ISO
ClinVar Annotator: match by term: Renal coloboma syndrome
ClinVar
PMID:11461952 PMID:24676634 PMID:28492532
NCBI chrNW_004955485:9,607,781...9,613,123
Ensembl chrNW_004955485:9,607,781...9,613,151
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome
OMIM ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9536098 PMID:9760197 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:16199547 PMID:17576681 PMID:20221250 PMID:20358591 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24033266 PMID:24429398 PMID:24676634 PMID:25640679 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29054766 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30773290 PMID:31001663 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:34031707 PMID:34059960 PMID:34696790 More...
NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Gsr
glutathione-disulfide reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19755661
NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747
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Adam10
ADAM metallopeptidase domain 10
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200
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Adam12
ADAM metallopeptidase domain 12
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chrNW_004955477:3,917,637...4,263,529
Ensembl chrNW_004955477:3,922,644...4,263,296
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Adam17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216
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Adam19
ADAM metallopeptidase domain 19
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chrNW_004955408:11,651,298...11,746,391
Ensembl chrNW_004955408:11,654,630...11,745,262
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
RGD
PMID:17583485
RGD:9681748
NCBI chrNW_004955407:26,524,487...26,533,038
Ensembl chrNW_004955407:26,524,130...26,533,038
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Adcy6
adenylate cyclase 6
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chrNW_004955500:7,635,946...7,655,579
Ensembl chrNW_004955500:7,637,089...7,651,162
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Adm
adrenomedullin
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
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Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:23677242
RGD:7243949
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Arg1
arginase 1
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
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Arg2
arginase 2
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chrNW_004955466:2,549,557...2,577,060
Ensembl chrNW_004955466:2,549,557...2,577,060
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Avpr2
arginine vasopressin receptor 2
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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B2m
beta-2-microglobulin
ISO
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
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Becn1
beclin 1
ISO
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chrNW_004955403:24,315,712...24,326,271
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Casp7
caspase 7
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524
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Casp9
caspase 9
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
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Cat
catalase
ISO
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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Cd14
CD14 molecule
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
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Cfl1
cofilin 1
ISO
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571
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Cltrn
collectrin, amino acid transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Col1a2
collagen type I alpha 2 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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Csf1
colony stimulating factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:16951369 PMID:23628901
RGD:7257564 RGD:7257574
NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
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Ddit3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513
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Drd1
dopamine receptor D1
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:14612384
RGD:7248457
NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
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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 chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Fbn1
fibrillin 1
treatment
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:17200203
RGD:7365047
NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12218318 PMID:28318631
RGD:7205473
NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
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Gfer
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:24844766
RGD:13506791
NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
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Gja4
gap junction protein alpha 4
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337
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Gja5
gap junction protein alpha 5
ISO
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349
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Gjb6
gap junction protein beta 6
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chrNW_004955497:1,018,610...1,027,593
Ensembl chrNW_004955497:1,018,610...1,027,360
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Havcr1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chrNW_004955408:11,047,679...11,070,492
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447
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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 chrNW_004955444:1,498,444...1,502,099
Ensembl chrNW_004955444:1,498,675...1,500,945
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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 chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030
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Hipk2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955494:3,365,826...3,554,735
Ensembl chrNW_004955494:3,393,049...3,554,844
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
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Hspa5
heat shock protein family A (Hsp70) member 5
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ifng
interferon gamma
ISO
RGD
PMID:21216449
RGD:6893456
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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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 chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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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 chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Irf1
interferon regulatory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973
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Keap1
kelch like ECH associated protein 1
ISO
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
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Lum
lumican
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chrNW_004955405:28,299,966...28,307,982
Ensembl chrNW_004955405:28,298,988...28,308,054
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Mapk1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
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Muc20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chrNW_004955420:12,212,666...12,234,213
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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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 chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chrNW_004955486:2,054,775...2,056,130
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850
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Npr1
natriuretic peptide receptor 1
ISO
RGD
PMID:19223006
RGD:7247722
NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
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Pak2
p21 (RAC1) activated kinase 2
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chrNW_004955420:12,893,760...12,930,955
Ensembl chrNW_004955420:12,892,845...12,930,955
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Parp1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Postn
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Relb
RELB proto-oncogene, NF-kB subunit
ISO
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chrNW_004955555:2,060,533...2,086,229
Ensembl chrNW_004955555:2,060,533...2,086,229
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Romo1
reactive oxygen species modulator 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chrNW_004955422:25,757,558...25,760,054
Ensembl chrNW_004955422:25,757,558...25,759,769
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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 chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Shh
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chrNW_004955491:8,647,133...8,657,381
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Skil
SKI like proto-oncogene
ISO
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chrNW_004955420:530,531...554,308
Ensembl chrNW_004955420:530,528...554,551
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136
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Snai1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chrNW_004955445:8,232,084...8,237,893
Ensembl chrNW_004955445:8,231,924...8,237,996
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Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tgfb2
transforming growth factor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248
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Tlr9
toll like receptor 9
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf11b
TNF receptor superfamily member 11b
ISO
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:10564241 PMID:19541932
RGD:7245519 RGD:7245536
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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Afap1l2
actin filament associated protein 1 like 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chrNW_004955431:19,275,257...19,378,507
Ensembl chrNW_004955431:19,276,412...19,315,446
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Agtr1
angiotensin II receptor type 1
ISO
RGD
PMID:11819209
RGD:6903866
NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
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Agtr2
angiotensin II receptor type 2
no_association
ISO
DNA:transition:intron:-1332A>G (human)
RGD
PMID:11819209 PMID:12187255 PMID:15470205
RGD:6903853 RGD:6903860 RGD:6903866
NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
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Csf1
colony stimulating factor 1
ISO
RGD
PMID:12110011
RGD:7257580
NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23200959
RGD:7245478
NCBI chrNW_004955408:11,047,679...11,070,492
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Ifng
interferon gamma
ISO
DNA:polymorphism: : 874T>A (human)
RGD
PMID:22906585
RGD:6893460
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Igf1r
insulin like growth factor 1 receptor
ISO
RGD
PMID:14760498
RGD:7242902
NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chrNW_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:28492532
NCBI chrNW_004955407:14,301,689...15,549,561
Ensembl chrNW_004955407:14,305,498...14,842,790
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Sox17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:25741868
NCBI chrNW_004955454:13,689,403...13,690,019
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856
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Upk3a
uroplakin 3A
ISO
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
MouseDO
NCBI chrNW_004955413:29,673,160...29,679,604
Ensembl chrNW_004955413:29,672,970...29,682,245
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Vwa2
von Willebrand factor A domain containing 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chrNW_004955431:19,224,373...19,274,475
Ensembl chrNW_004955431:19,232,562...19,272,205
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 2
OMIM ClinVar
PMID:16199547 PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 PMID:23536131 PMID:25741868 PMID:26489027 PMID:27657687 PMID:28492532 More...
NCBI chrNW_004955407:14,301,689...15,549,561
Ensembl chrNW_004955407:14,305,498...14,842,790
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Sox17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 3
OMIM ClinVar
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479
NCBI chrNW_004955454:13,689,403...13,690,019
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Retreg1
reticulophagy regulator 1
ISO
Neuropathy, sensory, RETREG1-related
OMIA
PMID:6295050 PMID:15971901 PMID:16266014 PMID:23123885 PMID:27527794 PMID:30307654 PMID:30955094 PMID:34387380 More...
NCBI chrNW_004955426:5,574,207...5,688,236
Ensembl chrNW_004955426:5,574,216...5,688,236
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 8
OMIM ClinVar
PMID:23555315 PMID:23620400 PMID:24088041 PMID:25741868 PMID:26257771 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27582382 PMID:27657687 PMID:30115950 PMID:31141158 PMID:31702543 PMID:32164334 PMID:32214361 More...
NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all