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
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 chr 8:64,297,755...64,311,251
Ensembl chr 8:55,401,702...55,415,165
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Ace
angiotensin I converting enzyme
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:34906502
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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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 chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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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 chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNPs: :rs2071047,rs17563(human)
RGD
PMID:24131739
RGD:13442498
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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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 PMID:28492532
NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788
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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 chr 9:23,062,397...23,100,901
Ensembl chr 9:15,564,767...15,603,450
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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 chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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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:31069529 PMID:31230195
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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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 PMID:33057194 PMID:35982159
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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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 chr10:87,167,861...87,204,426
Ensembl chr10:86,667,834...86,705,137
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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 chr10:12,005,305...12,030,615
Ensembl chr10:11,498,931...11,501,869
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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 chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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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 chr10:87,206,977...87,222,202
Ensembl chr10:86,706,749...86,721,974
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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 chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707
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Foxc1
forkhead box C1
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:30143558 PMID:32475988
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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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:16199547 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 PMID:30143558 PMID:34246755 More...
NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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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 chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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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 chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Gata3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391
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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:23620759 PMID:24033266 PMID:25457163 PMID:25741868 PMID:28492532 PMID:30755392 PMID:32483926 PMID:32737436 PMID:38025229 More...
NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:22,996,246...23,012,567
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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 chr18:1,665,468...1,902,291
Ensembl chr18:1,392,725...1,628,067
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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:31365591 PMID:31595705 PMID:31825128 PMID:32708349 PMID:33324081 PMID:33532864 PMID:33663443 More...
NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888
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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:25741868 PMID:27151922 PMID:28492532 PMID:30143558 More...
NCBI chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
DNA: SNP: :g.1267A>G
RGD
PMID:20692469
RGD:7242732
NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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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 chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Lifr
LIF receptor subunit alpha
ISS ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
MouseDO ClinVar
PMID:25741868 PMID:26627873 PMID:28334964 PMID:28492532 PMID:34063511 PMID:34426522 More...
NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234
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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 chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706
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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 chr11:28,382,835...28,466,483
Ensembl chr11:14,895,553...14,981,761
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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 chr X:31,647,000...31,687,768
Ensembl chr X:28,015,347...28,056,110
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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:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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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 chr 9:22,233,318...22,237,430
Ensembl chr 9:14,735,714...14,739,852
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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:26467025 PMID:27657687 PMID:28492532 PMID:29641532
NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176
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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 chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203
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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 chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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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 chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705
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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 chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193
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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 chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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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 chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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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 chr14:44,289,241...44,489,246
Ensembl chr14:43,935,636...44,136,499
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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 chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058
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Tbx6
T-box transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30578417
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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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 chr19:56,792,329...56,813,515
Ensembl chr19:39,883,077...39,904,269
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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 chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981
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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 chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905
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Tshz3
teashirt zinc finger homeobox 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract
ClinVar
PMID:25741868 PMID:39420202
NCBI chr 1:89,386,732...89,460,719
Ensembl chr 1:89,381,858...89,460,874
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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 chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISS
MouseDO
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Celsr3
cadherin, EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
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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 chr10:12,005,305...12,030,615
Ensembl chr10:11,498,931...11,501,869
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Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
OMIM CTD ClinVar
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 More...
NCBI chr13:46,409,412...46,457,426
Ensembl chr13:43,857,266...43,905,269
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:22213154 PMID:25741868 PMID:32203253 PMID:34217267
NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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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 chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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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 chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981
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Upk3a
uroplakin 3A
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
ClinVar
PMID:15888565 PMID:16731295 PMID:25741868
NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948
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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 chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Tbx18
T-box transcription factor 18
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition
OMIM CTD ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition
OMIM ClinVar
PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558
NCBI chr11:28,382,835...28,466,483
Ensembl chr11:14,895,553...14,981,761
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Cenpf
centromere protein F
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:25741868
NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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Cep89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:21681106
NCBI chr 1:97,195,116...97,237,015
Ensembl chr 1:88,058,227...88,100,112
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Prepl
prolyl endopeptidase-like
ISO
ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition
ClinVar
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 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:22480232 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:30586318 PMID:30773290 PMID:32133030 PMID:33349102 PMID:36938085 PMID:37716586 More...
NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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Slc3a1
solute carrier family 3 member 1
susceptibility
ISO ISS
DNA:missense mutations ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition OMIM:220100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM 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:10562926 PMID:10620184 PMID:10737983 PMID:10805464 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:21228398 PMID:21255007 PMID:21488235 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:26540609 PMID:26990548 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28689648 PMID:28717662 PMID:28812535 PMID:28893421 PMID:30069816 PMID:30146843 PMID:30476936 PMID:30586318 PMID:30609409 PMID:30773290 PMID:31589614 PMID:32133030 PMID:33226606 PMID:33262960 PMID:33349102 PMID:33532864 PMID:34805638 PMID:35149915 PMID:35325889 PMID:35753512 PMID:36571637 PMID:36938085 PMID:37107695 PMID:37716586 PMID:116225397 PMID:8054986 More...
RGD:1600015
NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:9,608,178...9,641,907
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Slc7a9
solute carrier family 7 member 9
ISO ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition OMIM:220100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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:12379955 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:25777271 PMID:25964309 PMID:26123750 PMID:26929440 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28812535 PMID:32133030 PMID:33262960 PMID:33349102 PMID:33377691 PMID:33532864 PMID:33964006 PMID:34805638 PMID:10471498 More...
RGD:737767
NCBI chr 1:97,246,253...97,269,546
Ensembl chr 1:88,110,644...88,132,641
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Camkmt
calmodulin-lysine N-methyltransferase
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:606407
CTD MouseDO
PMID:26247364
NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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Ppm1b
protein phosphatase, Mg2+/Mn2+ dependent, 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:15,399,559...15,460,301
Ensembl chr 6:9,655,765...9,707,974
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Prepl
prolyl endopeptidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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Slc3a1
solute carrier family 3 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:9,608,178...9,641,907
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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 chr 1:253,368,400...253,385,495
Ensembl chr 1:243,419,194...243,434,327
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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 chr 1:253,357,878...253,362,936
Ensembl chr 1:243,408,619...243,413,817
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Pax2
paired box 2
ISO ISS
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome OMIM:120330 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2644560 PMID:3077329 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:21108633 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:30348286 PMID:30586318 PMID:30773290 PMID:30937553 PMID:31001663 PMID:31060108 PMID:31328266 PMID:31576025 PMID:31692565 PMID:32164334 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33226606 PMID:33532864 PMID:33712733 PMID:34031707 PMID:34059960 PMID:34696790 PMID:34979951 PMID:35444690 PMID:35574290 PMID:36549658 PMID:36938085 More...
NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Gsr
glutathione-disulfide reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19755661
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
IEP
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:21667191
RGD:12880020
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554
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Adam10
ADAM metallopeptidase domain 10
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889
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Adam12
ADAM metallopeptidase domain 12
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 1:198,116,968...198,443,680
Ensembl chr 1:188,686,989...189,020,667
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Adam17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639
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Adam19
ADAM metallopeptidase domain 19
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr10:30,992,713...31,084,455
Ensembl chr10:30,491,405...30,583,105
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
IEP
RGD
PMID:17583485
RGD:9681748
NCBI chr11:38,418,565...38,427,384
Ensembl chr11:24,931,761...24,941,103
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Adcy6
adenylate cyclase 6
IEP
RGD
PMID:18971210
RGD:2312654
NCBI chr 7:131,621,860...131,642,923
Ensembl chr 7:129,742,838...129,763,754
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Adm
adrenomedullin
IEP
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:23677242
RGD:7243949
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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Akt1
AKT serine/threonine kinase 1
IEP
RGD
PMID:22085202
RGD:10041001
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Arg1
arginase 1
IEP
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:20,475,968...20,488,422
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Arg2
arginase 2
IEP
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 6:103,669,001...103,694,375
Ensembl chr 6:97,936,002...97,961,378
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Avpr2
arginine vasopressin receptor 2
IEP
RGD
PMID:18971210
RGD:2312654
NCBI chr X:156,785,009...156,787,477
Ensembl chr X:151,633,522...151,635,989
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B2m
beta-2 microglobulin
IEP
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Becn1
beclin 1
IEP
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
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Casp12
caspase 12
treatment
IEP
RGD
PMID:25707520
RGD:13782175
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
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Casp3
caspase 3
treatment
IEP
RGD
PMID:29781318
RGD:13782341
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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Casp7
caspase 7
treatment
IEP
RGD
PMID:29781318
RGD:13782341
NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729
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Casp9
caspase 9
treatment
IEP
RGD
PMID:29781318
RGD:13782341
Ensembl chr 5:154,109,046...154,126,626
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Cat
catalase
IEP
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:15673311
RGD:7248411
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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Cd14
CD14 molecule
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cfl1
cofilin 1
IEP
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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Cltrn
collectrin, amino acid transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chr X:33,993,825...34,027,124
Ensembl chr X:30,361,967...30,395,349
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Col1a1
collagen type I alpha 1 chain
IEP
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
IEP
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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Csf1
colony stimulating factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:23628901 PMID:16951369
RGD:7257564 , RGD:7257574
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IMP
RGD
PMID:25840911
RGD:12904676
NCBI chr 5:116,295,691...116,323,219
Ensembl chr 5:111,178,703...111,244,794
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Cyp2j4em1Sage
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage
IMP
RGD
PMID:25840911
RGD:12904676
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Ddit3
DNA-damage inducible transcript 3
treatment
IEP
RGD
PMID:25707520
RGD:13782175
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
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Drd1
dopamine receptor D1
IEP ISO
protein:decreased expression:kidney (rat)
RGD
PMID:14612384 PMID:14612384
RGD:7248457 , RGD:7248457
NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002
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Edn1
endothelin 1
IEP ISO
mRNA, protein:increased expression:renal tubule, renal interstitium (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26207612 PMID:12887768
RGD:8662268
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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Fbn1
fibrillin 1
treatment
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:17200203 PMID:17200203
RGD:7365047 , RGD:7365047
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Fn1
fibronectin 1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28318631 PMID:12218318
RGD:7205473
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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Gfer
growth factor, augmenter of liver regeneration
IEP
RGD
PMID:24844766
RGD:13506791
NCBI chr10:14,223,023...14,225,736
Ensembl chr10:13,718,489...13,720,869
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Gja4
gap junction protein, alpha 4
IEP
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
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Gja5
gap junction protein, alpha 5
IEP
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952
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Gjb6
gap junction protein, beta 6
IEP
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr15:35,400,147...35,410,649
Ensembl chr15:31,284,419...31,294,582
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Havcr1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
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Hey2
hes-related family bHLH transcription factor with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
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Hipk2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 4:68,399,358...68,586,404
Ensembl chr 4:67,440,501...67,619,223
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899
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Hspa5
heat shock protein family A (Hsp70) member 5
treatment
IEP
RGD
PMID:25707520
RGD:13782175
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
IDA
RGD
PMID:21216449
RGD:6893456
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Il1b
interleukin 1 beta
ISO IDA
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22048127 PMID:21370451
RGD:7175301 , RGD:7175323
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
mouse model treated with human protein
RGD
PMID:21975862 PMID:11123344
RGD:6906925 , RGD:6909121
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Irf1
interferon regulatory factor 1
IEP
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:37,916,670...37,924,166
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Irf5
interferon regulatory factor 5
treatment
IEP
RGD
PMID:31177020
RGD:40924651
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267
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Keap1
Kelch-like ECH-associated protein 1
IEP
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862
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Lum
lumican
IEP
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:32,358,614...32,365,793
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Mapk1
mitogen activated protein kinase 1
treatment
IDA
RGD
PMID:28063381
RGD:13800569
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
treatment
IDA
RGD
PMID:28063381
RGD:13800569
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
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Mir494
microRNA 494
ISO
RGD
PMID:25854542
RGD:156420140
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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Mtor
mechanistic target of rapamycin kinase
IEP
RGD
PMID:22085202
RGD:10041001
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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Muc20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Nppa
natriuretic peptide A
IDA ISO
CTD Direct Evidence: marker/mechanism protein, mRNA:increased expression:plasma, kidney:
CTD RGD
PMID:26207612 PMID:19223006 PMID:19223006
RGD:7247722 , RGD:7247722
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251
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Npr1
natriuretic peptide receptor 1
ISO
RGD
PMID:19223006
RGD:7247722
NCBI chr 2:178,231,766...178,247,591
Ensembl chr 2:175,934,181...175,949,505
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Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Pak2
p21 (RAC1) activated kinase 2
IEP
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr11:82,212,896...82,273,803
Ensembl chr11:68,707,969...68,768,816
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Parp1
poly (ADP-ribose) polymerase 1
treatment
IEP
RGD
PMID:29781318
RGD:13782341
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Pdgfb
platelet derived growth factor subunit B
IEP
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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Postn
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:138,527,696...138,559,099
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
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Relb
RELB proto-oncogene, NF-kB subunit
IDA
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:79,257,725...79,285,507
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Romo1
reactive oxygen species modulator 1
IEP
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chr 3:165,119,794...165,121,394
Ensembl chr 3:144,659,826...144,661,310
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Sell
selectin L
ameliorates
IMP
RGD
PMID:10398147
RGD:597015755
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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Serpine1
serpin family E member 1
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (rat)
CTD RGD
PMID:28318631 PMID:12365557 PMID:11832778
RGD:8547941 , RGD:8547912
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Shh
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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Skil
SKI-like proto-oncogene
IEP
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chr 2:114,175,534...114,203,663
Ensembl chr 2:112,247,051...112,275,080
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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Snai1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 3:176,667,476...176,671,965
Ensembl chr 3:156,248,485...156,252,969
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
IEP
RGD
PMID:19541932
RGD:7245519
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1a
TNF receptor superfamily member 1A
IEP
RGD
PMID:19541932
RGD:7245519
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
IEP ISO
RGD
PMID:19541932 PMID:10564241
RGD:7245519 , RGD:7245536
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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Afap1l2
actin filament associated protein 1-like 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr 1:255,964,238...256,060,828
Ensembl chr 1:255,964,238...256,060,820
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:11819209
RGD:6903866
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
no_association
ISO
DNA:transition:intron:-1332A>G (human)
RGD
PMID:12187255 PMID:11819209 PMID:15470205
RGD:6903860 , RGD:6903866 , RGD:6903853
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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Csf1
colony stimulating factor 1
ISO
RGD
PMID:12110011
RGD:7257580
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23200959
RGD:7245478
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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Ifng
interferon gamma
ISO
DNA:polymorphism: : 874T>A (human)
RGD
PMID:22906585
RGD:6893460
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:14760498
RGD:7242902
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr12:43,468,556...43,665,819
Ensembl chr12:37,808,285...38,004,473
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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Sox17
SRY-box transcription factor 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Vesicoureteral reflux
CTD ClinVar
PMID:25741868
NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
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Upk3a
uroplakin 3A
ISS
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
MouseDO
NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948
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Vwa2
von Willebrand factor A domain containing 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr 1:255,922,263...255,963,920
Ensembl chr 1:255,923,541...255,963,934
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: ROBO2-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 PMID:23536131 PMID:25741868 PMID:26489027 PMID:27657687 PMID:28492532 PMID:34059960 PMID:36549658 More...
NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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Sox17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 3
OMIM ClinVar
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479
NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228
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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 PMID:38003185 PMID:39377488 More...
NCBI chr 2:78,045,435...78,205,316
Ensembl chr 2:76,335,609...76,493,898
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: TNXB-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 8
OMIM ClinVar
PMID:9288108 PMID:11642233 PMID:12865992 PMID:15733269 PMID:16199547 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24088041 PMID:25047945 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26193622 PMID:26257771 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27582382 PMID:27657687 PMID:28492532 PMID:29970176 PMID:30115950 PMID:30975432 PMID:31141158 PMID:31229653 PMID:31702543 PMID:31900157 PMID:32164334 PMID:32214361 PMID:32572181 PMID:32988710 PMID:33057194 PMID:33332743 PMID:33482002 PMID:35000503 PMID:35903967 PMID:35918752 PMID:35982159 PMID:36413997 PMID:37895187 More...
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all