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 polypeptide 3
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 chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846
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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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Actg1
actin, gamma, cytoplasmic 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 chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368
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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 chr10:70,758,660...70,995,581
Ensembl chr10:70,758,662...70,995,530
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNPs: :rs2071047,rs17563(human)
RGD
PMID:24131739
RGD:13442498
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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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 chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114
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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 chr17:45,702,809...45,744,633
Ensembl chr17:45,702,810...45,744,663
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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 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519
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Col4a1
collagen, type IV, alpha 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:31230195
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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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 chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
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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 chr11:101,623,782...101,658,184
Ensembl chr11:101,623,745...101,658,184
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Dnase1
deoxyribonuclease I
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888
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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 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041
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Etv4
ets variant 4
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr11:101,660,573...101,677,963
Ensembl chr11:101,660,568...101,676,197
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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 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134
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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 chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
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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 chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587
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Frem1
Fras1 related extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576
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Frem2
Fras1 related extracellular matrix protein 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 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776
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Gata3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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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 chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
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Greb1l
growth regulation by estrogen in breast cancer-like
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:29100090 PMID:30143558
NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
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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 chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645
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Hpse2
heparanase 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:19669792 PMID:20560210 PMID:25510506 PMID:27151922 PMID:28492532 PMID:30143558 More...
NCBI chr19:42,774,980...43,376,913
Ensembl chr19:42,774,978...43,376,794
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Hspa1b
heat shock protein 1B
ISO
DNA: SNP: :g.1267A>G
RGD
PMID:20692469
RGD:7242732
NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
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Jag1
jagged 1
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Lifr
LIF receptor alpha
IAGP 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 chr15:7,120,091...7,226,970
Ensembl chr15:7,120,095...7,226,970
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Notch2
notch 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:25741868
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Nphp1
nephronophthisis 1 (juvenile) homolog (human)
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:30143558
NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817
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Nphp4
nephronophthisis 4 (juvenile) homolog (human)
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:28492532 PMID:30143558
NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640
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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 chr16:76,084,291...76,170,930
Ensembl chr16:76,084,288...76,170,715
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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:165,171,503...165,223,700
Ensembl chr X:165,173,029...165,223,700
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310
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Polr1c
polymerase (RNA) I polypeptide C
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687
NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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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 chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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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 chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983
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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 chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,208,713
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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 chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790
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Six2
sine oculis-related homeobox 2
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:27657687 PMID:28492532 PMID:32164334
NCBI chr17:85,970,276...85,995,682
Ensembl chr17:85,991,705...85,995,702
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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 chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
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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 chr10:121,616,896...121,883,740
Ensembl chr10:121,616,896...121,883,220
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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 chr 5:64,313,648...64,508,829
Ensembl chr 5:64,313,648...64,508,829
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Tbx18
T-box18
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract
ClinVar
PMID:26235987 PMID:30143558
NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313
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Tbx6
T-box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30578417
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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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 chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513
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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 chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691
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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 chr15:50,518,149...50,754,027
Ensembl chr15:50,518,148...50,753,859
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Zmym2
zinc finger, MYM-type 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 chr14:57,123,986...57,199,815
Ensembl chr14:57,124,110...57,200,158
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Zng1
Zn regulated GTPase metalloprotein activator 1
IAGP
MouseDO
NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974
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Dnase1
deoxyribonuclease I
ISO
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1
ClinVar
PMID:24152966 PMID:28710113 PMID:35765067
NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888
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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
OMIM CTD ClinVar
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 More...
NCBI chr 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696
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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 chr10:121,616,896...121,883,740
Ensembl chr10:121,616,896...121,883,220
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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 chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691
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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 chr15:84,901,342...84,906,761
Ensembl chr15:84,901,342...84,906,748
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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 chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Tbx18
T-box18
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction
OMIM CTD ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313
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Timp1
tissue inhibitor of metalloproteinase 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:20,736,405...20,740,976
Ensembl chr X:20,736,405...20,740,974
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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 chr16:76,084,291...76,170,930
Ensembl chr16:76,084,288...76,170,715
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Cenpf
centromere protein F
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:25741868
NCBI chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283
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Cep89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Cystinuria
ClinVar
PMID:21681106
NCBI chr 7:35,096,425...35,139,255
Ensembl chr 7:35,096,460...35,138,114
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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 chr17:85,370,122...85,397,702
Ensembl chr17:85,370,898...85,397,669
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Slc3a1
solute carrier family 3, member 1
susceptibility
ISO IAGP
DNA:missense mutations ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria CTD Direct Evidence: marker/mechanism OMIM:220100
ClinVar CTD MouseDO 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: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 PMID:8054986 More...
RGD:1600015
NCBI chr17:85,335,775...85,371,669
Ensembl chr17:85,335,804...85,371,664
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Slc7a9
solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria OMIM:220100 DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM CTD ClinVar MouseDO 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: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 PMID:10471498 More...
RGD:737767
NCBI chr 7:35,148,152...35,165,459
Ensembl chr 7:35,148,221...35,165,461
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Camkmt
calmodulin-lysine N-methyltransferase
ISO IAGP
CTD Direct Evidence: marker/mechanism OMIM:606407
CTD MouseDO
PMID:26247364
NCBI chr17:85,397,989...85,766,017
Ensembl chr17:85,397,980...85,766,016
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Ppm1b
protein phosphatase 1B, magnesium dependent, beta isoform
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr17:85,264,169...85,331,420
Ensembl chr17:85,264,169...85,331,419
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Prepl
prolyl endopeptidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr17:85,370,122...85,397,702
Ensembl chr17:85,370,898...85,397,669
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Slc3a1
solute carrier family 3, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr17:85,335,775...85,371,669
Ensembl chr17:85,335,804...85,371,664
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Hif1an
hypoxia-inducible factor 1, alpha subunit inhibitor
ISO
ClinVar Annotator: match by term: Renal coloboma syndrome
ClinVar
PMID:11461952 PMID:24676634 PMID:28492532
NCBI chr19:44,551,293...44,564,713
Ensembl chr19:44,551,289...44,564,713
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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 chr19:44,537,010...44,543,881
Ensembl chr19:44,537,011...44,543,879
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Pax2
paired box 2
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome OMIM:120330
OMIM CTD ClinVar MouseDO
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 chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Gsr
glutathione reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Gstp1
glutathione S-transferase, pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Sod1
superoxide dismutase 1, soluble
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19755661
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Abl1
c-abl oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21667191
RGD:12880020
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Acta2
actin alpha 2, smooth muscle, aorta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
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Adam10
a disintegrin and metallopeptidase domain 10
IEP
RGD
PMID:24103556
RGD:13703030
NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511
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Adam12
ADAM metallopeptidase domain 12
IEP
RGD
PMID:24103556
RGD:13703030
NCBI chr 7:133,484,928...133,826,826
Ensembl chr 7:133,484,928...133,833,875
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Adam17
a disintegrin and metallopeptidase domain 17
IEP
RGD
PMID:24103556
RGD:13703030
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Adam19
ADAM metallopeptidase domain 19
IEP
RGD
PMID:24103556
RGD:13703030
NCBI chr11:45,945,329...46,038,174
Ensembl chr11:45,946,819...46,038,170
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
RGD
PMID:17583485
RGD:9681748
NCBI chr16:85,590,715...85,600,001
Ensembl chr16:85,590,715...85,600,001
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Adcy6
adenylate cyclase 6
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr15:98,484,982...98,508,119
Ensembl chr15:98,487,854...98,507,957
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Adm
adrenomedullin
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Ager
advanced glycosylation end product-specific receptor
IMP
RGD
PMID:23677242
RGD:7243949
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Akt1
thymoma viral proto-oncogene 1
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Arg1
arginase, liver
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
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Arg2
arginase type II
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Avpr2
arginine vasopressin receptor 2
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr X:72,935,371...72,938,034
Ensembl chr X:72,935,708...72,939,108
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B2m
beta-2 microglobulin
ISO
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Casp12
caspase 12
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp7
caspase 7
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr19:56,382,640...56,430,780
Ensembl chr19:56,385,561...56,430,776
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Casp9
caspase 9
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cat
catalase
ISO
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:15673311
RGD:7248411
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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Cd14
CD14 antigen
IEP
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Cfl1
cofilin 1, non-muscle
ISO
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
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Cltrn
collectrin, amino acid transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chr X:162,873,183...162,901,855
Ensembl chr X:162,871,826...162,901,856
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Col1a1
collagen, type I, alpha 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Col1a2
collagen, type I, alpha 2
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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Col3a1
collagen, type III, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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Csf1
colony stimulating factor 1 (macrophage)
IEP IMP
mRNA:increased expression:kidney
RGD
PMID:23628901 PMID:16951369
RGD:7257564 , RGD:7257574
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Csf1r
colony stimulating factor 1 receptor
IEP
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Cyp2j9
cytochrome P450, family 2, subfamily j, polypeptide 9
ISO
RGD
PMID:25840911
RGD:12904676
NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815
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Ddit3
DNA-damage inducible transcript 3
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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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 chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
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Edn1
endothelin 1
ISO
mRNA, protein:increased expression:renal tubule, renal interstitium (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26207612 PMID:12887768
RGD:8662268
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Fbn1
fibrillin 1
treatment
IEP IDA
protein:increased expression:kidney (mouse)
RGD
PMID:17200203 PMID:17200203
RGD:7365047 , RGD:7365047
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28318631 PMID:12218318
RGD:7205473
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Gfer
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:24844766
RGD:13506791
NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130
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Gja4
gap junction protein, alpha 4
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832
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Gja5
gap junction protein, alpha 5
ISO
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732
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Gjb6
gap junction protein, beta 6
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr14:57,360,758...57,371,068
Ensembl chr14:57,360,760...57,371,068
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Havcr1
hepatitis A virus cellular receptor 1
IEP
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
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Hey2
hairy/enhancer-of-split related with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
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Hipk2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 6:38,664,447...38,853,236
Ensembl chr 6:38,671,325...38,853,099
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620
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Hspa5
heat shock protein 5
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
ISO
RGD
PMID:21216449
RGD:6893456
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il1b
interleukin 1 beta
IEP ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22048127 PMID:21370451
RGD:7175301 , RGD:7175323
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO IMP
mouse model treated with human protein
RGD
PMID:21975862 PMID:11123344
RGD:6906925 , RGD:6909121
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Irf1
interferon regulatory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Irf5
interferon regulatory factor 5
treatment
ISO
RGD
PMID:31177020
RGD:40924651
NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
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Keap1
kelch-like ECH-associated protein 1
ISO
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657
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Lum
lumican
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr10:97,401,363...97,408,565
Ensembl chr10:97,400,990...97,408,565
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Mapk1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Mir494
microRNA 494
IEP
RGD
PMID:25854542
RGD:156420140
NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 9:7,692,091...7,699,586
Ensembl chr 9:7,692,091...7,699,586
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Muc20
mucin 20
IEP
RGD
PMID:14565953
RGD:7364790
NCBI chr16:32,597,793...32,617,805
Ensembl chr16:32,597,793...32,617,805
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nppa
natriuretic peptide type A
ISO IEP
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 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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Nppb
natriuretic peptide type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Nppc
natriuretic peptide type C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293
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Npr1
natriuretic peptide receptor 1
IMP
RGD
PMID:19223006
RGD:7247722
NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173
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Nqo1
NAD(P)H dehydrogenase, quinone 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Pak2
p21 (RAC1) activated kinase 2
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160
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Parp1
poly (ADP-ribose) polymerase family, member 1
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pdgfb
platelet derived growth factor, B polypeptide
ISO
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Postn
periostin, osteoblast specific factor
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Relb
avian reticuloendotheliosis viral (v-rel) oncogene related B
ISO
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chr 7:19,340,142...19,363,352
Ensembl chr 7:19,340,142...19,363,363
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Romo1
reactive oxygen species modulator 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chr 2:155,986,073...155,987,714
Ensembl chr 2:155,985,959...155,987,717
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (rat)
CTD RGD
PMID:28318631 PMID:12365557 PMID:11832778
RGD:8547941 , RGD:8547912
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Shh
sonic hedgehog
IEP
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Skil
SKI-like
ISO
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chr 3:31,149,259...31,176,741
Ensembl chr 3:31,149,207...31,176,726
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
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Snai1
snail family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Tlr9
toll-like receptor 9
IEP
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
IEP
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO IMP
RGD
PMID:19541932 PMID:10564241
RGD:7245519 , RGD:7245536
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Afap1l2
actin filament associated protein 1-like 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr19:56,900,786...57,017,021
Ensembl chr19:56,900,793...56,996,660
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:11819209
RGD:6903866
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Agtr2
angiotensin II receptor, type 2
no_association
ISO
DNA:transition:intron:-1332A>G (human)
RGD
PMID:12187255 PMID:15470205 PMID:11819209
RGD:6903860 , RGD:6903853 , RGD:6903866
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Csf1
colony stimulating factor 1 (macrophage)
ISO
RGD
PMID:12110011
RGD:7257580
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23200959
RGD:7245478
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Ifng
interferon gamma
ISO
DNA:polymorphism: : 874T>A (human)
RGD
PMID:22906585
RGD:6893460
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1r
insulin-like growth factor I receptor
ISO
RGD
PMID:14760498
RGD:7242902
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Med13l
mediator complex subunit 13-like
ISO
ClinVar Annotator: match by term: Vesico-Ureteral Reflux
ClinVar
PMID:25741868
NCBI chr 5:118,698,675...118,903,503
Ensembl chr 5:118,698,744...118,903,503
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Robo2
roundabout guidance receptor 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:28492532
NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,208,713
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Sox17
SRY (sex determining region Y)-box 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Vesicoureteral reflux
CTD ClinVar
PMID:25741868
NCBI chr 1:4,561,151...4,567,624
Ensembl chr 1:4,561,154...4,567,577
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789
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Upk3a
uroplakin 3A
IAGP
OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963
MouseDO
NCBI chr15:84,901,342...84,906,761
Ensembl chr15:84,901,342...84,906,748
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Vwa2
von Willebrand factor A domain containing 2
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux
ClinVar
PMID:29351342
NCBI chr19:56,862,848...56,900,510
Ensembl chr19:56,862,681...56,900,510
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Robo2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Vesicoureteral reflux 2
OMIM CTD ClinVar
PMID:16199547 PMID:17357069 PMID:18235093 PMID:22558067 PMID:22995991 PMID:23536131 PMID:25741868 PMID:26489027 PMID:27657687 PMID:28492532 More...
NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,208,713
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Sox17
SRY (sex determining region Y)-box 17
ISO
ClinVar Annotator: match by term: Vesicoureteral reflux 3
OMIM ClinVar
PMID:20960469 PMID:25741868 PMID:28492532 PMID:28566479
NCBI chr 1:4,561,151...4,567,624
Ensembl chr 1:4,561,154...4,567,577
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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 chr15:25,840,795...25,973,782
Ensembl chr15:25,843,266...25,973,773
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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 chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789
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