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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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
protein:increased expression:cortex of kidney (human)
RGD
PMID:34584221
RGD:155791449
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Agt
angiotensinogen
treatment
IEP
RGD
PMID:22089474
RGD:8548895
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
IMP
RGD
PMID:22089474
RGD:8548895
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Cfl1
cofilin 1
IEP
protein:increased phosphorylation:kidney (rat)
RGD
PMID:26450610
RGD:11520804
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Col1a1
collagen type I alpha 1 chain
IEP
mRNA:increased expression:juxtamedullary cortex (rat)
RGD
PMID:17977875
RGD:2290351
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Hp
haptoglobin
treatment
IEP
RGD
PMID:24029866
RGD:11041817
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Nppb
natriuretic peptide B
IMP
RGD
PMID:26063669
RGD:12910116
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nppbem2Mcwi
natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:26063669
RGD:12910116
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Postn
periostin
disease_progression
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:22403621
RGD:10041032
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppara
peroxisome proliferator activated receptor alpha
IDA
Strain: SHRSP
RGD
PMID:20671072
RGD:5509943
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Rag1
recombination activating 1
ameliorates
IMP
RGD
PMID:23364523 PMID:23364523
RGD:7207429 , RGD:7207429
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:23364523
RGD:7207429
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Shc1
SHC adaptor protein 1
IMP IEP
protein:increased expression:kidney
RGD
PMID:27270176 PMID:27270176
RGD:12792230 , RGD:12792230
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Shc1em5Mcwi
SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin
IMP
RGD
PMID:27270176
RGD:12792230
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Sirt6
sirtuin 6
ISO
protein:decreased expression:kidney
RGD
PMID:30894089
RGD:155260334
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Ace
angiotensin I converting enzyme
treatment severity
IMP ISO
protein:increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:10580398 PMID:21346373
RGD:12879397 , RGD:40818408
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin I converting enzyme 2
severity
ISO
mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:21346373
RGD:40818408
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adrb1
adrenoceptor beta 1
disease_progression
ISO
associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):
RGD
PMID:19745105
RGD:7241815
NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alpk1
alpha-kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542954
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Hipk2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 4:67,439,327...67,619,223
Ensembl chr 4:67,440,501...67,619,223
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Ltb4r
leukotriene B4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr15:29,263,126...29,265,716
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:21613384
RGD:6893469
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ptgds
prostaglandin D2 synthase
ISO
associated with Hypertension;protein:increased expression:serum, urine
RGD
PMID:11882588
RGD:1642584
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Calca
calcitonin-related polypeptide alpha
ISO
RGD
PMID:15928032
RGD:7204486
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8763405
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
mRNA:decreased expression:kidney:
RGD
PMID:7591011
RGD:10047107
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:decreased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Crp
C-reactive protein
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
RGD
PMID:20495177
RGD:7243143
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IEP ISO
protein:increased expression:kidney
RGD
PMID:10779386 PMID:20495177
RGD:1625381 , RGD:7243143
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:16316349
RGD:1582711
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
DNA: snp: 5'utr: -110A>C
RGD
PMID:21475814
RGD:7242785
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Il6
interleukin 6
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:12923405
RGD:1302333
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
IEP
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
IDA
RGD
PMID:12923405
RGD:1302333
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutation
RGD
PMID:18194667
RGD:2300400
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Myh9
myosin, heavy chain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794856
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nos2
nitric oxide synthase 2
IMP
RGD
PMID:20360752
RGD:4891374
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IDA
RGD
PMID:20938214
RGD:4891989
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppa
natriuretic peptide A
IEP ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism associated with Hypertension;protein:increased expression:plasma
CTD RGD
PMID:8763405 PMID:20139323 PMID:12697975 PMID:15241786
RGD:7248593 , RGD:7248660 , RGD:7248617
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
IEP ISO
protein:increased expression:serum associated with Hypertension;protein:increased expression:plasma protein:increased expression:plasma:
RGD
PMID:22188107 PMID:12697975 PMID:20139323
RGD:6907405 , RGD:7248660 , RGD:7248593
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Tnf
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cat
catalase
IMP
RGD
PMID:22733796
RGD:7206853
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ace
angiotensin I converting enzyme
treatment
IEP IDA
RGD
PMID:22342460 PMID:20630208
RGD:6893471 , RGD:8157609
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adm
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adrb1
adrenoceptor beta 1
IMP IDA
RGD
PMID:17278011 PMID:15592645
RGD:7241568 , RGD:7241580
NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
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Agtr1a
angiotensin II receptor, type 1a
IMP IEP
mRNA:decreased expression:kidney:
RGD
PMID:21326341 PMID:9644212 PMID:16796846
RGD:5129177 , RGD:10047119 , RGD:5147455
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr1b
angiotensin II receptor, type 1b
treatment
IEP
mRNA:increased expression:kidney:
RGD
PMID:9644212
RGD:10047119
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Agtr2
angiotensin II receptor, type 2
IDA IMP
RGD
PMID:21189405 PMID:18158356
RGD:6903867 , RGD:6903868
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Avpr1a
arginine vasopressin receptor 1A
IEP
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Ccnd2
cyclin D2
IEP
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cma1
chymase 1
IEP
protein:increased activity:kidney (rat)
RGD
PMID:15869764
RGD:1581745
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Cxcl10
C-X-C motif chemokine ligand 10
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
IEP
mRNA:increased expression:heart left ventricle
RGD
PMID:12708758
RGD:10755511
NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
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Fn1
fibronectin 1
IDA
RGD
PMID:17324142
RGD:7205461
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:22684021
RGD:10449172
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja5
gap junction protein, alpha 5
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hdac8
histone deacetylase 8
treatment
IEP
RGD
PMID:27673327
RGD:13208809
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Lama2
laminin subunit alpha 2
IEP
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Lcn2
lipocalin 2
ISO
protein:increased expression:urine,plasma
RGD
PMID:22923545
RGD:7245500
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mpo
myeloperoxidase
IEP
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:16788145
RGD:1642130
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pdgfa
platelet derived growth factor subunit A
IEP
mRNA:increased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Prl
prolactin
IEP
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgs1
prostaglandin-endoperoxide synthase 1
IMP
RGD
PMID:17766473
RGD:2300258
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ren
renin
ISO
mRNA:increased expression:renal cortex (mouse) protein:increased activity:blood plasma (human)
RGD
PMID:22378822 PMID:2240003
RGD:6892688 , RGD:125097504
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Slc9a1
solute carrier family 9 member A1
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Slc9a3
solute carrier family 9 member A3
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:12620700
RGD:1581326
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Trip11
thyroid hormone receptor interactor 11
ISO
ClinVar Annotator: match by term: Goldblatt syndrome
ClinVar
PMID:20089971 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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